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Article

Persistence of Müllerian derivatives in males.

American journal of medical genetics - 29 Dec 1999

Belville C, Josso N, Picard J Y

Abstract excerpt

The persistent müllerian duct syndrome is a rare, autosomal recessive disorder, characterized by the persistence of müllerian duct derivatives-uterus and fallopian tubes-in genetic males otherwise normally virilized. We have collected DNA from 69 families with this syndrome. In 45%, a mutation of the anti-müllerian hormone (AMH) gene was detected; 52% were homozygous. The level of circulating AMH was extremely...

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Source

Identifiers

PMID: 10727997
DOI: 10.1002/(sici)1096-8628(19991229)89:4<218::aid-ajmg6>3.0.co;2-e

Genes

AMH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The persistent müllerian duct syndrome: a rare cause of cryptorchidism.Semantic proximity Read ↗

Identification of AMH and AMHR2 Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases.Semantic proximity Read ↗

Variants of the anti-Müllerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family.Semantic proximity Read ↗

The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases.Semantic proximity Read ↗

A Novel Mutation of AMHR2 in Two Siblings with Persistent Müllerian Duct SyndromeSemantic proximity Read ↗

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