Novel mutations of AMHR2 in two families with persistent Müllerian duct syndrome
10.3760/cma.j.cn101070-20230928-00243
- VernacularTitle:2个持续性苗勒管综合征家族中 AMHR2的新突变
- Author:
Lixia WANG
1
;
Xiaoyu LI
;
Yaru XU
;
Jingzi WANG
;
Haobo ZHU
;
Jun DONG
;
Yunfei GUO
;
Yongji DENG
Author Information
1. 南京医科大学附属儿童医院泌尿外科，江苏省儿童医学中心，南京 210008
- Keywords:
Persistent Müllerian duct syndrome;
AMHR2 gene;
Cryptorchidism;
Testicular transverse ectopia
- From:
Chinese Journal of Applied Clinical Pediatrics
2024;39(6):465-468
- CountryChina
- Language:Chinese
-
Abstract:
Persistent Müllerian duct syndrome(PMDS) is a rare disorder that arises from a lack of active anti-Müllerian hormone(AMH) or type Ⅱ AMH receptor(AMHR2) deficiency in males with a normal 46, XY chromosome karyotype.It presents that the external genitalia appears normally while the Müllerian duct structure(uterus, fallopian tubes, upper vagina) persists in the body.Common pathogenic factors are mutations in the AMH and AMHR2 genes, inherited in an autosomal recessive manner.This study reported two families with PMDS.The first patient was diagnosed with PMDS due to cryptorchidism in May 2019.Gene sequencing analysis revealed a new missense mutation(c.579G>T; p.W193C) and a splicing mutation(c.622-3C>A; splicing) in the AMHR2 gene.His father had the missense mutation(c.579G>T; p.W193C), and his mother had the splicing mutation(c.622-3C>A; splicing).The second patient was diagnosed with PMDS due to bilateral cryptorchidism, transverse testis ectopia in the right testicle in March 2023.Undegraded Müllerian tube derivatives were found between the two testicles, and serum AMH levels were very high(565.00 μg/L).Gene sequencing analysis reported that the AMHR2 gene had a new deletion mutation(c.835_837del; p.Leu279del).Both his father and mother had a deletion mutation(c.835_837del; p.Leu279del).This study reports two new AMHR2 gene mutations that expand the mutation sites of this rare disease.It is recommended to consider PMDS in the differential diagnosis of cryptorchidism, undergo surgery as early as possible, and treat Müllerian duct derivatives based on individual anatomical characteristics.
