Thursday, December 24, 2009

Development of a Disease-Specific Quality of Life Questionnaire in Addison's Disease

Kristian Løvås*, Suzanne Curran, Marianne Øksnes, Eystein S. Husebye, Felicia A. Huppert,  and V. Krishna K. Chatterjee


Department of Medicine (K.L., S.C., V.K.K.C.), University of Cambridge, Cambridge CB2 0QQ, United Kingdom; Institute of Medicine (K.L., M.Ø., E.S.H.), University of Bergen, 5020 Bergen, Norway; Department of Medicine (K.L., E.S.H.), Haukeland University Hospital, 5021 Bergen, Norway; and Department of Psychiatry (F.A.H.), University of Cambridge, Cambridge CB2 2QQ, United Kingdom


* To whom correspondence should be addressed. E-mail:


Context: Patients with Addison's disease reproducibly self-report impairment in specific dimensions of general well-being questionnaires, suggesting particular deficiencies in health-related quality-of-life (HRQoL).


Objective: We sought to develop an Addison's disease-specific questionnaire (AddiQoL) that could better quantify altered well-being and treatment effects.


Design, Setting, Patients, Intervention, and Outcomes: We reviewed the literature to identify HRQoL issues in Addison's disease and interviewed patients and their partners in-depth to explore various symptom domains. A list of items was generated, and nine expert clinicians and five expert patients assessed the list for impact and clarity. A preliminary questionnaire was presented to 100 Addison's outpatients; the number of items was reduced after analysis of the distribution of the responses. The final questionnaire responses were assessed by Cronbach's {alpha} and Rasch analysis.


Results and Interpretation: Published studies of HRQoL in Addison's disease indicated reduced vitality and general health perception and limitations in physical and emotional functioning. In-depth interviews of 14 patients and seven partners emphasized the impact of the disease on the emotional domain. Seventy HRQoL items were generated; after the expert consultation process and pretesting in 100 patients, the number of items was reduced to 36. Eighty-six patients completed the final questionnaire; the responses showed high internal consistency with Cronbach's {alpha} 0.95 and Person Separation Index 0.94 (Rasch analysis).


Conclusions: We envisage AddiQoL having utility in trials of hormone replacement and management of patients with Addison's disease, analogous to similar questionnaires in GH deficiency (AGHDA) and acromegaly (AcroQoL).




Tuesday, December 22, 2009

(Addison’s) A piece of presidential history solved the puzzle

By Sandra G. Boodman
Special to the Washington Post
Tuesday, December 15, 2009


As she lay in a heap, trying to figure out how badly she had hurt herself falling headfirst down a flight of stairs in the middle of the night, Rebecca Woodings grasped just how sick she really was.


For months doctors had been ratcheting up the medicines used to treat her intractable allergies. At one point she was taking 10 drugs a day and getting allergy shots. An economist who works for a large Washington law firm, Woodings, 49, told doctors she was tired; she assumed her fatigue was a consequence of her allergies, which were also causing a persistent cough. She did not tell them she was so exhausted she had to sit on the sidewalk while waiting for a bus and couldn't stand long enough to cook a meal.


Hours before she tumbled down the stairs of her Takoma Park home last June, an astute pulmonologist had figured out what was wrong -- and it had nothing to do with her lungs. That night, as Woodings tried to move the wrist she had broken in the fall, she focused on her 6-year-old son, realizing that if she had smacked her head she could have died. "I kept thinking, what would have happened to my child?"


In the fall of 2008 Woodings began feeling unusually tired. Walking less than a mile to the Metro in the morning made her break into a sweat. "It was very tiring," she said, and she recalled feeling puzzled. "I'm not terribly out of shape and I'm not overweight." Once on the Metro, Woodings made sure to get a seat; standing for 20 minutes was unthinkable.


During her annual checkup in November, her long-time internist at George Washington University discovered a Vitamin D deficiency and prescribed a short course of high-dose supplements.


By December, the fatigue was worse. Woodings had to sit down in the middle of a hymn during a church service. "All these little white-haired people around me are standing, and I couldn't," she recalled. When she mentioned the incident to a friend who works at the National Institutes of Health, she was told the symptoms sounded like a heart attack. Alarmed, Woodings immediately headed to a nearby emergency room, where an EKG and a chest X-ray showed that her heart was fine and her lungs were clear. Her father, a retired physician, suggested that maybe an antihistamine was causing her fatigue. Woodings stopped taking it and felt slightly more energetic.


By February, she was forced to sleep propped up on pillows and was taking a prescription cough syrup, which had little effect. The mother of a typically energetic kindergartner, she had started falling into bed around 8:30, when her son did. One night, she was so tired she told him to put himself to bed and crawled into bed at 8. Her allergist began administering allergy shots, which didn't help. Another doctor -- not her regular internist -- suggested she cut back on her sleep and get more exercise. Woodings replied that she was so tired she worried she might fall off a treadmill.


Routinely she arrived at the office at 9 a.m., already worn out. "It's really difficult to talk about being exhausted at a law firm," she said. "It sounds wimpy," so she didn't mention it.


In March, when she was handed a demanding new assignment with multiple deadlines, two new symptoms surfaced: Woodings began retching unpredictably -- "that damn cough," she remembered thinking -- and developed ferocious leg cramps at night. By then she noticed another peculiarity: Although she literally could not stand long enough to wait for a light to change while crossing the street, she could manage if she kept moving, walking slowly in a circle.


In early April, she went back to the allergist. He diagnosed a bad sinus infection and doubled the medications she was taking to 10 per day, including a short course of prednisone, a corticosteroid sometimes used to treat severe sinus infections.


After the first day, Woodings said, she felt markedly better. A week later the cough had disappeared and her energy slowly returned.


But by Memorial Day the fatigue was back and Woodings realized her problem wasn't allergies. She had stopped taking the allergy drugs, deciding that they might be the cause; her cough was gone. Woodings called her internist, whom she had not seen in six months. The doctor was heading out of town and Woodings decided to wait until her return rather than see a covering physician. In the meantime her physician ordered several tests, including those for Lyme disease and HIV, as well as CT scans of her lungs and sinuses.


On June 5, Woodings was told she had a possible bacterial infection in her lungs -- but not tuberculosis -- and was referred to GWU pulmonologist Susan Hasselquist. When she called to make an appointment, she was told that Hasselquist's first opening was a month away.


Desperate, Woodings decided to lie. "I said, 'I can't wait. The potential diagnosis is active TB.' " She was given an appointment for the next day.


On June 10 Woodings met with Hasselquist, who listened intently as Woodings recounted the events of the previous seven months. Unable to obtain a blood pressure using an automated cuff, Hasselquist measured it manually and found it was an alarmingly low 90/55. The lung specialist recalled being struck by how weak Woodings was: She lay down on the examining table while they talked because sitting up was too tiring. Hasselquist said she kept thinking of, and discarding, possible diagnoses. "I knew if we just kept talking I'd figure it out," she said.


Her eureka moment occurred when she zeroed in on Woodings's deep tan and asked her about it. Woodings, who is normally very fair, said that other people had remarked on it and that she hadn't spent much time in the sun.


Suddenly, Hasselquist said, she was certain what was wrong, a hunch triggered by photographs she'd seen of a ruddy-looking President John F. Kennedy, who had Addison's disease, a rare endocrine disorder that occurs when the adrenal glands become damaged and fail to produce enough cortisol and aldosterone, hormones vital for metabolic function. Most cases are the result of an autoimmune attack in which the immune system slowly destroys the adrenal glands. Woodings's dramatic improvement while taking prednisone, the steroid prescribed to treat her sinus infection, was a vital clue: It is one of the medicines used to treat Addison's.


Kennedy received an Addison's diagnosis at age 30; his sister, the late Eunice Kennedy Shriver, is also believed to have suffered from the disorder, which affects one to four of every 100,000 people, according to the National Institute of Diabetes and Digestive and Kidney Diseases.


Woodings had the classic symptoms of Addison's: progressive fatigue, muscle weakness, low blood pressure that falls further during a change in positions, and hyperpigmentation, which resembles a dark tan. The retching and legs cramps are also symptoms, although her allergies and cough are not.


Hasselquist did not mention her suspicion to Woodings because it would require confirmation from an endocrinologist. She said she suggested hospitalizing Woodings because she was so weak. When Woodings declined, Hasselquist warned her against standing up too quickly, which could cause dizziness.


After the appointment with Hasselquist, Woodings went straight home, ordered a pizza and went to bed. She awoke several hours later and headed for the bathroom to urinate. She remembers feeling dizzy, and then realizing she was at the bottom of the stairs, her wrist shattered. She managed to get up, call 911 and wake her son. Doctors in the ER set her wrist, told her to see an orthopedist because she would need surgery, then sent her home.


A few days later GWU endocrinologist Michael Irwig, to whom Hasselquist referred Woodings, confirmed the Addison's diagnosis. He prescribed prednisone and another drug Woodings will have to take for the rest her life to replace the hormones her body no longer produces.


