2个持续性苗勒管综合征家族中AMHR2的新突变
Novel mutations of AMHR2 in two families with persistent Müllerian duct syndrome
王利霞 1李小瑜 1徐亚如 2王敬梓 1朱浩波 1董隽 1郭云飞 1邓永继1
作者信息
- 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
- 2. 南京医科大学附属儿童医院病理科,江苏省儿童医学中心,南京 210008
- 折叠
摘要
持续性苗勒管综合征(PMDS)是拥有正常46,XY染色体核型的男性,因缺乏有活性的抗苗勒管激素(AMH)或AMH受体Ⅱ型(AMHR2)缺陷,导致外生殖器表现正常而体内持续存在苗勒管结构(子宫、输卵管、阴道上部).常见致病因素为AMH和AMHR2基因突变,以常染色体隐性方式遗传.本研究报告2个PMDS家族,第1例患儿因隐睾症于2019年5月入院诊治,发现存在苗勒管衍生物,基因测序分析报告AMHR2基因新发现1个错义突变(c.579G＞T;p.W193C)和1个剪切突变(c.622-3C＞A;splicing).其父亲为错义突变(c.579G＞T;p.W193C),其母亲为剪切突变(c.622-3C＞A;splicing).第2例患儿因双侧隐睾、右侧睾丸横过异位于2023年3月入院诊治,发现2个睾丸间未退化的苗勒管衍生物,血清AMH水平升高(565.00 μg/L),基因测序分析报告AMHR2基因新发缺失突变(c.835_837del;p.Leu279del).其父亲和母亲均为缺失突变(c.835_837del;p.Leu279del).本研究报告2个新的AMHR2基因突变,扩展了这种罕见疾病的突变位点,建议隐睾症的鉴别诊断考虑PMDS,尽早手术并依据个体解剖特点处理苗勒管衍生物.
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 Mullerian duct derivatives based on individual anatomical characteristics.
关键词
持续性苗勒管综合征/AMHR2基因/隐睾/睾丸横过异位Key words
Persistent Müllerian duct syndrome/AMHR2 gene/Cryptorchidism/Testicular transverse ectopia引用本文复制引用
出版年
2024
NETL
NSTL
万方数据