Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia. Disease data Classification Malformation syndrome Synonyms 11-beta-hydroxysteroid dehydrogenase deficiency type 1 Niedobór dehydrogenazy 11-beta-hydroksysteroidowej typu 1 ORPHA code 168588 OMIM code 614662 ICD10 code E25.8 ICD11 code 5A71.Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl