Hyperandrogenism due to cortisone reductase deficiency

Orpha code: 168588OMIM code: 614662

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

No additional description.

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