Cushing syndrome is characterised by a "moon" face, obesity of the trunk allied to muscular wastage of the limbs, Diabetes, Osteoporosis see Osteoporosis (Adult) (fragility of the bones), hypertension (blood pressure), polycythaemia (an abnormal increase in circulating red cells in the blood), bruising and amenorrhoea (cessation of periods in girls and women). All characteristics may not be present in every case. The differential diagnosis may be difficult to elucidate and such patients may require intensive investigations for several weeks.

Cushing syndrome is due to the effect of overproduction by the adrenal glands (small glands that sit on top of the kidneys). It is mostly commonly caused by hyperstimulation of the adrenal glands by a hormone called ACTH released by benign tumours of the pituitary gland (a pea size gland at the base of the brain) or rarely by tumours (ectopic ACTH syndrome) elsewhere in the body, such as the lungs or pancreas. Cushing syndrome caused by a pituitary tumour is called Cushing disease. Cushing syndrome can also be caused by tumours of the adrenal glands that can be benign or malignant.

Generally, young children have an adrenal tumour, whereas in adolescents this is usually a pituitary tumour.

However, a common cause of the syndrome is iatrogenic (the result of treatment), due to prolonged therapy with steroids prescribed for other disorders such as asthma.

The condition may arise at any age but most typically occurs in middle age and is more common in women.

Treatment is predominantly surgical and directed at the site of the tumour.

Inheritance patterns
None

Prenatal diagnosis
None

Medical text written September 2006 by Dr Peter Traine, Consultant Endocrinologist, Christie Hospital, Manchester, UK.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

Before treatment..........9 months later

ACTH

ACTH
54 Powney Road
Maidenhead
SL6 6EQ
Tel: 01628 670389
e-mail: cushingsacth@btinternet.com
Web: http://www.cushingsacth.co.uk

ACTH is a patient led and patient run self help support group, established in 1993. It offers telephone and e-mail support and an information pack. ACTH has the support of a medical panel.

Group details last confirmed June 2007.