Persistent Müllerian duct syndrome: an update
Jean-Yves Picard A B C and Nathalie Josso A B
+ Author Affiliations
- Author Affiliations
A INSERM UMRS 938, Centre de Recherche Saint Antoine, 27, rue Chaligny, 75571 Paris Cedex 12, France.
B Faculté de Médecine Sorbonne Université, 27, rue Chaligny, 75571 Paris Cedex 12, France.
C Corresponding author. Email: jean-yves.picard@u-psud.fr
Reproduction, Fertility and Development 31(7) 1240-1245 https://doi.org/10.1071/RD17501
Submitted: 28 November 2017 Accepted: 6 December 2018 Published: 17 January 2019
Abstract
Male sex differentiation is driven by two hormones, testosterone and anti-Müllerian hormone (AMH), responsible for regression of Müllerian ducts in male fetuses. Mutations inactivating AMH or AMH receptor type 2 (AMHR2) are responsible for persistent Müllerian duct syndrome (PMDS) in otherwise normally virilised 46,XY males. This review is based on published cases, including 157 personal ones. PMDS can present in one of three ways: bilateral cryptorchidism, unilateral cryptorchidism with contralateral hernia and transverse testicular ectopia. Abnormalities of male excretory ducts are frequent. Testicular malignant degeneration occurs in 33% of adults with PMDS. Cancer of Müllerian derivatives is less frequent. Fertility is rare but possible if at least one testis is scrotal and its excretory ducts are intact. Up to January 2019, 81 families with 65 different mutations of the AMH gene, mostly in exons 1, 2 and 5, have been identified. AMHR2 gene mutations comprising 64 different alleles have been discovered in 79 families. The most common mutation, a 27-bp deletion in the kinase domain, was found in 30 patients of mostly Northern European origin. In 12% of cases, no mutation of AMH or AMHR2 has been detected, suggesting a disruption of other pathways involved in Müllerian regression.
Additional keywords: AMH, AMHR2, anti-Müllerian hormone, cryptorchidism, disorders of sex differentiation (DSD), fertility, hormone receptor, mutation.
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