ESPE Abstracts

Objective: 21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia due to CYP21A2 gene mutation. The aim of study is to expand CYP21A2 mutational spectrum in the Chinese population and to provide novel genetic information in terms of ethnic diversity.Methods: 95 Chinese suspected 21-OHD patients with phenotypes varying from salt-wasting (SW) to nonclassic symptoms w...

Keywords: growth hormone, small for gestational age, genetic defects; Silver-Russell syndrome; growth hormone deficiencyObjectives: To evaluate the influencing factors of GH treatment in Chinese short stature children born SGA.Methods: This was a single-center, retrospective, cross-sectional survey in China. Of 101 patients were identified born SGA and 66 short stature children bor...

Keywords: Sleep-Related Breathing Disorders, recombinant human Growth Hormone treatment, Prader–Willi syndrome, Toddlers.Background: Recombinant human growth hormone (rhGH) therapy is beneficial for children with Prader–Willi syndrome (PWS) in improving short stature and metabolism, but the effect of early rhGH treatment on respiratory and sleep parameters for the PWS children under three years old remains el...