Molecular analysis of AMH and AMHR2 genes in four cases of persistent mullerian duct syndrome (PMDS)

Sana Kmiha; Rhouma Bochra Ben; Yassmine Mkhinini; Rim Belhadj; Hajer Aloulou; Hassen Kammoun; Leila Keskes; Thouraya Kammoun

doi:10.1530/endoabs.110.EP1409

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Endocrine Abstracts (2025) 110 EP1409 | DOI: 10.1530/endoabs.110.EP1409

ECEESPE2025 ePoster Presentations Reproductive and Developmental Endocrinology (128 abstracts)

Molecular analysis of AMH and AMHR2 genes in four cases of persistent müllerian duct syndrome (PMDS)

Sana Kmiha ^1,2 , Bochra Ben Rhouma ² , Yassmine Mkhinini ¹ , Rim Belhadj ¹ , Hajer Aloulou ¹ , Hassen Kammoun ³ , Leila Keskes ² & Thouraya Kammoun ¹

Author affiliations

¹Hedi Chaker University Hospital, Department of Pediatrics A, Sfax, Tunisia; ²Faculty of Medicine of Sfax, University of Sfax, Laboratory of Human Molecular Genetics, Sfax, Tunisia; ³Hedi Chaker University Hospital, Genetic department, Sfax, Tunisia.

JOINT3992

Introduction: Persistent Müllerian Duct Syndrome (PMDS) is a form of 46,XY disorder of sex development (DSD) characterized by the presence of Müllerian derivatives (uterus, fallopian tubes) in individuals with a 46,XY karyotype. It can result from mutations in the AMH gene, responsible for Müllerian duct regression, or the AMHR2 gene, encoding its receptor.

Methods: The mixed retrospective-prospective study included 46,XY DSD children with PMDS, followed at CHU Hédi Chaker in Sfax between 2008 and 2022. The clinical evaluation involved a review of medical history, hormonal assessment, and imaging of internal genital organs. Genetic analysis focused on the AMH and AMHR2 genes, with DNA extraction, PCR amplification, Sanger sequencing and next generation sequencing.

Results: We studied four children with genital development anomalies in whom ultrasound or surgical examination revealed the presence of Müllerian structures. All patients had a 46,XY karyotype. In two patients, specific mutations in the AMH and AMHR2 genes were found, confirming the diagnosis of PMDS. In a third patient, no mutations were detected, suggesting the possibility of an alteration in an unexplored region of the studied genes. In the fourth patient, genetic variations were also found, requiring further functional studies.

Conclusion: This study highlights the genetic diversity of PMDS and underscores the need for additional analyses to better understand the molecular mechanisms involved. We plan to further investigate the functional impact of the identified variants and expand our cohort to better characterize mutations within our population.