Adrenal hyperplasia

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Adrenal hyperplasia, or CAH, is a rare, genetic and congenital disorder. Hyperplasia is the abnormal growth of cells that are identical to those of normal tissues or organs. The adrenal glands are located above the kidneys, and help with the synthesis of several molecules. Adrenal hyperplasia is caused by a deficiency of a molecule necessary for the synthesis of glucocorticoids secreted by the adrenal gland. In response to a deficiency of cortisol, the pituitary gland secretes the hormone, ACTH, in large quantities, which in turn causes hyperplasia. The adrenal gland secretes in response to many male hormones, androgens.


Adrenal hyperplasia occurs in the following manners:
  • "virilization" of girls during embryonic life;
  • genital ambiguity at birth;
  • abnormalities in the external genitalia;
  • in boys, penile enlargement with testicular atrophy;
  • precocious puberty;
  • high blood pressure;
  • fertility problems in adulthood;
  • overweightness;
  • bone demineralization.


The diagnosis of congenital adrenal hyperplasia is now made routinely by examining, at 5 days of age, the hormone 17 OH progesterone.


Treatment of adrenal hyperplasia is a hydrocortisone replacement therapy for life. It compensates for the lack of hormone. For girls, a treatment to fight against androgen is used.

The occurrence of congenital adrenal hyperplasia cannot be anticipated, but can be diagnosed at birth in a systematic way to enable the earliest possible care (treatment with 17 OH progesterone). In addition, prenatal diagnosis is offered to parents who already have an affected child or have a carrier gene mutation, with the aim of starting a treatment in utero.