hrp0089p3-p235 | Growth & Syndromes P3 | ESPE2018

Analysis of Genetic Mutations in a Chinese Patient Affected with Noonan Syndrome

Yang Yu , Huang Hui

Objective: The aim of this study was to detect potential gene mutation of Noonan Syndrome 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. The PTPN11, KRAS, SOS1, RAF1, NRAS, BRAF, RIT1, SOS2, LZTR1, SHOC2, CBL, NF1 gene was sequenced to identify the pathogenic mutation responsible for the development of Noonan Syndrome by P...

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.</...

hrp0098rfc1.3 | Diabetes and Insulin | ESPE2024

Akkermansia muciniphila induces immune homeostasis in type 1 diabetic mice by up-regulating CD4 + FoxP3 + Treg expression.

Baojiang Huang , Qiuli Chen

Research Objectives: Studies have shown that Akkermansiella mucinophila has a positive effect in various metabolic diseases, and can also prevent the onset of spontaneous type 1 diabetic NOD mice. However, its effect on type 1 diabetic mice is not clear. The purpose of this study is to analyze the effect of Akkermansiella mucinophila intervention on type 1 diabetic mice.Research Methods: Thirty male C57BL / 6 mice aged 3...

hrp0098p2-248 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Associations of lifestyle factors with sex hormones among 6-19 years old children and adolescents

Huang Jia-Shuan

Background: Sex hormones are crucial for the growth and development of children and adolescents. Several studies have indicated the association between lifestyle factors and sex hormones in adulthood. However, few studies have assessed the association of lifestyle factors and sex hormones among children and adolescents. This study aim ed to assess the association between lifestyle factors and sex hormones in children and adolescents.<str...

hrp0098p2-350 | Late Breaking | ESPE2024

The genetic and clinical aspects of 10 patients with GH-IGF-1 axis gene variants

Huang Xiaozhen , Chen Ruimin

Objective: This study analyzed ten short stature patients with growth hormone-insulin-like growth factor-1 (GH-IGF-1) axis gene variants, and aim ed to explore both clinical and genetic characteristics, as well as the recombinant human growth hormone (rhGH) treatment response through a review of the literature.Methods: The clinical characteristics and response to rhGH treatment in 10 patients with GH1, GHR</...

hrp0092p2-125 | Fat, Metabolism and Obesity | ESPE2019

Clinical Features and Genetic Analysis of Childhood Dyslipidemia

Huang Dan , ZOU Chao-Chun

Objective: Dyslipidemia is a disease characterized by a genetic or multifactorial disorder of lipid and/or lipoprotein metabolism. Childhood dyslipidemia is a rare genetic metabolic disease that can cause serious cardiovascular disease and seriously endanger children's health.Methods: We retrospectively analyzed the clinical data of 10 patients with dyslipidemia who were admitted to the Department of Endocrinology, C...

hrp0092p1-104 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Interesting Genotype-Phenotype Differences in Siblings with Familial Hypopituitarism and Pituitary Hypoplasia

Thorley Emma , Huang Lana , Puthi Vijith

Context: The majority of congenital isolated growth hormone deficiency (IGHD) cases are idiopathic.Recent research has shed light on the genetic aetiologies of congenital hypopituitarism. HESX1 and GLI2 are two transcription factors, amongst a cascade of other transcription factors and signalling molecules, involved in the development of the pituitary gland. Mutations in both genes have been shown to cause congenital hypopituitarism with varying phenotypes.</p...

hrp0092p2-27 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

The First Case Report of SEMD-JL1 in China

Huang Ke , Zhang Jianwei , Dong Guanpin

Background: Spondyloepimetaphyseal dysplasia with joint laxity type 1(SEMD-JL1) is a rare entity with a recessive inheritance. It is one of the genetic skeletal disorders (GSD) and B3GALT6 loss-of-function mutations were found in individuals with SEMD-JL1 from several families. However, there was no case described in China.Case report: An 8-year-old boy presented to our hospital with short stature, hyperlaxity w...

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...

hrp0089p2-p194 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Molecular Defects Identified by Whole Exome Sequencing in a Chinese Boy with Fructose-1,6-Bisphosphatase Deficiency

Huang Zhuo , Wu Jin , Xiang Chengfa

Backgroud: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare autosomal recessive inherited disorder of gluconeogenesis, which caused by the mutations in the FBP1 gene. FBPase deficiency is characterized by recurrent episodes of hypoglycemia with metabolic and lactic acidosis. If diagnosed early, the prognosis of this disorder is excellent by the prevention of hypoglycemia and avoidance of intake of fructose and sucrose. However, the misdiagnosis of FBPase defi...