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...

hrp0089p3-p236 | Growth & 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...

hrp0086p2-p587 | Perinatal Endocrinology P2 | ESPE2016

Permanent Neonatal Diabetes Mellitus Due to a G32S Heterozygous Mutation in the Insulin Gene

Xu Xiao-qin , Huang Ke , Hong Fang

Background: Permanent neonatal diabetes mellitus (PNDM) is a rare form of monogenic diabetes with onset less than 6 months of age. Together, activating mutations in KCNJ11 and ABCC8 genes, that encode the Kir6.2 andsulfonylurea receptor 1 (SUR1) subunits, respectively, account for nearly 50% of PNDM cases.Case report: We present a case reported a child diagnosed with PNDM resulting from a new mutation in the insulin (INS) gene, leading to severe hypergly...

hrp0098p1-279 | Pituitary, Neuroendocrinology and Puberty 4 | ESPE2024

Value of serum AMH and INHB in the diagnosis and treatment of central precocious puberty and early and fast puberty girls

Yang Yu , Zhang Haimeng , Huang Hui

Objective: To investigate the role of serum anti-mullerian hormone (AMH) and inhibin-B (INHB) in central precocious puberty precocious puberty (CPP) and early and fast puberty (EFP).Methods: A total of 423 girls with CPP, EFP, premature thelarche (PT) and undeveloped healthy who were treated in our Hospital from October 2020 to December 2022 were collected. General data, sex hormones, AMH, INHB levels and gonad ultrasoun...

hrp0086p1-p606 | Growth P1 | ESPE2016

The Role of IGF-1R Gene Polymorphisms with Regard to Susceptibility to Idiopathic Short Stature Risk in the Chinese Population of Jiangxi Area

Yang Yu , Huang Hui , Yu Zhen , Wang Wei , Yang Li , Huang Wei , Xie Liling

Background: Accumulated evidence indicates that the GH-IGF-1 pathway might be one of the crucial mechanisms of ISS. Insulin-like growth factor-1 receptor (IGF-1R) is the effector molecule that regulates the cascade reaction of hormone receptors in the GH–IGF-1 axis.Objective and hypotheses: To investigate the role of IGF-1R gene polymorphisms with regard to susceptibility to Idiopathic short stature risk in the Chinese population of Jiangxi area.</p...

hrp0095p2-80 | Diabetes and Insulin | ESPE2022

A MODY2 pedigree with GCK gene mutation and literatures review

Huang Siqi , Hou Lele , Meng Zhe , Liang Liyang

Objective: To report a family with MODY2 associated with GCK gene mutation and improve clinicians' understanding of this gene mutation.Methods: The clinical manifestations, laboratory examinations and genetic test results of a MODY2 family diagnosed and treated in our hospital were analyzed retrospectively, and the related literatures were reviewed.Results: The patient is a 6-...

hrp0095p2-108 | Fat, Metabolism and Obesity | ESPE2022

A Noval De Novo PHIP Variant Contributing to Chung-Jansen Syndrome: a case report and review

Huang Feiyan , Liang Liyang , Hou Lele , Zhang Lina , Meng Zhe

Objectives: To present Chung-Jansen Syndrome or CHUJANS by a de novo variant in the pleckstrin homology domain-interacting protein (PHIP) gene and compare the clinical phenotype with previous case reports; ②To provide a novel genetic detection methods with whole-exome sequencing(WES) and whole genome sequencing(WGS) and Sanger sequencing for rare genetic diseases.Patients and methods: Following collecting clinical...

hrp0095p2-174 | Growth and Syndromes | ESPE2022

Lysine urinary protein intolerance with lupus kidney, lupus brain and extremely short stature: a case report and literatures review

Huang Siqi , Hou Lele , Meng Zhe , Liang Liyang

Objective: To report the clinical and gene mutation characteristics of a patient with lysine urinary protein intolerance (LPI) characterized by lupus nephritis, lupus encephalitis and extreme short stature, so as to improve understanding of the clinical characteristics of LPI caused by SLC7A7 gene mutation.Methods: The clinical manifestation, laboratory examination and gene test results of a child with LPI diagnosed and ...

hrp0095p2-184 | Growth and Syndromes | ESPE2022

Clinical characteristics and genetic analysis of BLM gene mutation with Bloom syndrome without facial erythema changes

Huang Hui , Yang Yu , Shuai Xia , Xiong Xiangyu , Chen Ka

Objective: To retrospectively analyze the clinical data, laboratory examination, gene test results, diagnosis and treatment of a case of small gestational age, short stature and microcephaly in the department of Endocrinology, Genetics and Metabolism of Jiangxi Children's Hospital.Methods: The detailed clinical symptoms and family history of the children and their families were evaluated. 2ml peripheral blood of the...

hrp0095p2-268 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Case Report:Clinical and genetic features of 46, XY DSD caused by a mutation in DHX37 gene

Yang Yu , Huang Hui , Wu Tieniu , Yang Li

The DHX37 gene has been identified to cause 46, XY disorders of sex development (DSD), yet there are no reports in China. Here, we report a Chinese pediatric case of 46, XY DSD identified by Whole-exome sequencing which carried a heterozygous missense mutation c.2020 C > T (P.R674 W) in DHX37 gene (NM _ 032656) inherited from the mother. Gonadal pathology showed that the left gonad was structured with a vas deferens and epididymal duct, and the right gonad had vas deferens,...