Thursday, December 06, 2012

RARE Video Project

Global Genes | RARE Project would like your voice to be heard!

Share your home videos!

We are currently looking for your home videos that illustrate what life is like for rare disease patients and caregivers on this complex and often emotional journey.  This could be an assortment of moments that you’ve captured on your phone, a camera, or a digital recording device.  We want the key moments, the most beautiful, personal moments that represent not only the diseases, but you and your child(ren) as well.

A few examples of what we are looking for in these clips:


In Pain





Hospital Visits





Important Events

At Play



Be creative, think outside the box.   Look for clips that are shot well, with nice light.  Give us variety!  Old footage, new footage, maybe even something your child has shot.  We want personal, private moments.  That is what will send the strongest message.

What are we going to do with this?

We are working with an award-winning filmmaking team to select submissions that will be compiled together to create a visual storyline of the years of your ongoing journey.  This is your chance to share the moments that you see and experience with a global audience.

This is your moment to be heard.

More information at

Thursday, December 06, 2012

Cushing Syndrome Overview

Cushing’s syndrome (pronounced KOOSH-ingz SIN-drohm) is a condition that occurs when a person’s body tissues are exposed over time to too much of the hormone cortisol (pronouncedKAWR-tuh-sawl). The syndrome can be caused by taking certain medicines or, less commonly, it can be caused by noncancerous or cancerous tumors. Cushing’s syndrome includes a range of symptoms, but they can be treated and, in most cases, the syndrome can be cured. The NICHD is one of the many federal agencies that support and conduct research on the causes of Cushing’s syndrome, detection of its symptoms as soon as possible, and development of improved treatments.

For more information about this topic, select the Condition Information, Research Information, Clinical Trials, or Resources and Publications link in the menu on the left.

Fast Facts

Common Name

  • Cushing's syndrome

Scientific Name

  • Hyperadrenocorticism (pronounced HAHY-per-uh-dree-noh-KAWR-ti-siz-uhm)
  • Hypercortisolism (pronounced HAHY-per-KAWR-ti-sol-iz-uhm)


The most common cause of Cushing’s syndrome is taking medication that contains the hormone cortisol. This leaves the body with more cortisol than it would normally contain from the natural production of cortisol.1 Less commonly, a cancerous or noncancerous tumor in the body can cause too much cortisol production.2

Number of People Affected

Among 1 million people, two or three will develop endogenous (non-medicine-related) Cushing’s syndrome each year in the United States.3 Women are three times more likely than men to have the condition.4

Common Symptoms

The symptoms of Cushing’s syndrome vary, especially in mild cases, but patients may have some or most of the following1:

  • Upper-body obesity, with thin arms and legs
  • A round, red face
  • Skin problems, such as acne, reddish-blue streaks, or easy bruising
  • Muscle and bone weakness, including backache
  • Fat that collects between the shoulders
  • Poor growth in children5

Common Treatments

In most cases Cushing’s syndrome can be cured. The treatment depends on what is causing the excess cortisol in the body.6,7

Cushing’s syndrome can be treated by the following:

  • Medication. If medication is to blame, a health care provider can reduce the dose or change the type of drug.
  • Overproduction. If the body is making too much cortisol because of a tumor, treatments may include oral medication, surgery, radiation, or a combination of these approaches.


  1. Stewart P. M., & Krone, N. P. (2011). The adrenal cortex. In Kronenberg, H. M., Shlomo, M., Polonsky, K. S., & Larsen, P. R. (Eds.). Williams textbook of endocrinology (12th ed.) (chap. 15). Philadelphia, PA: Saunders Elsevier. [top]
  2. Nieman, L. K., & Ilias, I. (2005) Evaluation and treatment of Cushing’s syndrome. Journal of American Medicine, 118(12), 1340-1346. PMID 16378774. [top]
  3. Lindholm, J., Juul, S., Jørgensen, J. O. L, Astrup, J., Bjerre, P., Feldt-Rasmussen, U., et al. (2001). Incidence and late prognosis of Cushing’s syndrome: A population-based study. Journal of Clinical Endocrinology and Metabolism, 86(1), 117-123. PMID 11231987[top]
  4. Steffensen, C., Bak, A. M., Rubeck, K. Z., & Jørgensen, J. O. (2010). Epidemiology of Cushing’s syndrome. Neuroendocrinology, 92(Suppl 1), 1-5. PMID 20829610[top]
  5. Batista, D. L., Riar, J., Keil, M., & Stratakis, C.A. (2007). Diagnostic tests for children who are referred for the investigation of Cushing syndrome. Pediatrics120(3), e575-e586. [top]
  6. Nieman, L. K., Biller, B. M. K., Findling, J. W., Newell-Price, J., Savage, M. O., et al. (2008). The diagnosis of Cushing’s syndrome: An Endocrine Society clinical practice guideline. Retrieved April 8, 2012, from (PDF - 510 KB). [top]
  7. Boscaro, M., & Arnaldi, G. (2009). Approach to the patient with possible Cushing’s syndrome. Journal of Clinical Endocrinology and Metabolism, 94(9), 3121. [top]


Last Updated Date: 11/30/2012
Last Reviewed Date: 11/30/2012