A novel AMH variant at the prehelix loop impairs the binding to AMHR2 and causes persistent Mullerian duct syndrome  

作　　者：Qiang Du Chuang Qiu Yuan-Yuan Zhang Xue-Jun Shang Xiao-Liang Liu 

机构地区：[1]Center of Reproductive Medicine,Shengjing Hospital of China Medical University,Shenyang 110004,China [2]Department of Orthopedics,Shengjing Hospital of China Medical University,Shenyang 110004,China [3]Department of Clinical Genetics,Shengjing Hospital of China Medical University,Shenyang 110004,China [4]Department of Urology,Jinling Hospital,School of Medicine,Nanjing University,Nanjing 210012,China

出　　处：《Asian Journal of Andrology》2024年第2期222-224,共3页亚洲男性学杂志（英文版）

基　　金：supported by grant from the Natural Science Foundation of Liaoning Province(No.2022 MS 208);the 345 Talent of Shengjing Hospital of China Medical University(No.M1395);the General Project of Shengjing Hospital of China Medical University(No.2023-M 1643).

摘　　要：Dear Editor,Persistent Mullerian duct syndrome(PMDS;Online Mendelian Inheritance in Man[OMIM]:#261550)is a rare autosomal recessive inherent difference in sex development in males with Mullerian duct derivatives,including the uterus,fallopian tubes,and upper part of the vagina.'Approximately 88%of PMDS patients were found to have biallelic variants in the anti-Mullerian hormone(AMH;OMIM:*600957)or AMH type 2 receptor(AMHR2;OMIM:*600956)genes,and the rest were referred as idiopathic.I The serum AMH levels are usually very low or undetectable in PMDS patients with AMH gene mutations but normal or elevated in those with AMHR2 gene mutations.Here,an adult Chinese patient with PMDS carrying biallelic variants of the AMH gene was reported to have unexpectedly normal serum AMH level.Please refer to Supplementary Information of Patient and Methods for methodologies.

关 键 词：ELEVATED AMH MULLER 

分 类 号：R697[医药卫生—泌尿科学]