Within a few weeks, Woodings said, she felt much better. Her energy level returned to normal, as did her blood pressure. Her tan is fading, and surgery on her wrist was successful.


"I can't fault any of the doctors," Woodings said, adding that she believes she should have called her internist early on, instead of consulting other physicians. "I think I could have described my condition a little better. I never said, 'I have to sit on the sidewalk waiting for a bus,' but rather, 'I'm tired all the time.' "


If you have a Medical Mystery that has been solved, e-mail To read previous mysteries, go to







Woman's tale of Addison's disease proves the value of primary-care physicians


Tuesday, December 22, 2009


Of primary importance


"A piece of presidential history solved the puzzle" [Dec. 15], about the lady found to have Addison's disease, points out how crucial it is to have a primary-care focus in evaluating patients. Often patients scramble through a maze of specialists, as she did, without a strong primary-care clinician coordinating care.


My hope is that health reform will recognize the essential perspective that primary-care physicians from family medicine, geriatrics and internal medicine bring to patient care. They can save patients and the health-care system heartache and money. It is the most challenging field in medicine and the most holistic.


Our system should provide incentives for new medical school graduates to join these fields and reward these physicians appropriately. These doctors work very, very hard. Good primary-care clinicians are worth their weight in gold.


Christine Butler

Coordinator, Palliative Care Service

Sibley Memorial Hospital




Thursday, December 17, 2009

Diagnosis and Treatment of Adrenal Tumors: A Single-Center Experience with 238 Cases

Abdul-Monem Gomha, Yasser Osman, Mohsen El-Mekresh, Mohamed Abou El-Ghar, Ibrahim Eraky
Urology Department, Urology and Nephrology Center, Mansoura University, Mansoura, Egypt

Address of Corresponding Author

Urol Int 2009;83:433-437 (DOI: 10.1159/000251184)

 Key Words

  • Adrenal mass
  • Adrenalectomy


Objective: It was the aim of this study to review and analyze clinical data on the diagnosis and management of patients with adrenal masses.


Patients and Methods: Between 1976 and 2005, 238 patients admitted to our institute with adrenal masses were reviewed. Incidence, clinical features, imaging technique findings, surgical approaches, morbidity and mortality, as well as pathological diagnoses were reported.


Results: The series comprised 134 males and 104 females (mean age 33.3 ± 20.3 years). Right-sided masses were more common (63.4%), with a mean size of 7.7 ± 4 cm. Pain was the most frequent presenting symptom (53.4%), while 62 (26%) had a functional tumor. Incidentaloma was diagnosed in 49 patients (20.6%). Both computed tomography and magnetic resonance imaging showed a high diagnostic yield (sensitivities of 98.9 and 100%, respectively). Open adrenalectomy was performed in 153 patients (64.3%), while a laparoscopic approach was employed in 53 patients (22.3%). The intraoperative complication rate was 14.7%, the postoperative complication rate 6.1% and perioperative mortality 1.7%. Most of the excised masses were pheochromocytomas (26.4%). Conclusions: Computed tomography is recommended as the first diagnostic modality to define and characterize adrenal masses. Laparoscopic adrenalectomy is currently replacing open surgery as the standard surgical management of adrenal masses.

Copyright © 2009 S. Karger AG, Basel

 Author Contacts

Yasser Osman, MD
Urology and Nephrology Center
Mansoura University
Mansoura (Egypt)
Tel. +20 50 226 2222, Fax +20 50 226 3717, E-Mail

 Article Information

Received: October 20, 2008
Accepted: December 9, 2008
Published online: December 08, 2009
Number of Print Pages : 5
Number of Figures : 1, Number of Tables : 3, Number of References : 20



Wednesday, December 16, 2009

Epidemiology of adrenal crisis in chronic adrenal insufficiency – the need for new prevention strategies

European Journal of Endocrinology (2009) In press
DOI: 10.1530/EJE-09-0884
Copyright © 2009 by European Society of Endocrinology

Stefanie Hahner, Melanie Loeffler, Benjamin Bleicken, Christiane Drechsler, Danijela Milovanovic, Martin Fassnacht, Manfred Ventz, Marcus Quinkler and Bruno Allolio

S Hahner, Endocrinology and Diabetes Unit, University of Wuerzburg, Wuerzburg, D-97080 , Germany
M Loeffler, University of Wuerzburg, Endocrinology and Diabetes Unit, Würzburg, Germany
B Bleicken, Dept. of Medicine I, University of Wuerzburg, Würzburg, Germany
C Drechsler, Dept. of Nephrology, University of Würzburg, Würzburg, Germany
D Milovanovic, University of Wuerzburg, Endocrinology and Diabetes Unit, Würzburg, Germany
M Fassnacht, Dept. of Medicine I, University of Würzburg, Würzburg, Germany
M Ventz, Dept. of Medicine I, University of Wuerzburg, Würzburg, Germany
M Quinkler, Dept. of Medicine I, University of Wuerzburg, Würzburg, Germany
B Allolio, University of Wuerzburg, Endocrinology and Diabetes Unit, Würzburg, Germany


Correspondence: Stefanie Hahner, Email:


Objective: Adrenal crisis (AC) is a life-threatening complication of adrenal insufficiency (AI). Here we evaluated frequency, causes and risk factors of AC in patients with chronic AI.

Methods: In a cross-sectional study 883 patients with AI were contacted by mail. 526 patients agreed to participate and received a disease specific questionnaire.


Results: 444 data sets were available for analysis (primary adrenal insufficiency, PAI n=254, secondary adrenal insufficiency, SAI n=190). 42% (PAI 47%, SAI 35%) reported at least one crisis. 384 AC in 6092 patient years were documented (frequency of 6.3 crises/100 patient years). Precipitating causes were mainly gastrointestinal infection and fever (45%) but also other stressful events (e.g. major pain, surgery, psychic distress, heat, pregnancy). Sudden onset of apparently unexplained AC was also reported (PAI 6.6%, SAI 12.7%). Patients with PAI reported more frequent emergency glucocorticoid administration (42.5% vs 28.4%, p=0.003)) Crisis incidence was not influenced by educational status, BMI, glucocorticoid dose, DHEA treatment, age at diagnosis, hypogonadism, hypothyroidism or growth hormone deficiency. In PAI, patients with concomitant non-endocrine disease were at higher risk of crisis (OR=2.02, 95% CI 1.05-3.89, p=0.036). In SAI, female sex (OR=2.18, 95%CI 1.06-4.5, p=0.035) and diabetes insipidus (RR=2.71, 95%CI 1.22-5.99, p=0.014) were associated with higher crisis incidence.


Conclusion: AC occurs in a substantial proportion of patients with chronic AI, mainly triggered by infectious disease. Only a limited number of risk factors suitable for targeting prevention of AC were identified. These findings indicate the need for new concepts of crisis prevention in patients with AI.



Tuesday, December 08, 2009

Adrenal Insufficiency: University company wins healthy £300k for new Cardiff-based drug

A UNIVERSITY spin-out venture yesterday won a £300,000 investment to support the commercialisation of its product.


Fusion IP, the university commercialisation company which turns university research into business, is investing the money into Diurnal, an innovative, early stage Fusion portfolio company from the University of Sheffield.


Cardiff-based Diurnal is developing a novel approach to drug delivery which will help patients suffering from reduced cortisol and testosterone levels.


The investment is part of a £600,000 funding round in which Finance Wales has also invested £300,000 under its memorandum of understanding with Fusion. Diurnal will have a post-money valuation of £2m.


Diurnal has developed a delayed and sustained release therapy to deliver hydrocortisone in a manner that mimics the body’s normal circadian rhythm – the body’s natural 24 hour hormone cycle.


This therapeutic approach has the potential to help patients with deficiencies in steroid hormones, testosterone, thyroid hormones and associated conditions by regulating metabolism, growth development and puberty, tissue function and in determining mood.

Each of these deficiencies requires life-long treatment and Diurnal’s approach to drug delivery has the potential to drastically improve patients’ lives, according to the company.


Working closely with Penn Pharma, the Tredegar-based pharmaceutical services company, and Simbec Research in Merthyr Tydfil, Diurnal will use the funding to continue to develop its new formulation approach to endocrine therapy and to complete phase one clinical trials of its lead product Chronocort, for adrenal insufficiency in the first half of next year.


The product has already received two related Orphan Drug designations from the European Medicines Agency, which affords 10 years of market exclusivity after the grant of marketing authorisation in Europe.


Martin Whitaker, general manager at Diurnal, said: “Diurnal’s product pipeline has the potential to help many patients with hormone deficiencies that disrupt the body’s natural clock.


“Our lead compound Chronocort is focused on delivering a delayed and sustained release therapy. Following positive pre-clinical results and today’s fundraising, Chronocort is poised to enter phase one clinical trials next year.


“In addition, it has significant market potential and has already received Orphan Drug Designation potentially giving it market exclusivity in Europe.”


