Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.

doi:10.1210/jcem.74.3.1740503

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Article

Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.

The Journal of clinical endocrinology and metabolism - 1 Mar 1992

Ahlgren R, Yanase T, Simpson E R, Winter J S, Waterman M R

Abstract excerpt

17 alpha-Hydroxylase deficiency is characterized by defects in either or both the 17 alpha-hydroxylase/17,20-lyase activities. We have, for the first time, elucidated the molecular basis of the deficiency in a male pseudohermaphrodite with ambiguous external genitalia resulting from partial combined deficiency of both activities. The patient is found to be a compound heterozygote, carrying two different inherited...

Topics

Adrenal Hyperplasia, Congenital
Aldehyde-Lyases
Alleles
Amino Acid Sequence
Animals
Arginine
Base Sequence
Blotting, Southern
Cell Line
Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Cytochrome P-450 Enzyme System

DNA

Disorders of Sex Development

Heterozygote

Humans

Leukocytes

Male

Molecular Sequence Data

Source

Open in PubMed

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PMID: 1740503
DOI: 10.1210/jcem.74.3.1740503

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1740503-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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