Adrenogenital syndrome

Adrenogenital syndrome (syndromum adrenogenitale) is an endocrine disease caused by congenital dysfunction of the adrenal cortex, leading to impaired cortisol synthesis and overproduction of androgens. It is characterized by premature sexual development and virilization in girls, as well as disorders of salt metabolism.

Synonyms: Apert-Halle syndrome, virilizing dysfunction of the adrenal cortex, Crook-Apert-Halle syndrome.

The disease is caused by mutations in the genes encoding enzymes for cortisol synthesis in the adrenal cortex. This leads to decreased cortisol production and excess androgen production. In girls, virilization of the external genitalia and premature appearance of secondary sexual characteristics are observed. In boys, it manifests itself through accelerated puberty. Disturbances in water-salt metabolism are also noted.

Diagnosis is based on analysis of the clinical picture, hormonal profile and molecular genetic research. Treatment includes glucocorticoid replacement therapy and surgical correction of abnormalities in the development of the external genitalia. With timely diagnosis and adequate treatment, the prognosis is favorable.