Following the fundraising Fusion will have a 51.6% shareholding in Diurnal.

David Baynes, chief executive officer of Fusion IP, said: “Diurnal’s endocrine therapies have great potential for patients suffering from hormone deficiencies.


“Taking Chronocort into phase I clinical trials next year is a major step forward for Diurnal and we are delighted to see the company making such positive progress.”


Jocelyn Brown, Associate at Finance Wales, said: “This latest funding round accelerates Diurnal’s commitment to creating niche therapeutics targeting areas of greatest unmet patient need.


“The continuing success of Diurnal is underpinned by their strong partners within the Welsh biosciences community, and we’re pleased to be investing in such a dynamic, forward-looking company.”




Thursday, December 03, 2009

Online Survey for Adrenal Insufficiency

Eric Fiedler, founder and co-leader of the Baltimore/D.C. Addison's Support Group, is conducting a survey of adrenal insufficient (Addison's disease and secondary adrenal insufficiency) patients.

Eric is a senior at Johns Hopkins University in Baltimore, Maryland, working toward degrees in neuroscience. This survey is being used as Eric's Undergraduate Research Project. He has the backing of Johns Hopkins University and is conducting the survey under the supervision of Dr. Roberto Salvatori.

Dr. Salvatori is an endocrinologist at Johns Hopkins University who specializes in adrenal and pituitary diseases. He also is one of the foremost researchers in adrenal disease as well as control of growth hormone secretion, genetic causes of growth hormone deficiency, consequences of growth hormone deficiency.

Access Eric's survey here "Qualitative Study on Cushingoid Syndrome Associated with Corticosteroid Replacement Therapy" or on the NADF Website (

The survey should be completed by patients who have adrenal insufficiency, with the exclusion of those who have adrenal insufficiency due to adrenoleukodystrophy, adrenomyeloneuropathy, congenital adrenal hyperplasia (all types) and/or AIDS.

Thank you so much for your participation!

Wednesday, December 02, 2009

Diagnosis of Adrenal Insufficiency Using the GHRP-6 Test: Comparison with the Insulin Tolerance Test in Patients with Hypothalamic-Pituitary-Adrenal Disease

B. Alaioubi1, K. Mann1, S. Petersenn1

1 Department of Endocrinology and Division of Laboratory Research, University of Duisburg-Essen, Essen, Germany


The insulin tolerance test (ITT) is considered the gold standard for the diagnosis of adrenal insufficiency (AI). However, the test is unpleasant to perform and has the risk of serious complications. We therefore evaluated the clinical applicability of GHRP6, which is a known activator of the hypothalamic-pituitary-adrenal (HPA) axis, to test for AI. For this purpose a comparative clinical study was designed.


Forty-nine patients with suspected dysfunction of the HPA axis and 20 healthy controls were enrolled. The ITT was performed in patients, and GHRP6 (1 μg/kg) testing in patients and controls. Serum cortisol over 90 min after GHRP6, in comparison to the ITT, was the main outcome measure.


Thirty-one patients had a peak cortisol response of less than 500 nmol/l during ITT and were considered adrenal insufficient. For GHRP6, the mean cortisol peak was 227±25.7 nmol/l in the AI group versus 395±35.3 nmol/l in the adrenal sufficient (AS) group. ROC analysis of peak cortisol levels during GHRP6 test suggested an optimal threshold of 299 nmol/l for the diagnosis of AI (Sens. 71.0%, Spec. 77.8%). Applying upper (416 nmol/l) and lower (137 nmol/l) thresholds with high specificities in combination with early morning cortisol established the diagnosis in nearly half of the patients, even when the GHRP6 test is limited to 30 min duration. GHRP6 led to significant activation of the HPA axis with no detectable side effects, but had limited accuracy in comparison to the ITT.

Key words

growth hormone secretagogues - ghrelin - insulin tolerance test



Tuesday, December 01, 2009

Jane Austen 'died of tuberculosis not hormonal disorder'

Jane Austen probably died of tuberculosis after drinking unpasteurised milk rather than falling victim to a rare hormonal disorder as is generally assumed, research shows.


By Matthew Moore
Published: 8:00AM GMT 01 Dec 2009



The Pride and Prejudice novelist's premature death aged just 41 has long fascinated medical historians, with several explanations offered for her assorted and curiously mild symptoms.


Most biographers have accepted a posthumous diagnosis published in 1964 that she was one of the first known sufferers of Addison's disease, in which patients' adrenal glands fail to produce sufficient steroid hormones.


But a new reading of Austen's letters indicates that the Emma and Persuasion author was far too lucid in her final days in 1817 to have been dying of Addison's, whose victims usually endure a loss of concentration bordering on delirium as their condition worsens.


Austen was part way through her seventh novel Sandition when she succumbed to the sickness that had dominated her past two years, and was cogent enough to dictate lines of comic verse from her sick bed just 48 hours before her death.


Two months earlier she had written to a friend: "My head was always clear, and I had scarcely any pain."


Katherine White, a scholar and Addison's sufferer, wrote in the Medical Humanities journal that this evidence alone appears to rule out Addison's.


"While Austen was undoubtedly an exceptional intellect, this clarity of thought is not typical of advanced adrenal failure," she wrote.


"Extreme sleepiness, slurred speech, confusion or a semi-conscious state of characteristic of adrenal crises."


Addison's was first proposed as the cause of Austen's death by Sir Zachary Cope, a respected surgeon who specialised in abdominal conditions.


He based his diagnosis – proposed nearly 150 years after her death – on letters sent by the author in which she lamented her bed-ridden exhaustion, bilious attacks and rheumatic pains. Austen's skin also changed tone, turning "black and white and every wrong colour" as she wrote in a letter to her niece.


While acknowledging that these symptoms could indicate Addison's, Mrs White argues that an apparent improvement in Austen's condition as death approached pointed to alternative explanations.


"The absence of pain during her final months is revealing: intense migraine-like headache and generalised arthralgias are the norm for contemporary patients." she wrote.


That the comic writer did not appear to suffer severe weight loss further undermines the Addison's diagnosis, according to White.


She suggests that disseminated tuberculosis affecting the joints and liver – which Sir Zachary proposed as a possible cause of the Addison's – offers a "simpler" and sufficient explanation for Austen's symptoms, particularly as it was rife in the early 19th Century.


The infection likely had bovine origins, she adds, suggesting Austen may have ingested bacteria by drinking milk that had not been treated, like many of her contemporaries.

Austen died in the Hampshire town of Winchester where she had travelled for medical treatment. She was buried in Winchester Cathedral.


Historians have struggled to decipher the private life of the woman behind some of the most enigmatic characters in English literature because her sister Cassandra burned many of her letters and documents after her death.


Tuberculosis was the biggest killer in 19th century Britain, but today almost all strains can be controlled by antibiotics. Addison's disease used to be fatal but steroid replacement therapy now allows most sufferers to live a normal life.



Thursday, November 19, 2009

Isolated Addison’s is unlikely to be caused by mutations in MC2R, MRAP or StAR, three genes responsible for familial glucocorticoid deficiency

Renuka Dias, Li Chan, Louise Metherell, Simon Pearce and Adrian Clark

R Dias, Centre for Endocrinology, Queen Mary University of London, London, ec1m 6bq, United Kingdom
L Chan, Centre for Endocrinology, QMUL, London, United Kingdom
L Metherell, Centre for Endocrinology, QMUL, London, United Kingdom
S Pearce, Institute of Human Genetics, Centre for Life, Newcastle-upon-Tyne, United Kingdom

A Clark, Centre for Endocrinology, QMUL, London, United Kingdom

Correspondence: Renuka Dias, Email:



Familial Glucocorticoid Deficiency (FGD) is a rare autosomal recessive disease caused by ACTH resistance and leads to isolated glucocorticoid deficiency. Although FGD patients typically have normal mineralocorticoid secretion, subtle alterations in the renin-angiotensin-aldosterone axis have been reported in a subset of patients at presentation. Anecdotally some patients with FGD have been initially diagnosed as having AD, with implications for treatment and genetic counselling. Currently mutations in 3 genes: the ACTH receptor (MC2R); the melanocortin 2 receptor accessory protein (MRAP) and the Steroidogenic Acute Regulatory protein (StAR) are known to give rise to FGD types 1-3. We investigated a cohort of autoantibody-negative AD patients for mutations in these genes .



40 patients with known AD without evidence of autoimmune disease were screened for mutations in MC2R, MRAP and StAR . In addition patients were genotyped for the MC2R promoter polymorphism previously associated with reduced responsiveness to ACTH.



No mutations in MC2R, MRAP or StAR were identified in any patient. The frequencies of the MC2R promoter polymorphism were similar to those reported in healthy controls.



FGD does not appear be underdiagnosed in the AD population. However, in ~50% of patients with FGD no genetic cause has yet been identified and it is possible that the other, as yet unidentified genes giving rise to FGD maybe implicated in AD.



