Department of Endocrinology, Growth and Development, "P. & A. Kyriakou" Children's Hospital, Athens, Greece.
2nd Department of Pediatric Surgery, "P. & A. Kyriakou" Children's Hospital, Athens, Greece.
J Pediatr Endocrinol Metab. 2023 Jul 24;36(9):890-894. doi: 10.1515/jpem-2023-0245. Print 2023 Sep 26.
To highlight important clinical aspects of Persistent Müllerian duct syndrome (PMDS). PMDS belongs to the group of differences of sex development. It is attributed to mutations in genes encoding for the anti-Müllerian hormone or its type II receptor (AMHR2) and inherited via an autosomal recessive transmission.
An 18-day-old male infant with known bilateral cryptorchidism, presented with left-sided obstructed inguinal hernia. The diagnosis of PMDS was considered during inguinal exploration as both testes together with uterus and fallopian tubes were recognized in the hernial sac. Histology confirmed the presence of Müllerian-derived tissues. Genetic testing revealed two different mutations of the AMHR2 gene, both with autosomal recessive transmission: a frequently encountered deletion of 27 pairs bases on exon 10 of this 11 exon gene and a novel deletion of 2 pairs bases on exon 6.
This case is notable being the rarest type of PMDS, that of transverse testicular ectopia and associated with a novel AMHR2 gene mutation.
强调持久性 Müller 管发育不全综合征（PMDS）的重要临床方面。PMDS 属于性别发育差异的一种。它归因于编码抗 Müller 管激素或其 II 型受体（AMHR2）的基因突变，并通过常染色体隐性遗传传递。
一名 18 天大的男性婴儿，已知双侧隐睾，表现为左侧腹股沟疝嵌顿。在腹股沟探查期间考虑 PMDS 诊断，因为在疝囊中同时识别出两个睾丸、子宫和输卵管。组织学证实存在 Müller 源性组织。基因检测显示 AMHR2 基因的两个不同突变，均为常染色体隐性遗传：该 11 外显子基因的第 10 外显子上 27 对碱基的常见缺失和第 6 外显子上 2 对碱基的新缺失。
该病例是最罕见的 PMDS 类型，即横过睾丸异位，与新型 AMHR2 基因突变相关。
