hrp0089p3-p339 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Analysis of Genetic Mutations in a Chinese Pedigree Affected with Idiopathic Hypogonadotropic Hypogonadism Syndrome

Yang Yu , Huang Hui

Objective: The aim of this study was to detect potential gene mutation of idiopathic hypogonadotropic hypogonadism Syndrome (IHH) in a Chinese family.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. A Disorder of Sexual Development (DSD) gene panel was applied to identify the pathogenic mutation responsible for the DSD and verified by Sanger.</...

hrp0084p3-907 | Fat | ESPE2015

The Correlation Study on Childhood Obesity, Insulin Resistance and Androgens

Xiong Feng , Zhang Yu-Qing , Ding Xiao-Yan , Wang Dong-Gang , Zhu Min

Background: Adolescent hyperandrogenemia is prophase of polycystic ovary syndrome. Obesity is one important cause of hyperandrogenemia. Whether hyperandrogenemia has happened in obese children is need to explore.Aims and objectives: To investigate the levels of insulin and androgens in obese children, analysis the correlation between insulin resistance and androgens, and comparison on the differences of androgens levels between obese boys and girls, and ...

hrp0089p3-p138 | Fat, Metabolism and Obesity P3 | ESPE2018

A Compound Heterozygote Mutation in a Chinese Patient Affected with Methylmalonic Acidemia

Yang Yu , Huang Hui , Yuan Yi

Objective: The aim of this study was to detect potential gene mutation of Methylmalonic acidemia (MAA) in a Chinese patient.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. A NGS panel include MUT,MMAA,MMAB,MMADHC and MCEE genes was identify the pathogenic mutation responsible for the MAA and verified by Sanger.Results: A...

hrp0089p3-p236 | Growth &amp; Syndromes P3 | ESPE2018

A Novel Homozygous Mutation in ERCC8 Cause Cockayne Syndrome a in a Chinese Family

Yang Yu , Huang Hui , Zhou Bin

Background: Short stature can be caused by mutations in a multitude of different genes. Cockayne Syndrome is a rare growth disorder marked by progressive growth failure, neurologic abnormality. The current report describes a patient with severe short stature and neurologic abnormality.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. The gene wa...

hrp0084p3-792 | DSD | ESPE2015

Physical Assessment and Growth Curve of 46, XY Disorders of Sex Development Children Who Aged 0–16-Years-Old

Wu Di , Gong Chunxiu , Chen Hui

Background: The growth pattern of normal children was inappropriately used to evaluate those who with DSD.Objective: To understand growth and development of the 46, XY disorders of sex development (DSD) children, drawing height, weight and BMI curve of children with 46, XY DSD at the age of 0–16.Method: The registration database was used in this study. Non- CAH 0-16 years old 46, XY DSDs were collected. Growth curves were fitt...

hrp0092p2-294 | Thyroid | ESPE2019

A New Case of Thyroid Hormone Resistance α Caused by a Mutation of THRA/TRa1

Chen Linqi , Sun Hui , Chen Xiuli , Chen Ting

The action of Thyroid hormone (T3) is mediated by the binding to nuclear receptors (TRa1, TRα1/2), which are ligand dependent transcription factors, encoded by the THRA and THRB genes. THRA germline mutations cause a rare genetic disease called resistance to thyroid hormone α (RTHα) first reported in 2012 . Only 20 missense and frameshift mutations have been reported to date, From this small group of patients, and analysis of animal models, it emerges that the d...

hrp0089p2-p089 | Diabetes &amp; Insulin P2 | ESPE2018

A Curious Case of Persistent Lactic Acidosis in a Child with Diabetic Ketoacidosis

Sng Andrew , Ng Nicholas , Hui-Lin Chin , Lim Yvonne

Summary: An 11 year old girl with poorly controlled type 1 diabetes mellitus (T1DM) presented with persistent lactic acidosis and transaminitis despite resolution of diabetic ketoacidosis (DKA), subsequently confirmed histologically to have glycogen hepatopathy (GH). This case describes a rare but known complication of poorly controlled DM and offers some novel insights in the management of GH.Clinical case: The patient had a history of poor compliance t...

hrp0086p1-p230 | Diabetes P1 | ESPE2016

Growth and Glucose Metabolism after Allogenic Bone Marrow Transplantation for Thalassemia Major

Lao Wenqin , Liang Liyang , Meng Zhe , Ou Hui , Hou Lele

Background: Growth failure and abnormal plasma glucose level are common in patients with thalassemia major (TM), which are usually due to iron overload after repeated blood transfusion. Patients after successful bone marrow transplantation (BMT) will be free from further blood transfusion and thus spared from complications of iron overload. This study aimed at determining the incidence of abnormal glucose level in TM patients and studying the height difference between the TM p...

hrp0086p2-p271 | Diabetes P2 | ESPE2016

Abnormal Glucose Level in Patients with Thalassemia Major

Lao Wenqin , Liang Liyang , Ou Hui , Meng Zhe , Zhang Lina

Background: Abnormalities in glucose homeostasis are fairly common complications in thalassemia major (TM) patients. This study aimed at determining the incidence of diabetes mellitus (DM) and studying the potential factors responsible for secondary DM of TM patients.Objective and hypotheses: A total of 54 (33 male) transfusion-dependent TM patients were in the ‘TM group ’; 25 age- and gender-matched healthy children were recruited as the &#145...

hrp0086p2-p319 | Diabetes P2 | ESPE2016

The Relationship among Cardiac T2*, Liver T2* and Abnormal Glucose in Patients with Thalassemia Major

Lao Wenqin , Lliang Liyang , Meng Zhe , Ou Hui , Liu Zulin

Background: Abnormalities in glucose homeostasis are fairly common complications in thalassemia major (TM) patients. Previous studies had shown associations between some endocrinopathies and iron overload of the myocardium, liver as assessed by MRI techniques. This study aimed at determining the relationship among cardiac T2*, liver T2* and abnormal glucose in TM patients.Objective and hypotheses: A total of 34 (27 male) transfusion-dependent TM patients...