Male pseudohermaphroditism caused by mutations of testicular 17β–hydroxysteroid dehydrogenase 3

Wayne M. Geissler, Daphne L. Davis, Ling Wu, Karen D. Bradshaw, Sushma Patel, Berenice B. Mendonca, Keith O. Elliston, Jean D. Wilson, David W. Russell, Stefan Andersson

Research output: Contribution to journalArticlepeer-review

535 Scopus citations

Abstract

Defects in the conversion of androstenedione to testosterone in the fetal testes by the enzyme 17β–hydroxysteroid dehydrogenase (17β–HSD) give rise to genetic males with female external genitalia. We have used expression cloning to isolate cDNAs encoding a microsomal 17β–HSD type 3 isozyme that shares 23% sequence identity with other 1 7β–HSD enzymes, uses NADPH as a cofactor, and is expressed predominantly in the testes. The 17βHSD3 gene on chromosome 9q22 contains 11 exons. Four substitution and two splice junction mutations were identified in the 17βHSD3 genes of five unrelated male pseudohermaphrodites. The substitution mutations severely compromised the activity of the 17β–HSD type 3 isozyme.

Original languageEnglish (US)
Pages (from-to)34-39
Number of pages6
JournalNature genetics
Volume7
Issue number1
DOIs
StatePublished - May 1994

ASJC Scopus subject areas

  • Genetics

Fingerprint

Dive into the research topics of 'Male pseudohermaphroditism caused by mutations of testicular 17β–hydroxysteroid dehydrogenase 3'. Together they form a unique fingerprint.

Cite this