Tuesday, November 03, 2009

Are doctors ever really off duty?

I found this article especially interesting.  This question was asked of a group of endos at an NIH conference a few years ago - if you saw someone on the street who looked like they had symptoms of fill-in-the disease, would you suggest that they see a doctor.  The general answer was no.  No surprise there. 

Patients, if you see someone who looks like s/he has Cushing's, give them a discrete card.

Spread The Word! Cushing's Pocket Reference

Robin Writes:

This has been a concern of mine for some time. Your post spurred me on to do something I've been meaning to do. I've designed something you can print that will fit on the business cards you can buy just about anywhere (Wal-mart included). You can also print on stiff paper and cut with a paper cutter or scissors. I've done a front and a back.

Cushing's Pocket Reference

Here are the links:

Front: This card is being presented by a person who cares.
Back (The same for everyone)

This Topic on the Message Boards


And now, the article from

Are doctors ever really off duty?

Which potentially serious symptoms would prompt them to stop and advise a stranger on a bus?

By Lucy Atkins


Passengers on a London bus. Photograph: David Levene

A Spanish woman of 55, Montse Ventura, recently met the woman she refers to as her "guardian angel" on a bus in Barcelona. The stranger – an endocrinologist – urged Ventura to have tests for acromegaly, a rare disorder involving an excesss of growth hormone, caused by a pituitary gland tumour. How had the doctor made this unsolicited diagnosis on public transport? Apparently the unusual, spade-like shape of Ventura's hands was a dead giveaway.

But how many off-duty doctors would feel compelled to alert strangers to symptoms they spot? "If I was sitting next to someone on a bus with a melanoma, I'd say something or I wouldn't sleep at night," says GP Mary McCullins. "We all have a different threshold for interfering and you don't want to terrify people, but this is the one thing I'd urge a total stranger to see a doctor about." So what other symptoms might prompt a doctor to approach someone on the street?

Moon face

Cushing's syndrome is another rare hormone disorder which can be caused by a non-cancerous tumour in the pituitary gland. "A puffy, rounded 'moon face' is one of the classic signs of Cushing's," says Dr Steve Field, chair of the Royal College of GPs. "In a social situation, I wouldn't just say, 'You're dangerously ill' but I'd try to elicit information and encourage them to see a doctor."

Different-sized pupils

When one pupil is smaller than the other, perhaps with a drooping eyelid, it could be Horner's syndrome, a condition caused when a lung tumour begins eating into the nerves in the neck. This can be the first obvious sign of the cancer. "I'd encourage someone to get this checked out," says Dr Simon Smith, consultant in emergency medicine at the Oxford Radcliffe Hospitals Trust. "People often have an inkling that something's wrong, and you might spur them to get help sooner."

Clubbing fingers

Some people are born with club-shaped fingers, but if, over time, they become "drumstick-like", this could signify serious problems such as lung tumours, chronic lung infections or congenital heart disease. "Because it happens gradually, some people disregard clubbing," says Smith. "But I'd say something because it can be an important symptom in many serious illnesses."

Lumpy eyelids

Whitish yellowy lumps around the eyelids can be a sign of high cholesterol, a major factor in heart disease. Sometimes you also get a yellow circle around the iris. "I would suggest they got a cholesterol test with these symptoms," says Smith. "They can do something about it that could save their life."

Suntan in unlikely places

A person with Addison's disease, a rare but chronic condition brought about by the failure of the adrenal glands, may develop what looks like a deep tan, even in non sun-exposed areas such as the palms. Other symptoms (tiredness, dizziness) can be non-specific so the condition is often advanced by the time it is diagnosed. Addison's is treatable with lifelong steroid replacement therapy. "If someone was saying they hadn't been in the sun but had developed a tan, alarm bells would ring and I'd probably ask how they were feeling," says McCullins.

Trench mouth

Putrid smelling breath – even if the teeth look perfect – can be a sign of acute necrotising periodontitis. "I'd be able to tell when someone walks through the door," says dentist Laurie Powell. "But people become accustomed to it and don't notice." Untreated, the condition damages the bones and connective tissue in the jaw. It can also be a sign of other diseases such as diabetes or Aids.

Tuesday, October 20, 2009

8 new Cushing's bios added. dx include 1 pituitary, 1 diagnosed not sure of type, 6 undiagnosed at or

Monday, October 19, 2009

Münchausen By Media - what do you think?

Monday, October 19, 2009

Cushing's locations page updated, 9 new people added from England, USA.

Thursday, October 15, 2009

<~~ not observant. Your blog was already there! @CatONineTales

Thursday, October 15, 2009

Adrenal crisis in treated Addison’s disease: a predictable but under-managed event

K White, Clinical Advisory Panel, Addison's Disease Self-Help Group, Hertford, SG13 8AZ, United Kingdom
W Arlt, Division of Medical Sciences, University of Birmingham College of Medical and Dental Sciences, Birmingham, United Kingdom

Katherine White, Email:


Adrenal crisis is a life-threatening event that occurs regularly in Addison’s patients receiving standard replacement therapy. Patient reports suggest that it is an under-estimated and under-managed event.


To assess the frequency of adrenal crisis is diagnosed patients and to understand the factors contributing to the risks of adrenal crisis.


We conducted a postal survey of Addison’s patients in four countries (UK N=485, Canada (N=148), Australia (N= 1237) and New Zealand (N=85) in 2003, asking about patients’ experiences of adrenal crisis and their demographic characteristics. In 2006 a shorter, follow-up survey was conducted in the UK (N=261).


The frequency and causes of adrenal crisis were compared across both surveys. Demographic data from the 2003 survey was analysed to establish the main variables associated with an elevated risk of crisis.


Around 8% of diagnosed cases can be expected to need hospital treatment for adrenal crisis annually, with exposure to gastric infection the single most important factor predicting the likelihood of adrenal crisis. Concomitant diabetes and/or asthma increase the frequency of adrenal crises reported by patients.


The endocrinologist has a responsibility to ensure that Addison’s patients have adequate access to life-saving emergency injection materials and repeated, practical training sessions in how to use them, while the GP plays a vital role as in arranging prompt emergency admissions.


Tuesday, October 13, 2009

Hydrocortisone Dosing during Puberty in Patients with Classical Congenital Adrenal Hyperplasia: An Evidence-Based Recommendation

Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2009-0942
The Journal of Clinical Endocrinology & Metabolism Vol. 94, No. 10 3882-3888
Copyright © 2009 by The Endocrine Society

Hydrocortisone Dosing during Puberty in Patients with Classical Congenital Adrenal Hyperplasia: An Evidence-Based Recommendation

Walter Bonfig, Susanne Bechtold Dalla Pozza, Heinrich Schmidt, Philipp Pagel, Dietrich Knorr and Hans Peter Schwarz

University Children’s Hospital (W.B., S.B.D.P., H.S., D.K., H.P.S.), Ludwig Maximilians University, Division of Pediatric Endocrinology, D-80337 Munich, Germany; and Division of Bioinformatics (P.P.), Technical University, D-80337 Munich, Germany

Address all correspondence and requests for reprints to: Walter Bonfig, M.D., University Children’s Hospital, Division of Endocrinology, Ludwig Maximilians University, Lindwurmstr. 4, D-80337 Munich, Germany. E-mail:

Context: Patients with congenital adrenal hyperplasia (CAH) are at risk for early pubertal development and diminished pubertal growth. Liberal treatment with glucocorticoids will prevent early puberty but may inhibit growth outright.

Objective: The aim of the study was to determine an optimal range for hydrocortisone dosing during puberty in children with classical CAH who were exclusively treated with hydrocortisone.

Methods: The effects of glucocorticoid treatment for classical CAH were retrospectively analyzed in 92 patients (57 females). Growth pattern, final height (FH), and mean daily hydrocortisone dose were recorded.

Results: Pubertal growth was significantly reduced in all patients: salt-wasting (SW) females, 13.8 ± 7.4 cm; simple virilizing (SV) females, 13.1 ± 6.2 cm; vs. reference, 20.3 ± 6.8 cm (P < 0.05); and SW males, 17.7 ± 6.7 cm; SV males, 16.2 ± 5.7 cm; vs. reference, 28.2 ± 8.2 cm (P < 0.05). Decreased pubertal growth resulted in FH at the lower limit of genetic potential (corrected FH in SW females, –0.6 ± 0.9; SV females, –0.3 ± 0.9; SW males, –0.8 ± 0.8; and SV males, –1.0 ± 1.0). During puberty, mean daily hydrocortisone dose was 17.2 ± 3.4 mg/m2 in females (SW, 17.0 ± 3.3; SV, 17.4 ± 3.5) and 17.9 ± 2.5 mg/m2 in males (SW, 17.4 ± 2.0; SV, 18.7 ± 3.1). In a logistic regression model, a significant correlation between hydrocortisone dose and FH was found (P < 0.01), and the positive predictive value for short stature rose from below 30% to above 60% when hydrocortisone dose exceeded 17 mg/m2.

