ESPE Abstracts (2015) 84 P-2-327

ESPE2015 Poster Category 2 DSD (25 abstracts)

A Novel Mutation of Anti-Mullerian Hormone Receptor Gene in a Male with Persistent Mullerian Duct Syndrome

Ghadir Elias-Assad a, , Marwan Elias c , Asher Pressman c & Yardena Tenenbaum-Rakover a,


aPediatric Endocrine Unit, Ha’Emek Medical Center, Afula, Israel; bThe Rappaport Faculty of Medicine, Technion, Haifa, Israel; cPediatric Surgery Department, Ha’Emek Medical Center, Afula, Israel

Background: Persistent Mullerian duct syndrome (PMDS) is a rare genetic disorder of internal male sexual development defined as a lack of regression of Mullerian derivatives in an otherwise normally virilized XY male. Approximately 85% of the cases are caused by mutations of the Anti-Mullerian hormone (AMH) or its’ receptor (AMHR-II) genes. In the current study, we report a novel homozygous mutation in the AMHR-II gene in a patient with PMDS and discuss the dilemma of the definitive treatment.

Case presentation: A 3- months-old healthy male infant with normal penile length and bilateral cryptorchidism was found to have uterus and fallopian tubes in the inguinal sac during an elective inguinal hernia repair surgery. He had 46, XY karyotype and normal serum levels of testosterone and gonadotropins for his age. High serum levels of AMH raised the possible diagnosis of AMHR gene mutation. Sequencing of the AMHR-II revealed a novel homozygous missense mutation, c.928C>T in exon 7 of the AMHR-II gene which cause a stop codon p.Q310X. This mutation results in a lack of most part of the intracellular serine/threonine kinase domain of the receptor. Following the genetic results, orchiopexy and partial Mullerian remnants resection was performed. There is no consensus regarding the surgical approach in patients with PMDS. Reports of Mullerian remnants malignancy and the known risk of testicular cancer in undescended testes encourage removal of the Mullerian remnants and bilateral orchiopexy. However, the excision of the Mullerian structures risks the blood supply to the testes and vas deferens, which may cause infertility and impair testicular function.

Conclusion: AMH serum levels can distinguish between AMH and AMHR gene mutations and may follow by molecular sequencing of either gene. The current report emphasise the clinical dilemma in the surgical approach in patients presented with PMDS.

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