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Article

Molecular genetics of the persistent müllerian duct syndrome: a study of 19 families.

Human molecular genetics - 1 Jan 1994

Imbeaud S, Carré-Eusèbe D, Rey R, Belville C, Josso N, Picard J Y

Abstract excerpt

A rare form of familial male pseudohermaphroditism, the persistent Müllerian duct syndrome (PMDS) is characterized by persistence of uterus and Fallopian tubes in 46,XY phenotypic males and is ascribed to defects in the synthesis or action of anti-Müllerian hormone (AMH). Biologically, PMDS is heterogeneous: in some cases, bioactive AMH is normally expressed by testicular tissue while, in others, no AMH is...

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Identifiers

PMID: 8162013
DOI: 10.1093/hmg/3.1.125

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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Molecular genetics of the persistent müllerian duct syndrome: a study of 19 families.PMID 8162013Read ↗

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

Persistence of Müllerian derivatives in males.Semantic proximity Read ↗

AMH and AMH receptor defects in persistent Müllerian duct syndromeSemantic proximity Read ↗

Persistent Müllerian duct syndrome: an update.Semantic proximity Read ↗

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