Gao Fenqi, Gong Chunxiu, Li Lele
Department of Endocrinology, Genetics and Metabolism, National Center for Children's Health (Beijing), Beijing Children's Hospital Affiliated to Capital Medical University, Beijing 100045, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Sep 10;38(9):912-916. doi: 10.3760/cma.j.cn511374-20200913-00666.
MAMLD1 gene has been implicated in 46,XY disorders of sex development (DSD) in recent years. Patients carrying MAMLD1 gene variants showed a "continuous spectrum" of simple micropenis, mild, moderate and severe hypospadias with micropenis, cryptorchidism, split scrotum and even complete gonadal dysplasia. The function of MAMLD1 gene in sexual development has not been fully elucidated, and its role in DSD has remained controversial. This article has reviewed recent findings on the role of the MAMLD1 gene in DSD, including the MAMLD1 gene, its encoded protein, genetic variants, clinical phenotype and possible pathogenic mechanism in DSD.
近年来，MAMLD1基因与46,XY性发育障碍（DSD）有关。携带MAMLD1基因变异的患者表现出“连续谱系”的单纯小阴茎、伴有小阴茎的轻、中、重度尿道下裂、隐睾、阴囊分裂甚至完全性腺发育不全。MAMLD1基因在性发育中的功能尚未完全阐明，其在DSD中的作用仍存在争议。本文综述了MAMLD1基因在DSD中作用的最新研究结果，包括MAMLD1基因、其编码的蛋白质、基因变异、临床表型以及DSD中可能的致病机制。