Conclusion: With conventional hydrocortisone treatment, pubertal growth is significantly reduced in both sexes, resulting in a FH at the lower limit of genetic potential. These deleterious effects on pubertal growth can be reduced if hydrocortisone does not exceed 17 mg/m2.


Monday, October 12, 2009

New! Discussion/Debate Topics

I've started yet another blog to go with the Cushie Info website.

From time to time, I'll be posting topics for discussion/debate there and your comments are welcome.  On the left side of this blog is a little comment area so you can see the last 5 comments and/or questions.  If by some magic there are a lot of comments, I'll make that more than 5.

Just click on the Jump To link to participate in the debate!  Thanks.


Oh, and by the way - the newest blog is here:

Sunday, October 11, 2009

Adrenal Blog Alert ~ 10/10/2009

survive the journey: Stars Go Blue
By Robin

Ultimately, Sam was diagnosed with Primary pigmented nodular adrenocortical disease (PPNAD), a disease which causes the adrenal glands to make too much cortisol. On April 8, 2003 (Harvey Cushing's birthday and Cushing's Awareness Day), ...

survive the journey -

Sunday, October 11, 2009

ACTH-producing pheochromocytoma: Clinical considerations and concise review of the literature

M.F. Nijhoffab, O.M. Dekkersac, L.J. Vlemingb, J.W.A. Smita, J.A. Romijna, A.M. PereiraaCorresponding Author Informationemail address

Received 5 May 2009; received in revised form 9 July 2009; accepted 10 August 2009. published online 01 September 2009.


We present a patient with a rare cause of ectopic ACTH-dependent Cushing's syndrome, caused by a pheochromocytoma. The case provides clues for a detailed discussion on the pitfalls and diagnostic difficulties in establishing the correct underlying cause of ACTH-dependent Cushing's syndrome. It clearly demonstrates that the relative contributions of clinical, biochemical, and radiological clues in establishing the correct underlying cause of Cushing's syndrome may differ considerably between Cushing's disease and Cushing's syndrome due to ectopic overproduction of ACTH. In addition, the literature concerning ACTH-producing pheochromocytomas is reviewed.


Keywords: Pheochromocytoma, Adrenocorticotropic hormone, Cushing's syndrome, ACTH syndrome, Ectopic

a Department of Endocrinology & Metabolism, C4-R, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands

b Department of Internal Medicine, HAGA, location Leyenburg, Leyweg 2752545 CH the Hague, The Netherlands

c Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands

Corresponding Author InformationCorresponding author. Tel.: +31 71 6263082; fax: +31 71 524 8146.

PII: S0953-6205(09)00159-9


© 2009 European Federation of Internal Medicine. Published by Elsevier Inc All rights reserved.



Saturday, October 10, 2009

Sam and Jackie Cushing's episode on Mystery Diagnosis now available on amazon only 1.99!

Saturday, October 10, 2009

The Symptoms And Treatment of Addison’s Disease

MaryO'Note:  I provide this article "as is" - I don't know about homeopathic remedies for serious diseases like this!  Always seek medical opinions before self-medicating.


The Symptoms And Treatment of Addison’s Disease

Dee Braun is the woman behind a non-profit project working to make a difference in our world by providing quality Natural Health & Healing information while raising awareness of important causes & initiatives at [1] United to make a difference – If not us, who?


Addison’s disease is an endocrine disorder that effects a very small percentage of the population. Only between one and four in 100,000 people are diagnosed with it. When the adrenal cortex does not produce enough hormones addison’s disease is likely present.


The symptoms show up much more clearly if someone is going through some type of trauma. Another event that will cause the symptoms of addison’s disease to surface is a period of metabolic stress.


When the adrenal glands cease to function normally a person can become extremely ill. The adrenal glands produce cortisol which is vitally important to the function of your body.


Without cortisol your body would have trouble regulating the metabolism of carbs, fat and protein. Cortisol is also responsible for helping the body respond to stress, keeping the blood sugar level normal and mobilizing nutrients.


Addison’s disease goes through three stages of symptom’s depending on how serious it is. At first sign of addison’s there might be loss of weight, pain in the abdomen, muscle weakness and dizziness when standing up. As addison’s becomes more serious the symptoms become more acute. During the middle stages of addison’s you might see dehydration, drop in blood pressure, end of menstruation, depression and darkening of the skin.


Addison’s is often not diagnosed early and makes itself known during an addisonian crisis. This is the final stage that the disease goes through and is critically dangerous. If you are having loss of consciousness, extreme blood pressure shifts, severe back pain, Abnormal heart rhythm, severe pain in the abdomen or kidney failure then you might be having an addisonian crisis. It goes without saying you need to be in the emergency room immediately.


Addison’s disease is not something that goes away or can be cured. If you are diagnosed with it you will have to go through therapy to replace your steroids for the rest of your life. Cortisol and aldosterone are chemicals your body must have to continue functioning.


A combination of homeopathic remedies and conventional medicine can help you lead a productive life, once again. Cortisone acetate tablets or hydrocortisone are used to replace the cortisol in your body. The aldosterone is replaced with a medication called fludrocortisone acetate tablets.


Some natural medicine’s that will help with your addison’s include: borago officinalis, eleutherococcus senticosis and astragalus membranaceous. All three of these support the adrenal glands and help to combat normal daily stress. Another helpful herb is ginger which is good for helping with your digestion and fighting against nausea.


Article Source: Health Reform

Saturday, October 10, 2009

Genetic testing in pheochromocytoma


Posted by Thomas Repas, DO, FACP, FACE, CDE  October 8, 2009 03:57 PM


Recently a colleague asked me about a patient she had with recurrent pheochromocytoma. I wondered about his family history and whether genetic testing would be appropriate.


Most solitary adrenal pheochromocytomas are sporadic. However, up to 24% may have mutation on genetic testing, even without family history. In familial disorders, pheochromocytoma is more likely to be bilateral and often presents at younger ages.


There are several disorders associated with familial pheochromocytoma and paraganglioma. These include: multiple endocrine neoplasia type 2, von Hippel-Lindau syndrome, neurofibromatosis type 1 and familial paraganglioma.


MEN2 is due to mutations of the RET proto-oncogene. In addition to medullary thyroid cancer and primary hyperparathyroidism, MEN2 can also be associated with pheochromocytoma, often bilateral. Pheochromocytoma occurs in about 50% of cases with MEN2. Patients with pheochromocytoma due to MEN2 often present at younger ages and with less hypertension than those with sporadic disease.


Von Hippel-Lindau syndrome is due to a mutation in the VHL tumor suppressor gene. In addition to pheochromocytoma (often bilateral) and rarely paragangliomas, von Hippel-Lindau syndrome is also associated with retinal angiomas, cerebellar hemangioblastoma, renal cell carcinoma and other tumors/cysts. The pheochromocytomas associated with von Hippel-Lindau syndrome tend to present at younger ages and are often clinically silent.


Neurofibromatosis type 1 is an autosomal disorder associated with neurofibromas, axillary freckling, café au lait spots and iris hamartomas. Only 2% to 5% of patients with neurofibromatosis type 1 will have pheochromocytoma. Most are solitary. Bilateral adrenal pheochromocytoma and extra-adrenal paragangliomas can occur but are rare.


Familial paraganglioma is an autosomal disorder due to mutations in the succinate dehydrogenase subunit genes (SDHB, SDHC, SDHD). The SDHC and SDHD mutations are associated with clinically silent head and neck paragangliomas. The SDHB mutation is associated with thoracic, abdominal and pelvic paragangliomas, often functioning. Those with the SDHB mutation tend to present at younger ages and are more likely to develop malignant disease.


Which individuals with pheochromocytoma/paraganglioma should be tested for genetic mutation? The patient must always be involved in this discussion. Identifying a mutation in a family can have implications, all of which must be discussed fully before testing is performed. Although most pheochromocytoma are sporadic, missing a genetic syndrome could have serious, even fatal, consequences for that patient and family member. Genetic testing is expensive, however, and not often covered by insurance.


Testing should be considered in bilateral, multifocal, recurrent or malignant disease, family history of catecholamine secreting tumor, extra-adrenal paragangliomas, early age of onset or history suggesting one of the syndromes discussed above. Family members at risk should not be tested until a mutation is confirmed in the person afflicted.


An excellent review is available at



Friday, October 09, 2009

"Mild" is probably not diagnosable esp with typo! @helpareporter XX is seeking women (non-experts) between 30 & 55 who have Mild Crushing's.

Thursday, October 08, 2009

4 new and updated Cushing's bios added. dx include 1 pituitary, 3 undiagnosed OR

Thursday, October 08, 2009

Cushing's locations page updated, 4 new people added from England, US.

Monday, October 05, 2009

3 new and updated Cushing's bios added. dx include 1 adrenal, 2 undiagnosed OR

Monday, October 05, 2009

Cushing's locations page updated, 3 new people added from Canada, Japan, US.

Friday, October 02, 2009

NIH Research Festival

Thursday, October 01, 2009

3 new and updated Cushing's bios added. dx include 1 pituitary, 2 undiagnosed or

Thursday, October 01, 2009

Cushing's locations page updated, 4 new people added.

Tuesday, September 29, 2009

An NIH survey about health stuff. Fill it out if you have a minute :)

Tuesday, September 29, 2009

Addison's Blog Alert

Training because I can! Addison's disease, exercise and living in ...
By Dusty

Just because you have Addison's Disease or another chronic illness, don't settle for half a life when so much more is possible! You can have good health, you can do the things you want to do no matter what they are! ...

Training because I can! Addison's... -

Friday, September 25, 2009

New Cushing's Helpful Doctor added in North Carolina

Friday, September 25, 2009

Cushing's locations page updated, 3 new people added.

Tuesday, September 22, 2009

Thanks so much, Robin! RT @staticnrg: @cushings Happy Birthday!!!!! W00t!!!!!!!

Tuesday, September 22, 2009

Thanks so much, Jess! :) RT @llama3234: @Cushings HAPPY BIRTHDAY!! HOPE IT'S GREAT!

Saturday, September 19, 2009

RT @staticnrg: @kevinmd (worth a read)

Friday, September 18, 2009

Thanks! I try :) RT Get2BJ: @cushings Liking the look of the new site, very easy on the eye!

Friday, September 18, 2009

New for members of! Track health & fitness stats. Achieve your goals, print charts for doctors. Add your own items.

Friday, September 18, 2009

You bet! Thanks! RT @staticnrg: RT @ekivemark: #med2 Patients value unedited, uncensored and non-statistical infor <==Yes! ( @cushings )

Friday, September 18, 2009

Jon's pituitary interview from last night available on Cushie Chats Podcast (iTunes) and online at OR

Friday, September 18, 2009

Addison's Blog Alert, 9/18/2009

Addison's disease: two years post-diagnosis « Oikos mou
By Lauren

This time two years ago, I was in the harsh throes of undiagnosed, untreated Addison’s disease. I find it difficult to write about personal stress in my life, and Addison’s disease has stress as its epicenter. I find it even more difficult to write about my own church as a source of stress, but all relationships in one way or another come with stress, and a church presents a lot of relationships. These difficulties notwithstanding, I hope my account might be useful — validating, vindicating, or encouraging — for other people with Addison’s who have experienced, for whatever reasons in their own lives, overwhelming stress. The point is, each person must manage his stress where he encounters it.


Many people experience “anniversary stress” around the same time that a very stressful event occurred in a previous year. I suppose right now I’m experiencing anniversary stress over events and sensations that I experienced in the months before and following my diagnosis...

Read the rest at Oikos mou -

Thursday, September 17, 2009

@staticnrg Thanks for being there! It's always better when you are :)

Thursday, September 17, 2009

Archives will be available after the interview at and iniTunes

Thursday, September 17, 2009

Read Jon's bio at

Thursday, September 17, 2009

Tonight! in 30 minutes Cushing's Interview with Jon, pituitary patient. Listen

Wednesday, September 16, 2009

RT @rilescat: Please help to build the Health Care Social Media List...put a link on your blog or site:

Wednesday, September 16, 2009

RT @invisibleillwk: Effectively communicate your illness & #pain #iiwk09 seminar Karen Lee Richards 9/17 530PM

Wednesday, September 16, 2009

Thurs, 7:30PM EST Cushing's Interview with Jon, pituitary patient. Listen at Call-in 646-200-0162

Tuesday, September 15, 2009

RT @staticnrg: Is Cushing's an invisible illness?? You bet: #iiwk09 #invisibleillness #cushings

Monday, September 14, 2009

RT @accarmichael: Awesome Amy Tenderich talk: pts use networks for information, emotional support, advocacy.Also decision support! #txfm09

Monday, September 14, 2009

Diagnosing Pheochromocytoma (Adrenal Tumor)

Posted by Allie Vance | 13 September 2009, 7:30 pm

The body’ s electrolytes (sodium and potassium) levels are maintained by the kidneys and also by two small glands that sit right on top of each kidney. These glands are called adrenal glands. An uncommon tumor, called pheochromocytoma (present in 0.2% of people who have high blood
pressure), may sometimes be present in one of the adrenal glands. This can throw a diagnostic puzzle at the physician. You may end up getting treated for a variety of disorders, such as panic attacks, hypertension, heart arrhythmia, migraine headaches and more. This little devil has can mimic almost anything. In my clinical practice I have come across one such case.

Step 1

The mechanism behind the signs and symptoms of pheochromocytoma is the secretion of various chemical and hormonal substances released by the tumor cells such as serotonin, epinephrine, norepinephrine and dopamine. Most of these hormones are excitatory and are normally secreted by the body especially on the occasions of excitement, causing an increase in the heart rate, blood pressure, breathing and sweating.

Step 2

The “Classic triad”:

The three classical symptoms of pheochromacytoma that should prompt your doctor to evaluate you for pheochromocytoma are: episodic headache, sweating and tachycardia.

Step 3

Sustained or paroxysmal hypertension is the most common sign of pheochromocytoma. A young person with very high blood pressure should definitely be considered for evaluation of pheochromocytoma. Five to 15 percent of patients, however, have normal blood pressure.

Step 4

Other symptoms may include palpitations, shortness of breath, generalized weakness and panic attack-type symptoms.

Step 5


The following labs should be ordered if Pheochromocytoma is suspected:

* A 24-hour urine catecholamine and metanephrines
* Fractionated plasma free metanephrines
* Plasma catecholamine
* Clonidine suppression test (A drug called Clonidine is administered orally, and plasma catecholamine or fractionated metanephrines are measured before and three hours after the dose)

Radiologic tests:
* CT and MRI may be used to locate the tumor in the adrenal glands
* If CT and MRI fail to locate the tumor and if the biochemical tests are positive then 123-I-metaiodobenzylguanidine (MIBG) scintigraphy may be done

Other imaging:

* Octreoscan
* Total body MRI
* PET scanning (Positron Emission Topography)

Warnings About 10 percent of all catecholamine-secreting tumors are malignant. Malignant pheochromocytomas are histologically and biochemically the same as benign ones. The only difference is that malignant pheochromocytoma is locally invasive and throws distant metastases, which may occur as long as 20 years after resection. Therefore a careful follow-up is warranted

- By shahbasharat | AC



Sunday, September 13, 2009

Who helped you learn Twitter? Tweet their @username & add #TwitterHelper - @staticnrg convinced me to try it.

Sunday, September 13, 2009

RT staticnrg: Growth Hormone for Survival: It's not always controversial

Saturday, September 12, 2009

RT @MollyDugganLLC: Womens Health: Calendar of Events Date: September 2009 October 2009 Novemb Full

Saturday, September 12, 2009

Did you know you could *listen* to Cushing's posts at ? Info is read aloud at the click of a button!

Saturday, September 12, 2009

Several studies have suggested that the prevalence of Cushing's syndrome is higher than previously thought.

Saturday, September 12, 2009

Cushing's locations page updated, 4 new people added.

Saturday, September 12, 2009

4 new and updated Cushing's bios added. dx include 2 pituitary, 1 undiagnosed, 1 steroid-induced

Saturday, September 12, 2009

Have you found website? Also, message/support boards there?

Saturday, September 12, 2009

Rare disorder explains JFK's health woes

A review of President Kennedy's medical records also shows a family history of autoimmune diseases.

By Susan J. Landers, AMNews staff. Posted Sept. 11, 2009.


New research points to an autoimmune endocrine disorder as the cause of at least some of President John F. Kennedy's health problems.


Despite his relative youth -- at 43, Kennedy remains the youngest person elected president -- and his seeming vigor, Kennedy "had the most complex health history of anyone to occupy the White House," said Lee R. Mandel, MD, MPH, senior medical officer of the aircraft carrier USS George H.W. Bush and a historian interested in presidential medicine. His findings were published in the Sept. 1 Annals of Internal Medicine (


For his study, Dr. Mandel combined evidence gleaned from his review of Kennedy's medical records at the John F. Kennedy Presidential Library and Museum in Boston, with material obtained from additional sleuthing. Kennedy's complex medical history has received much scrutiny since his medical records were made public in 2002.


Dr. Mandel found mentions of Kennedy being diagnosed with hypothyroidism and Addison's disease.

"The fact that Kennedy, who unequivocally had Addison's disease, also had hypothyroidism leads to the plausible conclusion that there was an autoimmune basis for his medical problems, and APS 2 [autoimmune polyendocrine syndrome type 2] explains these conditions," Dr. Mandel wrote.


"I saw the common thread that other people had commented on casually," he said in an interview. "I think he did have an autoimmune syndrome."


Autoimmune thyroid disease coexists with Addison's disease in two-thirds of cases. APS 2 typically occurs in early adulthood, at around age 30, the age Kennedy was when Addison's disease was diagnosed, Dr. Mandel said.


