Michael Waterman
Faculty Member
Last active: 2/12/2015

Genes involved in androgen biosynthesis and the male phenotype.

Waterman MR, Keeney DS
Horm Res. 1992 38 (5-6): 217-21

PMID: 1307739 · DOI:10.1159/000182546

A series of enzymatic steps in the testis lead to the conversion of cholesterol to the male sex steroid hormones, testosterone and 5 alpha-dihydrotestosterone. Mutations in any one of these steps are presumed to alter or block the development of the male phenotype. Most of the genes encoding the enzymes involved in this pathway have now been cloned, and mutations within the coding regions of these genes do, in fact, block development of the male phenotype.

MeSH Terms (11)

Aldehyde-Lyases Androgens Cholesterol Side-Chain Cleavage Enzyme Cytochrome P-450 Enzyme System Female Humans Male Mutation Phenotype Sex Differentiation Steroid 17-alpha-Hydroxylase

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