Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature.

ABSTRACT:

Background

Mastermind-like domain-containing 1 (MAMLD1) has previously been identified as a causative gene for "46,XY Disorders of Sex Development (DSD)". Recently, there has been some controversy regarding the causative role of MAMLD1 variations in DSDs. Here we describe a clinical series and review the reported cases to evaluate the role of MAMLD1 variants in children with 46,XY DSD. Cases of 46,XY DSD harbouring MAMLD1 variants from unrelated families were recruited from the Beijing Children's Hospital in China (N = 10) or identified through a literature search (N = 26). The clinical manifestations and genetic variants of all the patients were evaluated.

Results

Hypospadias was the most prevalent phenotype among our 10 cases (8 out of 10 cases) and in all the previously r

SUBMITTER: Li L 

PROVIDER: S-EPMC7370409 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature