Tuesday, October 20, 2009

8 new Cushing's bios added. dx include 1 pituitary, 1 diagnosed not sure of type, 6 undiagnosed at http://ow.ly/vt0D or http://ow.ly/vt1n

Monday, October 19, 2009

M√ľnchausen By Media - what do you think? http://ow.ly/vgEn

Monday, October 19, 2009

Cushing's locations page updated, 9 new people added from England, USA. http://ow.ly/vgop

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: kgwhite@addisons.org.uk


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.

From http://www.eje.org/cgi/content/abstract/EJE-09-0559v1

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: walter.bonfig@med.uni-muenchen.de.

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.

From http://jcem.endojournals.org/cgi/content/abstract/94/10/3882

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: http://www.cushie.info/blog/

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 - http://survivethejourney.blogspot.com/

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.


From http://www.ejinme.com/article/PIIS0953620509001599/abstract?rss=yes

Saturday, October 10, 2009

Sam and Jackie Cushing's episode on Mystery Diagnosis now available on amazon only 1.99! http://ow.ly/tKDQ

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 http://HealingOurWorld.net/. [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 http://www.healthreform.biz

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 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=paragangliomas.


From http://www.endocrinetoday.com/comments.aspx?rid=44434

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 http://ow.ly/tnWb OR http://ping.fm/mv5E0

Thursday, October 08, 2009

Cushing's locations page updated, 4 new people added from England, US. http://ow.ly/tnVr

Monday, October 05, 2009

3 new and updated Cushing's bios added. dx include 1 adrenal, 2 undiagnosed
http://ping.fm/LeAXS OR http://ow.ly/sLc4

Monday, October 05, 2009

Cushing's locations page updated, 3 new people added from Canada, Japan, US. http://ow.ly/sKRO

Friday, October 02, 2009

NIH Research Festival http://ping.fm/yXPTU

Thursday, October 01, 2009

3 new and updated Cushing's bios added. dx include 1 pituitary, 2 undiagnosed http://ow.ly/saud or http://ow.ly/saux

Thursday, October 01, 2009

Cushing's locations page updated, 4 new people added. http://ow.ly/satd