Female pseudohermaphroditism associated with a novel homozygous G-to-A (V370-to-M) substitution in the P-450 aromatase gene.

doi:10.1515/jpem.1998.11.5.657

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Article

Female pseudohermaphroditism associated with a novel homozygous G-to-A (V370-to-M) substitution in the P-450 aromatase gene.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000

Ludwig M, Beck A, Wickert L, Bolkenius U, Tittel B, Hinkel K, Bidlingmaier F

Abstract excerpt

The conversion of C19 androgens to their corresponding C18 estrogens is catalyzed by an enzyme complex known as aromatase. P-450 aromatase is expressed in a tissue-specific manner and placental deficiency abolishes its function in protecting the female fetus from masculinization and the mother fr...

Topics

Aromatase
Base Sequence
Consanguinity
Disorders of Sex Development
Female
Homozygote
Humans
Infant
Methionine
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
Sequence Analysis, DNA
Valine

Source

Open in PubMed

Identifiers

PMID: 9829218
DOI: 10.1515/jpem.1998.11.5.657

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9829218-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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