ESPE Abstracts

Background: Studies about the genetics of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) in Chinese children are less.Objective and hypotheses: Study the genotypes of Chinese probands with salt-wasting form of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CAH) and performed pedigree-based linkage analysis.Method: We have performed genetic-testing (Method...

Objectives: The gonadotropin-releasing hormone (GnRH) analogue triptorelin is used to treat central precocious puberty (CPP) in 1-, 3- and 6-month prolonged-release (PR) formulations. Currently, only the 1- and 3-month formulations are approved for CPP in China. However, the 6-month formulation is available for CPP treatment in numerous countries; this study assessed the efficacy and safety of this formulation in Chinese children with CPP.<p class="abstext...

This study aim ed to screen pediatric patients with clinically diagnosed pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and progressive osseous heteroplasia (POH) for genetic and epigenetic defects in GNAS and to assess their clinical features. A total 87 patients from 8 medical centers in China were included in this study, and 70 patients underwent analysis of GNAS by next-generation sequencing and methylation-specific multiple ligati...