ESPE Abstracts

Disorders of sex development (DSD) refer to a group of congenital diseases with inconsistencies between chromosomal karyotypes, external genitalia, and gonadal development. Diagnosis and management strategy of DSD is difficult and various due to heterogeneous phenotype and genotype. Under widespread use of genomic sequencing technologies, multiple genes and mechanism has been identified and proposed as genetic causes of 46, XY DSD. In this study, 178 46, XY DSD patients were e...

Objective: To enhance the understanding of the clinical phenotypes of patients with SOX2 gene mutations.Method: A retrospectively analysis of the clinical manifestations and the laboratory results of a child diagnosed as idiopathic hypogonadotropic hypogonadism(IHH) by whole exome-gene sequencing and a review of relevant literatures.Results: A 12-year-old boy clinically manifested short stature, mental retardation, a histo...