hrp0092p3-12 | Adrenals and HPA Axis | ESPE2019

Clinical Follow-Up of a Novel NR0B1 Mutation in a Case of Adrenal Hypoplasia Congenital

yang haihua , wei haiyan , Shen Linghua , Wang Huizhen , Chen Qiong , Chen Yongxing , Liu Xiaojing

We have examined a male child patient aged about 15 years old to confirm the diagnosis of adrenal hypoplasia congenital (AHC) at the Genetics in-patient department, Children's Hospital Affiliated to Zhengzhou University.When the child was 5 years and 9 months,he was diagnosed as abmormal phenotypic characteristics who had skin hyperpigmentation, penis enlargement, rapid growth over the past 2 years, along with fatigue, drowsiness, and pubic hair appearing for 2 months.Base...

hrp0092p2-55 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Novel Missense COL10A1 Mutation Identified by Next Generation Sequencing in a Chinese Pedigree with Schmid Metaphyseal Chondrodysplasia

Chen Qiong , Wu Shengnan , Chen Yongxing , Wei Haiyan

We have examined a female child patient aged about 3 years and 8months old to confirm the diagnosis of Schmid metaphyseal chondrodysplasia (SMCD) at the Genetics out-patient department, Children's Hospital Affiliated to Zhengzhou University. The child was diagnosed with the abnormal phenotypic characteristics who showed short-limbed dwarfism, bowed legs, waddling gait and genu varum. Based on the child's family history, during the early stages, the child was misdiagnos...

hrp0097p1-219 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

An investigation of vitamin D deficiency in children with new onset type 1 diabetes mellitus from Henan Province, China

Chen Qiong , Yuan Shuxian , Chen Yongxing , Li Tao , Yang Wei , Huang Ai , Liu Fang , Cao Bingyan , Wei Haiyan

Several observational studies have reported vitamin D deficiency (VDD) in children with type 1 diabetes mellitus (T1DM). The investigation of VDD in children with new onset T1DM in China is lacking. The current study aimed to assess vitamin D status and examine the factors that influence VDD in children with new onset T1DM in Henan Province, China. Children with new onset T1DM (n=280) and healthy controls (n=710) were enrolled in Henan Province. Demographic a...