Familial case of late diagnosis of Persistence of Müllerian derivatives syndrome type 1

Abstract

Persistent müllerian duct syndrome (PMDS) is a rare variant of the disorder of sex development (DSD) 46,XY characterized by the presence of Müllerian duct derivatives in 46,XY males. Since cryptorchidism is the only external manifestation of PMDS, until recently, PMDS was not diagnosed in patients and detection of Müllerian duct derivatives during the surgical treatment of cryptorchidism in patients with 46,XY karyotype was regarded as a variant of gonadal dysgenesis, leading to an erroneous choice of treatment strategy in these patients. Only the development of the molecular diagnostics methods, in particular, new generation sequencing, which enable simultaneous investigation of several candidate genes, provided accurate differential diagnosis of the PMDS. This article reports a clinical case of late diagnosis of the familial form of PMDS caused by mutation in the AMH gene. Detected persistent Müllerian derivatives in combination with agenesis of the testicle in the proband at an early age led to the diagnosis gonadal dysgenesis. Given the proven high risk of malignization of the gonads located outside the scrotum in patients with gonadal dysgenesis, the patient underwent removal of the only gonad located in the inguinal canal. The correct diagnosis was established after a comprehensive molecular genetic study using a new generation sequencing with the «disorders of sex development» panel. This study detected a homozygous mutation in the AMH gene.