... with unilateral or bilateral cryptorchidism, inguinal hernias, and reproductive disorders with normal male genitalia. Variants in the AMH or AMHR2 genes are responsible for the development of this syndrome. The genetic diagnosis and surgery in PMDS is challenging for both the endocrinologist and the urologist...

... normal males. Homozygous or compound heterozygous alterations in AMH or AMHR2 have been identified in approximately 88% of PMDS cases. We report on a male patient with bilateral undescended gonads, müllerian derivatives, and normal serum AMH levels. A novel homozygous missense mutation, c.119G>C...

... receptor AMHR2. Mutations occurring in the AHM hormone and/or in the AMHR2 receptor gene cause the lack of regression of müllerian ducts, which may therefore persist even in male embryos carrying a XY chromosomal arrangement. This is known as the persistent müllerian duct syndrome (PMDS). A female German...

...% of the cases by mutations in the AMH gene or its type II receptor ( AMHR2 ). We report on 2 brothers with normal external genitalia but high serum AMH levels. Sequence analysis of the AMHR2 gene in the 2 siblings revealed a novel homozygous missense mutation in exon 10 (p.V458L, c.1372G>T). PMDS is a rare...

.... Mutations in AMH and AMHR2 lead to the persistence of müllerian ducts in males which is transmitted in a recessive pattern. Here, we report 2 Egyptian DSD (disorder of sex development) patients reared as males who presented with bilateral cryptorchidism and otherwise normal male external genitalia and who...

... epithelial to mesenchymal transition and move around the epithelium of the Müllerian duct to induce degeneration of this structure in male embryos. Besides AMH and its specific type II receptor AMHR2 two different type I receptors as well as different SMAD family members have been shown to be involved...