A novel mutation in the AMHR2 gene, resulting in persistent Müllerian duct syndrome presenting with bilateral cryptorchidism and obstructed inguinal hernia

Anatoli Fotiadou; Orthodoxos Achilleos; Jean-Yves Picard; Zoe Lamprinou; Alexandros Passalides; Elpis-Athina Vlachopapadopoulou

doi:10.1515/jpem-2023-0245

Article

A novel mutation in the AMHR2 gene, resulting in persistent Müllerian duct syndrome presenting with bilateral cryptorchidism and obstructed inguinal hernia

Anatoli Fotiadou , Orthodoxos Achilleos , Jean-Yves Picard , Zoe Lamprinou , Alexandros Passalides and Elpis-Athina Vlachopapadopoulou

Published/Copyright: July 24, 2023

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 36 Issue 9

Abstract

Objectives

To highlight important clinical aspects of Persistent Müllerian duct syndrome (PMDS). PMDS belongs to the group of differences of sex development. It is attributed to mutations in genes encoding for the anti-Müllerian hormone or its type II receptor (AMHR2) and inherited via an autosomal recessive transmission.

Case presentation

An 18-day-old male infant with known bilateral cryptorchidism, presented with left-sided obstructed inguinal hernia. The diagnosis of PMDS was considered during inguinal exploration as both testes together with uterus and fallopian tubes were recognized in the hernial sac. Histology confirmed the presence of Müllerian-derived tissues. Genetic testing revealed two different mutations of the AMHR2 gene, both with autosomal recessive transmission: a frequently encountered deletion of 27 pairs bases on exon 10 of this 11 exon gene and a novel deletion of 2 pairs bases on exon 6.

Conclusions

This case is notable being the rarest type of PMDS, that of transverse testicular ectopia and associated with a novel AMHR2 gene mutation.

Keywords: anti-Müllerian hormone (AMH); persistent Müllerian duct syndrome (PMDS); transverse testicular ectopia (TTE)

Corresponding author: Elpis-Athina Vlachopapadopoulou, Endocrinology – Growth and Development Department, “P. & A. Kyriakou” Children’s Hospital, Thivon & Levadias 2 Street, Athens, Attiki, 11527, Greece, Phone: +30 2132009851, E-mail: elpis.vl@gmail.com

Acknowledgments

We would like to thank the patient’s family for their cooperation in allowing us to use their information and pictures for this case report.

Research funding: None declared.
Author contributions: AF collected the clinical and laboratory data and drafted the manuscript. OA, ZL and AP were the lead surgeons of the patient and provided relevant imaging. JYP performed genetic analysis of the patient. EV was the lead consultant in this case and coordinated all of the above. All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Written informed consent was obtained from the parents of the patient for publication of the details of their medical case and any accompanying images.
Ethical approval: Not applicable.

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Received: 2023-05-23

Accepted: 2023-06-06

Published Online: 2023-07-24

Published in Print: 2023-09-26

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Articles in the same Issue

https://doi.org/10.1515/jpem-2023-0245

Keywords for this article

anti-Müllerian hormone (AMH); persistent Müllerian duct syndrome (PMDS); transverse testicular ectopia (TTE)