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Article

Variable expression of 5 alpha-reductase deficiency: presentation with male phenotype in a child of Greek origin.

The Journal of clinical endocrinology and metabolism - 1 Aug 1990

Carpenter T O, Imperato-McGinley J, Boulware S D, Weiss R M, Shackleton C, Griffin J E, Wilson J D

Abstract excerpt

A male infant with perineal hypospadias and a small phallus bound in chordee is described. Biochemical investigation at age 9 months after hCG stimulation revealed a testosterone to dihydrotestosterone (DHT) ratio of 40, a markedly elevated value suggestive of deficient steroid 5 alpha-reductase activity. The diagnosis of 5 alpha-reductase deficiency was confirmed by elevated urinary 5 beta/5 alpha-steroid...

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PMID: 2143199
DOI: 10.1210/jcem-71-2-318

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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