hrp0089p3-p406 | Growth & Syndromes P3 | ESPE2018

Two Siblings with Prader-Willi Syndrome Caused by Microdeletion Derived from the Paternal Grandmother

Dong Guanping , Dai Yangli , Huang Ke , Zou Chaochun , Chen Xuefeng

Prader-Willi syndrome (PWS) is a complex neurobehavioral disorder characterized by infantile significant hypotonia and feeding difficulties, followed by morbid obesity secondary to hyperphagia, short stature, functionally deficient gonads, intellectual disabilities and behavioral problems. It is caused by lack of expression of imprinting genes on the paternally inherited chromosome 15q11.2-q13 region. The genetic mechanism responsible for Prader-Willi syndrome can rarely be in...

hrp0086p1-p30 | Adrenal P1 | ESPE2016

Reference Intervals for the Steroid Hormones of 6 to 14 year Old Normal Male Children with LC-MS Method

Cao Bingyan , Gong Chunxiu , Guo Yongli , Wu Di

Objective and hypotheses: The purpose of this research is to establish reference intervals for the steroid hormones of 6 to14 year-old normal male children using LC-MS method; study the variation pattern of steroid hormones in terms of different ages and Tanner stages of puberty.Method: A total of 1175 male children from 6 to 14 years old from Shunyi District, Beijing, have participated in this research, with 820 children determined as normal-weight. Pre...