Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.

doi:10.1038/ng0594-34

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Article

Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.

Nature genetics - 1 May 1994

Geissler W M, Davis D L, Wu L, Bradshaw K D, Patel S, Mendonca B B, Elliston K O, Wilson J D, Russell D W, Andersson S

Abstract excerpt

Defects in the conversion of androstenedione to testosterone in the fetal testes by the enzyme 17 beta-hydroxysteroid dehydrogenase (17 beta-HSD) give rise to genetic males with female external genitalia. We have used expression cloning to isolate cDNAs encoding a microsomal 17 beta-HSD type 3 is...

Topics

17-Hydroxysteroid Dehydrogenases
Adolescent
Amino Acid Sequence
Androstenedione
Base Sequence
Chromosomes, Human, Pair 9
Cloning, Molecular
DNA, Complementary
Disorders of Sex Development
Humans
Isoenzymes
Male
Molecular Sequence Data
Mutagenesis, Site-Directed

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Open in PubMed

Identifiers

PMID: 8075637
DOI: 10.1038/ng0594-34

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8075637-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Organ Specificity

Phenotype

Point Mutation

Sequence Alignment