Autoimmune syndromes are often found in families, he added. "[Kennedy's] sister Eunice [Kennedy Shriver], who just passed away, was believed to have Addison's disease and his son, John F. Kennedy Jr., had Graves' disease."


Kennedy also had intestinal ailments likely caused by undiagnosed celiac disease, Dr. Mandel said.


In an era when media scrutiny is less intense than today, Kennedy and his physicians were able to conceal many of his health problems or attribute them to heroic activities. For example, back pain stemming from his degenerative condition was instead attributed to a war injury. Symptoms from his Addison's disease were described as a recurrence of malaria contracted in World War II.


But even if he were running for election today rather than in 1960, Kennedy's Addison's disease would likely not prove an obstacle. Even without modern advances, Kennedy's disease was well-controlled, Dr. Mandel said. He attributed that feat to Kennedy's endocrinologist, Eugene Cohen, MD, "the brains behind the management of the disease."



Thursday, September 10, 2009

11 new Cushing's symptoms photos added September 10, 2009

Thursday, September 10, 2009

I've had the petrosal sinus sampling and lots on the message boards have!

Thursday, September 10, 2009

Petrosal sinus sampling? Lots have! RT stillenuf: Anyone had the cavernous & p? where they go in both sides of groin.. to determine cushings

Thursday, September 10, 2009

Please join us! RT @staticnrg: @cushingsfriend Have you discovered I hope you'll join us there.

Saturday, September 05, 2009

@cushingsfriend I hope so, too! I think he'd learn a lot and meet others. That's the best, meeting others in same boat.

Saturday, September 05, 2009

Gender Role Behavior, Sexuality, and Psychosocial Adaptation in Women with Congenital Adrenal Hyperplasia due to CYP21A2 Deficiency

Louise Frisén, Anna Nordenström, Henrik Falhammar, Helena Filipsson, Gundela Holmdahl, Per Olof Janson, Marja Thorén, Kerstin Hagenfeldt, Anders Möller and Agneta Nordenskjöld1

Department of Psychiatry (L.F.), Danderyd Hospital, SE-18287 Stockholm, Sweden; Department of Clinical Sciences (L.F.), Karolinska Institutet, Danderyd Hospital, SE-171 77 Stockholm, Sweden; Department of Pediatrics (An.N.), Astrid Lindgren Children Hospital, Karolinska University Hospital, SE-171 76 Stockholm, Sweden; Department of Clinical Science, Intervention, and Technology (An.N.), Karolinska Institutet, SE-171 77 Stockholm, Sweden; Department of Endocrinology, Metabolism and Diabetes (H.Fa., M.T.), Karolinska University Hospital, SE-171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery (H.Fa., M.T.), Karolinska Institutet, SE-171 77 Stockholm, Sweden; Department of Endocrinology (H.Fi.), Sahlgrenska University Hospital, Sahlgrenska Academy at University of Gothenburg, S-405 30 Gothenburg, Sweden; Department of Pediatric Surgery (G.H.), Queen Silvia Children Hospital, Sahlgrenska Academy at University of Gothenburg, S-405 30 Gothenburg, Sweden; Department of Obstetrics and Gynecology (P.O.J.), Sahlgrenska University Hospital, Sahlgrenska Academy at University of Gothenburg, S-405 30 Gothenburg, Sweden; Department of Woman and Child Health (K.H., Ag.N.), Karolinska Institutet, SE-171 77 Stockholm, Sweden; Nordic School of Public Health (A.M.), SE-402 42 Gothenburg, Sweden; and Department of Pediatric Surgery (Ag.N.), Astrid Lindgren Children Hospital, Karolinska University Hospital, SE-171 76 Stockholm, Sweden


Address all correspondence and requests for reprints to: Louise Frisén, M.D., Ph.D., Research and Development Section, Department of Psychiatry, Danderyd Hospital, SE-18287 Danderyd, Sweden. E-mail:


Context: Gender-atypical behavior has been described in young girls as well as in women with congenital adrenal hyperplasia (CAH) due to a CYP21A2 deficiency.


Objective: The aim of the study was to assess health-related, psychosexual, and psychosocial parameters and correlate the results to CYP21A2 genotype.


Design and Participants: Sixty-two Swedish women with CAH and age-matched controls completed a 120-item questionnaire and a validated quality of life instrument [psychological general well-being (PGWB) formula] to identify psychosexual and psychosocial parameters. The patients were divided into four CYP21A2 genotype groups.


Results: The women with CAH held more male-dominant occupations (30%) compared to controls (13%) (P = 0.04), especially those in the null genotype group (55%) (P = 0.006). They also reported a greater interest in rough sports (74%) compared to controls (50%) (P = 0.007). Eight women with CAH (14%) reported a prime interest in motor vehicles, compared to none of the controls (P = 0.002). Non-heterosexual orientation was reported by 19% of women with CAH (P = 0.005), 50% in the null genotype group (P = 0.0001), 30% in I2splice (NS), and 5% in I172N (NS). PGWB total score did not differ between patients and controls.


Conclusion: We identified increased gender-atypical behavior in women with CAH that could be correlated to the CYP21A2 genotype. This speaks in favor of dose-dependent effects of prenatal androgens on the development of higher brain functions. The impact of the disease on upbringing and interpersonal relationships did not correlate with disease severity, indicating that other factors, such as coping strategies, are important for psychosocial adaptation. This illustrates the need for psychological support to parents and patients.



Wednesday, September 02, 2009

6 new Cushing's bios added. 1 adrenal, 4 pituitary, 1 undiagnosed

Wednesday, September 02, 2009

6 new Cushie locations added.

Wednesday, September 02, 2009

Lots of us with Cushing's! RT DupontDan: Why do the docs on house always think the patient has cushings...? Does anyone actually get those?

Monday, August 31, 2009

Addison’s Blog Alerts

Addison's Disease « 82Pounds
By 82pounds
I was looking at one of the Addison's forums I sometimes follow, and was very sad to see that a beautiful girl about my age, who was diagnosed the same time as me last summer, passed away due to Addison's Disease. ...
82Pounds -


Addison's Disease! I totally got the Mystery Diagnosis today, and I don't even like endocrinology. If JFK hadn't been shot, he would have died of Addison's disease. In any event, summer is pretty much over. Saddening, but it's been a ...
.lkw -

Friday, August 28, 2009

For sure! RT @sandyboone: Great workshop on Photoshop CS4 - learning a lot.

Tuesday, August 25, 2009

2 new and updated Cushing's bios added. dx include 1 adrenal, 1 pituitary

Tuesday, August 25, 2009

Cushing's locations page updated, 2 new people added.

Tuesday, August 25, 2009

6 new and updated Cushing's bios added. dx include 1 pituitary, 5 undiagnosed

Tuesday, August 25, 2009

Cushing's locations page updated, 5 new people added.

Saturday, August 22, 2009

@staticnrg The spam message is gone from my dashboard - maybe it's been marked ok?

Saturday, August 22, 2009

@staticnrg I know - it's still marked as spam. I don't know when it will get released. :( Thanks for trying!

Friday, August 21, 2009

This Blog was Marked Spam???

Today I got a message that this blog is shut down. I have filled out the form to appeal this. Unbelievable waste of time.

I spend hours scouring the news for items that will help others with Addison's (or Cushing's, or interested in Barbados, or piano) or I write about me. No profit anywhere. But I'm marked as a bad guy.

Aug 1 on Blogger Buzz at they wrote:

While we wish that every post on this blog could be about cool features or other Blogger news, sometimes we have to step in and admit a mistake.

We've noticed that a number of users have had their blogs mistakenly marked as spam, and wanted to sound off real quick to let you know that, despite it being Friday afternoon, we are working hard to sort this out. So to those folks who have received an email saying that your blog has been classified as spam and can't post right now, we offer our sincere apologies for the trouble.

We hope to have this resolved shortly, and appreciate your patience as we work through the kinks.

August 2, they wrote:

You Are Not Spam

You knew that already, and now we do too. We have now restored all accounts that were mistakenly marked as spam yesterday. (See: Spam Fridays)

We want to offer our sincerest apologies to affected bloggers and their readers. We’ve tracked down the problem to a bug in our data processing code that locked blogs even when our algorithms concluded they were not spam. We are adding additional monitoring and process checks to ensure that bugs of this magnitude are caught before they can affect your data.

At Blogger, we strongly believe that you own and should control your posts and other data. We understand that you trust us to store and serve your blog, and incidents like this one are a betrayal of that trust. In the spirit of ensuring that you always have access to your data, we have been working on importing and exporting tools to make it easier to back up your posts. If you'd like a sneak peek at the Import / Export tool, you can try it out on Blogger in Draft.

