Persistent Mullerian duct syndrome

Definition:

Persistent Mullerian duct syndrome (PMDS) is a rare form of a 46,XY disorder of sex development, in which remnants of Mullerian ducts are seen in phenotypically normal males. The syndrome is caused either by a mutation in the Anti-Mullerian hormone (AMH) gene or the AMH receptor gene (AMHR2). AMH is secreted mainly by immature Sertoli cells at the time of sex differentiation in fetal life, and have a role in the regression of Mullerian ducts.

References:

[1]. Ayça Altincik, et al. Persistent Müllerian duct syndrome: A novel mutation in the Αnti-Müllerian Ηormone gene. Hormones (Athens). 2017 Apr;16(2):205-208. [Content Brief]

[2]. Berenice Bilharinho Mendonca, et al. 46,XY disorders of sex development (DSD). Clin Endocrinol (Oxf). 2009 Feb;70(2):173-87. [Content Brief]

[3]. Nathalie Josso, et al. AMH and AMH receptor defects in persistent Müllerian duct syndrome. Hum Reprod Update. 2005 Jul-Aug;11(4):351-6. [Content Brief]

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