ESPE Abstracts

Background: Androgen insensitivity syndrome (AIS) is a common 46XY disorders of sex development (DSD), which is mainly caused by mutations in the androgen receptor (AR) gene. The clinical manifestations vary among patients, depending on residual androgen receptor activity.Methods: Five patients with different degrees of masculinization of external genitalia were selected as the research objects. As well as the detailed m...

Objective: To identify genetic mutations of a pedigree affected by severe short stature in Chinese populations for the first time.Methods: Auxological and endocrinological profiles were measured. Targeted next-generation sequencing (NGS) analyses comprising 277 shorted stature-associated candidate genes and 19 related copy number variation (CNV) regions were used to identify gene mutations in the proband. Three web-based software programs (SIFT, PolyPhen...