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 journalArticle

472 Citations (Scopus)

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
StatePublished - May 1994

Fingerprint

XY Disorders of Sex Development 46
Mutation
Isoenzymes
Testis
Female Genitalia
Androstenedione
Enzymes
NADP
Genes
Testosterone
Organism Cloning
Exons
Complementary DNA
Chromosomes
3(17)-hydroxysteroid dehydrogenase

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.

Male pseudohermaphroditism caused by mutations of testicular 17β-hydroxysteroid dehydrogenase 3. / Geissler, Wayne M.; Davis, Daphne L.; Wu, Ling; Bradshaw, Karen D.; Patel, Sushma; Mendonca, Berenice B.; Elliston, Keith O.; Wilson, Jean D.; Russell, David W.; Andersson, Stefan.

In: Nature Genetics, Vol. 7, No. 1, 05.1994, p. 34-39.

Research output: Contribution to journalArticle

Geissler, WM, Davis, DL, Wu, L, Bradshaw, KD, Patel, S, Mendonca, BB, Elliston, KO, Wilson, JD, Russell, DW & Andersson, S 1994, 'Male pseudohermaphroditism caused by mutations of testicular 17β-hydroxysteroid dehydrogenase 3', Nature Genetics, vol. 7, no. 1, pp. 34-39.
Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB et al. Male pseudohermaphroditism caused by mutations of testicular 17β-hydroxysteroid dehydrogenase 3. Nature Genetics. 1994 May;7(1):34-39.
Geissler, Wayne M. ; Davis, Daphne L. ; Wu, Ling ; Bradshaw, Karen D. ; Patel, Sushma ; Mendonca, Berenice B. ; Elliston, Keith O. ; Wilson, Jean D. ; Russell, David W. ; Andersson, Stefan. / Male pseudohermaphroditism caused by mutations of testicular 17β-hydroxysteroid dehydrogenase 3. In: Nature Genetics. 1994 ; Vol. 7, No. 1. pp. 34-39.
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