Service d'Histologie, Embryologie et Cytogénétique, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Hôpital Antoine Béclère, 92140 Clamart, France.
Faculté de Médecine, Université Paris-Saclay, 94270 Le Kremlin-Bicêtre, France.
Hum Reprod. 2020 Apr 28;35(4):999-1003. doi: 10.1093/humrep/deaa014.
The persistent Müllerian duct syndrome (PMDS) is defined by the persistence of Müllerian derivatives in an otherwise normally virilized 46,XY male. It is usually caused by mutations in either the anti-Müllerian 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.
持续性 Müllerian 管发育不全综合征（PMDS）是指在雄激素正常作用的 46,XY 男性中， Müllerian 衍生物持续存在。其通常由抗 Müllerian 激素（AMH）或 AMH 受体 2（AMHR2）基因的突变引起。我们报道了首例因 AMHR2 基因所在的染色体 12q13.13 微缺失导致的 PMDS 病例。一个病例涉及 AMHR2 基因的五个外显子的纯合微缺失。第二个病例中，AMHR2 基因从母系遗传的染色体上缺失。患者的父系等位基因携带一个终止突变，最初通过 Sanger 测序被认为是纯合的。我们讨论了诊断方法，重点介绍了比较基因组杂交和靶向大规模平行测序。
