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Article

A Novel Mutation of AMHR2 in Two Siblings with Persistent Müllerian Duct Syndrome

Journal of clinical research in pediatric endocrinology - 29 Nov 2018

Unal Edip, Yıldırım Ruken, Tekin Suat, Demir Vasfiye, Onay Hüseyin, Haspolat Yusuf Kenan

Abstract excerpt

Persistent Müllerian Duct syndrome (PMDS) develops due to deficiency of anti-Müllerian hormone (AMH) or insensitivity of target organs to AMH in individuals with 46,XY karyotype. PMDS is characterized by normal male phenotype of external genitals, associated with persistence of Müllerian structures. This report includes the presentation of a 2.5 year old male patient due to bilateral undescended testis. His...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29687786
DOI: 10.4274/jcrpe.0013
PMCID: PMC6280330

Genes

AMH
AMHR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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A Novel Mutation of AMHR2 in Two Siblings with Persistent Müllerian Duct SyndromePMID 29687786Read ↗

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A Novel Mutation of AMHR2 In Two Siblings with Persistent Müllerian Duct Syndrome.Semantic proximity Read ↗

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

Persistent Mï¿½llerian duct syndrome: A case report and reviewSemantic proximity Read ↗

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

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