hrp0092p2-16 | Adrenals and HPA Axis | ESPE2019

A Case of Infantile Cushing's Syndrome from McCune Albright Syndrome: The Importance of Multiple-Site Sampling for Genetic Testing

Beng Hui Ng Nicholas , Tay Vanerry LQ , Ooi Delicia SQ , Loke Kah Yin

Case Description: We report a case of a 7-month old Vietnamese boy who presented with failure to thrive and a Cushingoid appearance from 1 month old. There was no history of exogenous steroid use. On examination, height and weight were <3rd centile. He was Cushingoid with motor development delay. There were multiple large café-au-lait lesions over the sacral region but no limb asymmetry to suggest fibrous dysplasia.En...

hrp0092p2-68 | Diabetes and Insulin | ESPE2019

Pancreatic β Cell Function and its Relationship with Iron Overload in Patients with β-Thalassemia Major

Zhang Lina , Liang Liyang , Jiang Zhuannan , Meng Zhe , Ou Hui , Liu Zulin , Hou Lele , Haung Siqi

Objective: The functional status and influencing factors of pancreatic beta cells in patients with β-thalassemia major (β-TM) were investigated.Methods: A cross-sectional study was conducted in 88 patients with β-TM, with an average age of 11.3±5.6 years. Thirty-two healthy subjects were selected as the control group. FBG, FINS, HOMA-IRI, HMOA-ISIand HOMA-β FI were calculated between ...

hrp0092p3-89 | Diabetes and Insulin | ESPE2019

A Mitophagic Response to iron Overload-Induced Oxidative Damage Associated with the PINK1/Parkin Pathway in Pancreatic Beta Cells

ZHANG Lina , LIANG Liyang , LIU Zulin , HOU Lele , OU Hui , HUANG Siqi

An increased iron overload led to a disorder in glucose metabolism. However, the mechanism through which iron overload induces beta cell death remains unknown. The present study revealed that ferric ammonium citrate treatment inhibited cell viability in vitro, induced a decline in mitochondrial membrane potential, increased oxidative stress and activated mitophagy. These effects could be alleviated by a reactive oxygen species scavenger. In summary, we demonstrated th...

hrp0089p2-p006 | Adrenals and HPA Axis P2 | ESPE2018

Analysis of Phenotypes and Genotypes in 84 Patients with 21-hydroxylase Deficiency

Hou Lele , Lin Shaofen , Meng Zhe , Ou Hui , Liu Zulin , Zhang Lina , Jiang Zhuannan , Liang Liyang

Background and Aims: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2 gene is the most common form of CAH. This study aims to analyze the phenotype-genotype correlation and the characteristics of gene mutation frequency of 21-OHD patients in China, helping to provide evidence for clinical practice and genetic counseling of 21-OHD patie...

hrp0089p2-p042 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

High Fibroblast Growth Factor (FGF) 23: An Unusual Cause of Severe Osteoporosis in a Patient with Chronic Liver Disease

Ng Nicholas Beng Hui , Lee Yung Seng , Sng Andrew Anjian , Aw Marion Margaret , Loke Kah Yin

Case description: A 14-year old boy with autoimmune hepatitis who was on long term oral steroids for 10 years, presented with acute onset lower back pain without preceding trauma. Lumbar spine radiograph showed severe osteopenia and compression fractures of vertebrae T12 to L1. Bone mineral density T-score at the lumbar region was −4.9. Biochemically, there was hypocalcaemia and severe hypophosphataemia with adjusted calcium 2.03 (2.20–2.65) mmol/l and phosphate 0.8...

hrp0089p3-p188 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Weight Outcome in Infants with Prolonged Hyperinsulinemic Hypoglycemia Treated with Diazoxide vs Those with Spontaneous Resolution

Chandran Suresh , Rajadurai Victor Samuel , Yi Chng Hui , Jinjie Lin , Lim Joyce , Peng Fabian Yap Kok

Background: In newborns, physiological transition of glucose metabolism is typically completed within 48–72 h of life, yet prolonged hyperinsulinemic hypoglycemia (HH) beyond 5d of life is not uncommonly encountered, especially in infants at-risk of hypoglycemia. Management includes intravenous dextrose while awaiting spontaneous resolution (SR) of HH or Diazoxide (DZX) therapy. Since DZX acts by suppressing insulin release, concerns arise whether weight gain in infancy w...

hrp0089p2-p209 | GH &amp; IGFs P2 | ESPE2018

A Novel Mutation of Type I Insulin-like Growth Factor Receptor (IGF1R) Gene in a Severe Short Stature Pedigree Identified by Targeted Next-generation Sequencing (NGS)

Yang Yu , Huang Hui , Li Yang , Xie Liling , Chen Ka , Xiong Ting , Wu Xian

Objective: To identify genetic mutations of a pedigree affected by severe short stature in Chinese populations for the first time.Methods: Auxological and endocrinological profiles were measured. Targeted next-generation sequencing (NGS) analyses comprising 277 shorted stature-associated candidate genes and 19 related copy number variation (CNV) regions were used to identify gene mutations in the proband. Three web-based software programs (SIFT, PolyPhen...

hrp0089p2-p315 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Research on the Relationship between Secular Trends of Pubertal Development and Obesity in Child and Adolescent

Xiong Feng , Luo Xuan , Song Cui , Zhu Gao-Hui , Zhu Min

Objective: To research the the relationship between secular trends of puberty development and obesity in child and adolescent in area of southwest China.Methods: Selected respectively 4010 childs and adolescents aged between 6 and 17 years in April 2003 to May 2005, and 1387 childs and adolescents aged between 6 and 18 years in December 2013 to November 2015 in China Chongqing area.Height, weight and the breast, pubic hair development of girls, and the t...

hrp0086p2-p409 | Gonads &amp; DSD P2 | ESPE2016

Analysis of Clinical Manifestations and Gene Mutations of 5α-Reductase Type 2 Deficiency in 16 Cases

Hou Lele , Liang Liyang , Meng Zhe , Ou Hui , Zhang Lina , Liu Zulin

Background: 5α-reductase type 2 deficiency is a rare autosomal recessive hereditary disease. SRD5A2 gene defects lead to dysfunction of 5α-reductase type 2, that impair the conversion of testosterone to dihydrotestosterone and cause clinical features.Objective and hypotheses: To analyze the clinical manifestations and gene mutations of 5α-reductase type 2 deficiency in childhood.Method: The clinical features, laborat...

hrp0086p2-p675 | Growth P2 | ESPE2016

The Effects and Safety of Recombinant Human GH (rhGH) Treatment on Growth Hormone Deficiency in Children with Rathke’s Cleft Cyst

Liyang Liang , Zhe Meng , Lina Zhang , Hui OU , Lele Hou , Zulin Liu

Background: Rathke’s cleft cyst (RCC) has been reported rarely in children and adolescents. The occurrence of RCC with hypoplastic anterior pituitary can be explained by their common embryologic origin. However, the effects and sfety of recombinant human GH (rhGH) in GH deficient (GHD) children with RCC has not been previously reported.Objective and hypotheses: To assess the effects and safety of recombinant human GH (rhGH) in GH deficient (GHD) chi...