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Article

Novel mutation among two sisters with 17β hydroxysteroid dehydrogenase type 3 deficiency.

Urology - 1 May 2013

Massanyi Eric Z, Gearhart John P, Kolp Lisa A, Migeon Claude J

Abstract excerpt

The clinical presentations of 17β hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency, 5α-reductase type 2 deficiency, and complete androgen insensitivity syndrome can be similar. However, those with 17β-HSD3 deficiency and 5α-reductase type 2 deficiency will develop virilization and should undergo gonadectomy after genetic testing before the age of puberty if reared in the female sex. Two sisters were...

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Identifiers

PMID: 23375913
DOI: 10.1016/j.urology.2012.12.024

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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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