Re: Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management

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Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management

MAIN FINDINGS A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinar team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus r...

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Re: Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management

We would like to make some comments about the article “Persistent mullerian duct syndrome: a rare entity with a rare presentation in need of multidisciplinary management” (1). The authors report a DSD case diagnosed as PMDS and review some clinical aspects of this exceedingly rare syndrome, but some unclear aspects are notable. The patient described seems to be a case of ambiguous genitalia (pr...

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REPLY BY THE AUTHORS: Re: Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management

Dr. de Jesus in his elegant commentary on our recent published article in the Int Braz J Urol (1) dwelled on the diagnosis challenges about patients with disorders of sexual differentiation (DSD) (2). Indeed, we appreciate and agree with his comments that given the rarity of this condition the differential diagnosis between Persistent Mullerian Duct Syndrome (PMDS) and other DSD, including mixe...

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Persistent Mullerian duct syndrome with transverse testicular ectopia: rare presentation of inguinal hernia.

INTRODUCTION Persistent Mullerian duct syndrome (PMDS) is a rare type of pseudohermaphroditism in genotypically and phenotypically males. They have a uterus, fallopian tubes, and upper part of the vagina; but Mullerian duct fails to regress. In transverse testicular ectopia (TTE), one of the testis moves to the opposite side and both testes pass the same inguinal canal. We report a case of PMDS...

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Bilateral Cryptorchidism, a rare presentation for persistent Müllerian duct syndrome

Persistent Müllerian duct syndrome (PMDS) is a rare, sex-limited, autosomal recessive disorder representing male pseudo-hermaphroditism. It is observed in males with the presence of female reproductive organs such as the uterus, cervix, and bilateral fallopian tubes along with normally developed male reproductive organs. It generally occurs during embryogenesis due to mutation in anti-Müllerian...

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ژورنال

عنوان ژورنال: International braz j urol

سال: 2017

ISSN: 1677-5538

DOI: 10.1590/s1677-5538.ibju.2017.0072