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Article

[Severe 46,XY virilization deficit due to 17beta-hydroxysteroid dehydrogenase deficiency].

Klinische Padiatrie - 1 Jan 2000

Twesten W, Johannisson R, Holterhus P-M, Hiort O

Abstract excerpt

BACKGROUND: 17beta hydroxysteroid dehydrogenase deficiency is a presumable rare cause for a severe virilization disorder in children with 46,XY karyotype due to a defect in the testicular testosterone biosynthesis from androstenedione. PATIENT: We report on a 14 year old child with 46,XY karyotype with a predominantly female phenotype. RESULTS: Hormonal analysis showed low values for androstenedione and...

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Source

Identifiers

PMID: 12235550
DOI: 10.1055/s-2002-34015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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