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

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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 17β-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
Publication statusPublished - May 1994

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Geissler, W. M., Davis, D. L., Wu, L., Bradshaw, K. D., Patel, S., Mendonca, B. B., ... Andersson, S. (1994). Male pseudohermaphroditism caused by mutations of testicular 17β-hydroxysteroid dehydrogenase 3. Nature Genetics, 7(1), 34-39.