Identification of a novel MAP3K1 variant in a family with 46, XY DSD and partial growth hormone deficiency.

ABSTRACT: The 46, XY disorder of sex development (DSD) is the main cause of birth defects; however, as it is a group of highly heterogeneous diseases, >50% of cases are not accurately diagnosed. Identification of more cases will improve understanding of the relationship between genotype and phenotype for DSD. The present study conducted a systematic analysis of the clinical characteristics of a proband with 46, XY DSD, applied genetic analysis by whole‑exome sequencing to this pedigree and performed bioinformatics analysis of the identified variant. The proband presented with a short penis, lack of testicles and partial growth hormone (GH) deficiency at 1 year old. Histopathological examination revealed there were oviduct, epididymis and fibrous vascular tissue on both sides of the abdomen. The last

SUBMITTER: Cheng Y 

PROVIDER: S-EPMC9494616 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature