Hyperandrogenism due to cortisone reductase deficiency

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Hyperandrogenism due to cortisone reductase deficiency

Synonyms: 11-beta-hydroxysteroid dehydrogenase deficiency type 1

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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