Гіперандрогенія внаслідок дефіциту кортизонредуктази
ORPHA:168588· ICD-10 E25.8· Hyperandrogenism due to cortisone reductase deficiency
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant, Autosomal recessive
- Вік початку
- Antenatal, Infancy, Neonatal