Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0042755 (masculinization)
2,562 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A black adult subject, exhibiting complete virilization at puberty with psychological female orientation, was investigated. An older sister had similar physical habitus. Hormonal data showed an androstenedione/testosterone ratio greater than 1. This led us to the diagnosis of 17-ketoreductase deficiency, with possible genetic transmission of the defect.
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PMID:Male pseudohermaphroditism due to 17-ketoreductase deficiency: report of a case without gynecomastia and without vaginal pouch. 300 17