hrp0092p2-29 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Clinical and Genetic Characteristics of Pseudohypoparathyroidism Type 1A in Children Based on Single-center Cohort Study

Zhou Xuelian , Wu Wei , Huang Ke , Dong Guanping , Yuan Jinna , Liang Xinyi , Zhu Mingqiang , Fu Junfen

Background: Pseudohypoparathyroidism 1A (PHP1A) is a rare disease caused by mutations of GNAS gene, and characterized by Albright's hereditary osteodystrophy (AHO) and resistance to multiple hormones. Infantile onset is often missing diagnosed due to atypical clinical manifestations. This study aims to summarize the clinical and genetic characteristics of child onset PHP1A patients.Methods: 12 patients were ...

hrp0097lb7 | Late Breaking | ESPE2023

Hypercalcemia in children: experience from a single center

Lin Hu , Wu Wei , Xu Xiaoqin , Yu Zhu , Zhu Mingqiang , Huang Ke , Fu Junfen , Dong Guanping

Purpose: This study aimed to profile children diagnosed with hypercalcemia of different etiologies at a single center.Method: We retrospectively reviewed 13 children diagnosed with hypercalcemia of different etiologies.Results: We describe 13 pediatric cases, aged 4 months to 12 years old (median age: 8 months), diagnosed from 2018 to 2021. Six males and seven females were included...