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

doi:10.3390/genes13010159

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Article

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

Genes - 17 Jan 2022

Liu Yang, Wang Sida, Lan Ruzhu, Yang Jun

Abstract excerpt

Persistent Müllerian duct syndrome (PMDS) is a rare autosomal recessive disorder of sexual development in males, defined by the presence of Müllerian remnants with otherwise normal sexual differentiation. Mutations in anti-Müllerian hormone (AMH) and AMH receptor type 2 (AMHR2) genes are the main causes of PMDS. In this study, we performed molecular genetic analysis of 11 unrelated cryptorchidism patients using...

Topics

Adult
Anti-Mullerian Hormone
Disorder of Sex Development, 46,XY
Exons
Genetic Testing
Humans
Infertility, Male
Male
Mutation
Receptors, Peptide
Receptors, Transforming Growth Factor beta

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PMID: 35052499
DOI: 10.3390/genes13010159
PMCID: PMC8774887

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