Persistent Mullerian Duct Syndrome

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Persistent Müllerian duct syndrome is a disorder of sexual development that affects males. Males with this disorder have normal male reproductive organs, though they also have a uterus and fallopian tubes, which are female reproductive organs. The uterus and fallopian tubes are derived from a structure called the Müllerian duct during development of the fetus. The Müllerian duct usually breaks down during early development in males, but it is retained in those with persistent Müllerian duct syndrome. Affected individuals have the normal chromosomes of a male (46,XY) and normal external male genitalia.

Most people with persistent Müllerian duct syndrome have mutations in the AMH gene or the AMHR2 gene. The AMH gene provides instructions for making a protein called anti-Müllerian hormone (AMH). The AMHR2 gene provides instructions for making a protein called AMH receptor type 2.

Persistent Müllerian duct syndrome is a rare disorder; however, the prevalence of the condition is unknown.

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. However, persistent Müllerian duct syndrome affects only males. Females with two mutated copies of the gene do not show signs and symptoms of the condition.

Published Date: March 01, 2011
Published By: National Institutes of Health