Acromegaly

Acromegaly, or Pierre Marie’s disease as it is sometimes called (after the first doctor to accurately describe the symptoms), is a hormonal disorder characterized by abnormal bone growth, enlarged hands and feet, and thickened, enlarged face. Learn more about this rare endocrine disease, its diagnosis and the different treatment options available.

 
Acromegaly is a hormonal disorder that is most often diagnosed late. This diagnosis difficulty is due to the gradual appearance of symptoms and physical changes that creep in insidiously over a long period. Sometimes the person seeks medical advice for the back (rachalgia) or joint (arthralgia) pain. Diagnosis can be more than 10 years after the first symptoms appeared.

The following tests confirm a diagnosis of acromegaly:

  • A blood test to confirm elevated insulin-like growth factor-1 (IGF-1) is considered the gold standard indicator of clinical activity of acromegaly.
  • Growth hormone suppression test with glucose to artificially increase the level of glucose in the blood (by drinking a sugary drink) and measuring GH levels. In health individuals, the increased blood sugar depresses growth hormone levels, while in acromegaly growth hormone depression will be absent and the GH level will remain constant.
  • Scan or magnetic resonance imaging (MRI) to pinpoint the pituitary tumor.

3 to 4

New cases of acromegaly per year per million population.

40 years

Average age of diagnosis

Growth hormone deficiency

Growth hormone deficiency is often caused by a disorder in the hypothalamus or the pituitary gland and produces a number of negative consequences for both children and adults, including delayed growth and metabolic disorders, etc. Learn more about the condition, its diagnosis and the different treatment options available.

Precocious puberty

Precocious puberty refers to the appearance of secondary sexual characteristics before age 7 or 8 in girls and before age 9 in boys, without treatment. Paradoxically, it leads to large stature in childhood, but short stature in adulthood. Learn more about the condition, its diagnosis and the different treatment options available.

Severe primary IGF-1 deficiency

Severe primary IGF-1 (insulin-like growth factor 1, a protein that mediates the effects of growth hormone) deficiency causes delayed growth in children and adolescents, as well as a range of anatomical, morphological and physiological disorders. Learn more about the condition, its diagnosis and the different treatment options available.

Turner syndrome

A condition that affects only girls and women, Turner syndrome is caused by the total or partial absence of one of the two X chromosomes. It causes short stature, infertility and a number of other problems. Learn more about the condition, its diagnosis and the different treatment options available.
Sources :

Fédération d’endocrinologie du Pôle Est. Website: http://federation-endocrino-poleest.univ-lyon1.fr/webapp/website/website.html?id=3300926&pageId=220550
Philippe Chanson. Acromégalie. Presse Med. 2009, 38: 92-102. http://www.em-consulte.com/showarticlefile/197873/main.pdf
Last update 13/04/2017