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.

 
Drug treatments can correct delayed growth and ovarian abnormalities:

  • human growth hormone analogs (somatropine) to increase growth rate. Growth hormone treatment is given in the form of an injectable solution and is prescribed by a specialist when not counter-indicated. It is administered up to a bone age of 14 (confirmed by x-ray);
  • hormone replacement therapy, first with estrogen and then with progesterone, to replace the hormones normally produced by the ovaries. Treatment must be started at puberty and continued even after menopause to mitigate the risk of osteoporosis.

Because of the many symptoms associated with Turner syndrome, patients are usually looked after by a multidisciplinary team that includes a pediatrician and/or GP, endocrinologist and gynecologist.
Surgery is also a possibility if the patient has operable heart or kidney complications.

About 1 in 2,500

Affects one infant girl in 2,500

8 to 10

Generally diagnosed late

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.

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.
Last update 13/04/2017