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Article

A novel mutation of the 5alpha-reductase type 2 gene in two unrelated Egyptian children with ambiguous genitalia.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Feb 2003

Mazen Inas, Hafez Mona, Mamdouh Mona, Sultan Charles, Lumbroso Serge

Abstract excerpt

OBJECTIVE: To establish an etiological diagnosis in two unrelated Egyptian children with ambiguous genitalia through biochemical and molecular analyses. PATIENTS AND METHODS: Two XY patients were referred: one at the age of 14 years presenting with delayed puberty and menarche and the second at the age of 4 months with ambiguous genitalia. Basal and post-HCG stimulation plasma levels of testosterone (T) and...

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Identifiers

PMID: 12713261
DOI: 10.1515/jpem.2003.16.2.219

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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