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2013-05-10

Persistent Müllerian duct syndrome: 8 new cases in Southern California and a review of the literature.

Persistent Müllerian duct syndrome: 8 new cases in Southern California and a review of the literature.

Pediatr Endocrinol Rev. 2012 Dec-2013 Jan;10(2):227-33

Authors: Salehi P, Koh CJ, Pitukcheewanont P, Trinh L, Daniels M, Geffner M

Abstract

Persistent Müllerian Duct Syndrome (PMDS) is a 46,XY disorder of sex development (DSD) in which Müllerian structures are found in genotypic males with normally virilized external genitalia and unilateral or bilateral cryptorchidism. It is usually diagnosed incidentally during surgical repair of cryptorchidism or inguinal hernia. The majority of cases are due to a mutation of the anti-Müllerian hormone (AMH) gene or the AMH receptor, type II (AMH-RII) gene. Management of patients with PMDS requires a multidisciplinary approach. Long-term prognosis is good although fertility appears to be decreased and there may be a risk of malignancy due to cryptorchidism and retained Müllerian remnants. We describe 8 new cases of PMDS diagnosed in Southern California in the past 10 years and review the literature.