Persistent Mullerian duct syndrome due to anti-Mullerian hormone receptor 2 microdeletions: a diagnostic challenge.

The persistent Mullerian duct syndrome (PMDS) is defined by the persistence of Mullerian derivatives in an otherwise normally virilized 46,XY male. It is usually caused by mutations in either the anti-Mullerian hormone (AMH) or AMH receptor type 2 (AMHR2) genes. We report the first cases of PMDS resulting from a microdeletion of the chromosomal region 12q13.13, the locus of the gene for AMHR2. One case involved a homozygous microdeletion of five exons of the AMHR2 gene. In the second case, the whole AMHR2 gene was deleted from the maternally inherited chromosome. The patient's paternal allele carried a stop mutation, which was initially thought to be homozygous by Sanger sequencing. Diagnostic methods are discussed, with an emphasis on comparative genomic hybridization and targeted massive parallel sequencing.