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Friday, August 21, 2009

Adrenal gland calls for lifelong treatment

Dr. Paul Donohue / Your Good Health


DEAR DR. DONOHUE: I am 54. Last year, after two months in two different hospitals, I was diagnosed with Addison's disease. I have to take prednisone daily. I have gained 84 pounds, and now I have type 2 diabetes. I know Addison's has to do with the adrenal glands shutting down. To what extent do they shut down? I've been told this is fatal. Do I take medicine for the rest of my life? Please explain Addison's disease to me. - V.B.


ANSWER: Weighing in at only 1/10 ounce, each adrenal gland - one sitting above the right kidney, and one above the left kidney - performs complicated and life-maintaining jobs for the body. They produce cortisone, which guides the metabolism of sugars, proteins and fats, and limits body inflammation. They make other hormones that regulate body sodium and potassium levels and keep blood pressure from plummeting. And they make hormones like adrenalin, which keeps us on our toes when danger threatens. Adrenal-gland shutdown does kill if left untreated. Ninety percent of the glands have to be destroyed before the body begins to fall apart.


Fatigue and muscle weakness are two prominent symptoms of Addison's disease. Appetite disappears. Nausea, vomiting and weight loss are common. Blood pressure falls. Body stores of sodium become depleted, but body potassium rises.


In the old days, tuberculosis was the cause for most Addison's cases. Today, the cause is believed to be an immune attack on the glands.


Treatment for Addison's is straightforward: Replace the missing hormones. Prednisone is one often chosen. Treatment is for life. Your weight gain is not entirely due to prednisone. You are getting a dose that replaces the missing hormone, the same dose your glands would provide for you. If weight gain is a big problem, you have to increase your physical activity and decrease your calories. Weight loss will help with diabetes control.



Monday, August 17, 2009

Invisible Chronic Illness: Addison’s Disease

Our own Robin (staticnrg)'s blog - - is mentioned at the end!

This week the Grand Round will be hosted by Invisible Illness Week, a blog dedicated to the National Invisible  Ilness Week, which runs September 14 -20, 2009. The purpose:

National Invisible Chronic Illness Awareness Week  (..) is a worldwide effort to bring together people who live with invisible chronic illness and those who love them. Organizations are encouraged to educate the general public, churches, healthcare professionals and government officials about the impact of living with a chronic illness that is not visually apparent.

The theme of the Grand Round is, not very surprisingly: Invisible chronic Illness.

I won’t write about this professionally -being a librarian-, but I will speak from my own experience.

As many of you know, I’ve the chronic illness Addison’s Disease. Not that I feel ill. It doesn’t affect me, really… Not anymore.. I think.

But many people with Addison’s disease suffer silently from this disease. And like many other diseases this disease is seldomly understood by partners, colleagues, friends ….. and doctors.

Before I explain more about Addison’s disease, first let me say that almost every disease is “invisible” to others. People can never fully understand what an illness means to someone suffering from it.

Ball-and-stick model of the cortisol (hydrocor...

Cortisol, Image via Wikipedia

Patients with Addison’s disease make no or too small amounts of cortisol, a hormone made by the adrenal cortex. Cortisol has a bad reputation as the stress hormone among many people. It doesn’t deserve this reputation as this hormone is vital to life. Corticosteroids are involved in a wide range of physiologic systems such as stress response, immune response and regulation of inflammation, carbohydrate metabolism, protein catabolism, blood electrolyte levels, and behavior (Wikipedia)

Too much of this hormone causes Cushing’s disease, too little causes Addison’s disease. If you want to know what Cushing does to your body and mind, then please read the letter of Kate when she was first diagnosed with Cushing’s, at Robin’s “Survive the Journey”.

Here, I will confine myself to Addison’s disease. It is a very good example of an invisible yet serious disease.

There are 3 forms of Addison: primary (defect in the adrenal cortex itself, often also leading to a defect in aldosteron production), secondary Addison (by a defect in the hypophysis or hypothalamus) and iatrogenic Addison (caused by overtreatment with corticosteroids)

Here some reasons why the illness, although “invisible”, can have great impact on your live.

1. Diagnosis.

Diagnosis is often a challenge, especially in patients with primary Addison, most of whom look healthy because of their pigmented skin. Nowadays, the main cause of primary Addison’s disease is immune destruction of the adrenal cortex. This has often a slow onset and in 50% of the patients the diagnosis takes more than 2, sometimes even more than 10 years [1]. 38% of the patients even experience vague complaints, that can later be attributed to Addison, during 11->30 years before diagnosis [1].

Before the diagnosis is made, people with Addison’s Disease often feel extremely tired and miserable. Even when the disease fully manifests itself the symptoms are largely vague and aspecific. The most common symptoms are fatigue, dizziness, muscle weakness, weight loss, difficulty in standing up, vomiting, anxiety, diarrhea, headache, sweating, changes in mood and personality, and joint and muscle pains. Often the symptoms aren’t taken seriously (enough) or the illness is mistaken for anorexia or depression.

My secondary Addison was the consequence of an injury to the pituitary gland as result of heavy blood loss during complicated childbirth (see previous post). The week between the cause and the diagnosis of the disease, was the most terrible week of my life. I felt awful, weak, (well I lost >3 liters of blood to start with), couldn’t give breast milk (no prolactin), and I disgusted food so much, you can’t imagine. I couldn’t get anything down my throat, only the look of it made me vomit. And I felt so bad not being able to care for the baby, but I just couldn’t. I couldn’t even stand for more then a few minutes, couldn’t walk.  And then there was unstoppable diarrhea, dizzyness, and speaking with double tongue. And practically no one took it seriously, not the gynaecologists, not the nurses, not the paediatricians, nor my friends or family.

But this was only one week. How would it have been if it durated 5 or 10 years?

2. Grieve and adaptation.

Once the disease is diagnosed you have to learn to live with a body that has let you down (grieve) and you have to learn to become confident again (adapt). You also have to find a new balance. I’ve lost a few hormones overnight (ACTH, cortisol, thyroid hormone, growth hormone, prolactin, gonadotrope hormones) and believe me, it took me a few years to feel reasonable normal again. It is quite surprising how badly I was informed. Very little information about the risk of an Addisonian crises, the dosing of cortisol under various conditions.
It was also confronting how little people wanted to know about the disease or what I had been through. Visitors after the birth wanted me to be euphoric and didn’t want me to go into any detail of what had happened. They cut me short by saying: “But you have a lovely baby”. Somebody cried that she didn’t want to hear it. So I stopped trying to speak about it.

I took no sick leave, immediately went back to work. My boss – a nephrologist, never asked after my health, not once.

As I said it took a few years before my “come-back”. I didn’t feel myself. It was as if I couldn’t think, as if my head was filled with cottonwool. Afterwards I think the main reason for improval was the reduction of the cortisol from 30 mg to 12.5 per day and the use of DHEAs plus that I regained confidence in myself.

3. Comorbidity

With cortisol I lost some other hormones which are also essential. Patients with primary Addison often miss aldosteron as well, which makes them more liable for an Addisonian crisis. Primary Addisonians may also have other immune diseases, like autoimmune thyroid disease, gonadal failure, type 1 diabetes and vitiligo.

4. Addisonian crisis

An addisonian crisis is an emergency situation, with possible fatal outcome, associated mainly with an acute deficiency of the glucocorticoid cortisol. This occurs in (extremely) stressful situations. Some Addisonpatients are more prone to it than others. You can -and should – take precautions, like wearing alert bracelets or necklaces, so that emergency personnel can identify adrenal insufficiency and provide stress doses of steroids in the event of trauma, surgery, or hospitalization.

Some Addisonians fear these crises so much that they dear not walk or run alone. Many Addison patients don’t go to a country far away, some don’t even pass the border (and you know the Netherlands aren’t that big).

5. Addison’s disease can be treated but not cured.

Addison patients are treated with corticosteroids like hydrocortisone and are substituted with other hormones that they may lack. Without treatment, the disease is lethal, with treatment the disease is not cured. I do feel all right now, but many of my fellow patients don’t. I think that the following excerpt from a Seminar of Wiebke Arlt and Bruno Allolio about adrenal insufficiency [2] makes this very clear.

Despite adequate glucocorticoid and mineralocorticoid replacement, health-related quality of life is greatly impaired in patients with primary and secondary adrenal insufficiency. Predominant complaints are fatigue, lack of energy, depression, and anxiety. In addition, affected women frequently complain about impaired libido. In a survey of 91 individuals, 50% of patients with primary adrenal insufficiency considered themselves unfit to work and 30% needed household help. In another survey of 88 individuals the number of patients who received disablility pensions was two to three times higher than in the general population. The adverse effect of chronic adrenal insufficiency on health-related quality of life is comparable to that of congestive heart failure. However, fine-tuning of glucocorticoid replacement leaves only a narrow margin for improvement, and changes in timing or dose do not result in improved wellbeing.


  1. Zelissen PM. Addison patients in the Netherlands: medical report of the survey. The Hague: Dutch Addison Society, 1994.
  2. Wiebke Arlt, Bruno Allolio. Adrenal Insufficiency, Lancet 2003; 361: 1881–93 , full text on

Earlier posts on the subject:

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