...; Gabriela Guercio Background: Persistent müllerian duct syndrome (PMDS) is characterized by the persistence of müllerian duct derivatives in otherwise normally virilized 46,XY males. Biallelic mutations of the anti-müllerian hormone ( AMH ) and AMH receptor type 2 ( AMHR2 ) genes lead to PMDS type 1 and 2...

..., consists of 11 exons, and is 7,817 bp long. Defects in the AMH pathway are the underlying etiology of a subgroup of disorders of sex development (DSD) in 46,XY patients. The condition is known as the persistent müllerian duct syndrome (PMDS), characterized by the existence of a uterus and fallopian tubes...

...Evgenia Globa; Nataliya Zelinska; Nina Siryk; Anu Bashamboo; Kenneth McElreavey Persistent Müllerian duct syndrome (PMDS) is a rare autosomal recessive disorder characterized by the lack of regression of the derivatives of the Müllerian ducts in males. Boys with this condition usually present...

...Mónica Fernández-Cancio; Naveen Viswanath; Ramakrishnan Puzhankara; Praveen Valiyaprambil Pavithran; Cristina Mora-Palma; Núria Camats; Laura Audí; Sara Benito-Sanz Persistent müllerian duct syndrome (PMDS) is characterized by the presence of müllerian duct derivatives in otherwise phenotypically...

..., instructions or products referred to in the content or advertisements. AMH AMHR2 Cryptorchidism Novel mutations Persistent müllerian duct syndrome Egypt Persistent müllerian duct syndrome (PMDS) is a relatively rare inherited defect of sexual differentiation characterized by failure...

...Y.G. van der Zwan; H.T. Brüggenwirth; S.L.S. Drop; K.P. Wolffenbuttel; G.C. Madern; L.H.J. Looijenga; J.A. Visser Persistent Müllerian duct syndrome (PMDS) is characterized by the presence of a uterus, fallopian tubes, and the upper part of the vagina in phenotypic normal male patients. Here, we...

... children, i.e. persistent müllerian duct syndrome (PMDS). Both conditions are transmitted according to an autosomal recessive pattern and are symptomatic only in males. We report on 2 unrelated Egyptian consanguineous families with PMDS. The first family comprised 3 affected prepubertal sibs complaining...

...S. Pujar; V.N. Meyers-Wallen In persistent Müllerian duct syndrome (PMDS), Müllerian ducts fail to regress in males during sexual differentiation. In the canine miniature schnauzer model, PMDS is caused by a C to T transition in exon 3 of the Müllerian inhibiting substance type II receptor (MISRII...