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...

hrp0092p3-32 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Chinese Girl Suffered Both Osteogenesis Imperfecta and Mucopolysaccharidosis: Trio WES Could Tell us More

Zheng Zhangqian , Yang Lin , Lu Wei , Luo Feihong

Case: A 7-year-old female revealed short bowed femurs and humeri with old fractures and bowed tibias and fibulas. Her height was 97cm and weight was 11kg. Her younger sister had the same phenotype as same as her mother. The Trio WES test showed that they all inherited from their mother's COL1A2 gene mutation (c.928G>A; p.G328S) and diagnosed Osteogenesis Imperfecta, type IV. Unfortunately, the 7-year-old girl also presents coarse face, short neck, limi...

hrp0089fc9.4 | Pituitary, neuroendocrinology and Puberty 1 | ESPE2018

Neuroendocrine Morbidity after Paediatric Craniopharyngioma: a Longitudinal Single Centre Analysis of 93 Patients Over 30 Years

Dehalvi Shiraz , Guzzetti Chiara , Gan Hoong-Wei , Spoudeas Helen

Context: Craniopharyngiomas are rare, suprasellar tumours with excellent 5-year survival rates of 95%. Despite their benign histology, their tendency to invade vital nearby optic, hypothalamopituitary and vascular structures, complicates resection whilst potentially causing secondary life limiting morbidity, panhypopituitarism and premature mortality. Since 1997, conservative hypothalamic-sparing surgery and radiation to the residual tumour has replaced aggressive resection at...

hrp0089p3-p022 | Adrenals and HPA Axis P3 | ESPE2018

Identification of X-linked Adrenoleukodystrophy in Boys Presenting with Adrenal Insufficiency in the Absence of Adrenal Antibodies

Ryalls Michael , Gan Hoong-Wei , Biedenkapp Joe , Davison James

Adrenoleukodystrophy (ALD) is an X-linked, metabolic disorder caused by genetic deficiency of peroxisomal ALD protein resulting in accumulation of very-long chain fatty acids (VLCFA) primarily in the adrenal cortex and central nervous system. Approximately 35–40% of boys with ALD develop cerebral ALD (CALD), which causes rapidly progressive cerebral demyelination, loss of neurologic function, and death. Disease progress can be halted by allogeneic hematopoietic cell trans...

hrp0089p1-p097 | Fat, Metabolism and Obesity P1 | ESPE2018

Circulating Exosomal miRNAs Involved in the Pathogenesis of Children Nonalcoholic Steatohepatitis

Zhou Xuelian , Fu Junfen , Dong Guanping , Huang Ke , Wu Wei

Circulating Exosomal miRNAs involved in the Pathogenesis of Children Nonalcoholic Steatohepatitis.Background: The incidence of children non-alcoholic fatty liver disease (NAFLD) increased rapidly paralleled with the global burden of obesity and diabetes. Although most patients are nonalcoholic fatty liver, there are still a small part of them will progress to nonalcoholic steatohepatitis (NASH), fibrosis and cirrhosis. However, the diagnosis of NASH is b...

hrp0089p3-p216 | GH & IGFs P3 | ESPE2018

Efficacy and Safety of Recombinant Human GH in Treating Chinese Children with Idiopathic Short Stature

Ying Yanqin , Hou Ling , Yan Liang , Wu Wei , Luo Xiaoping

This study aims to investigate the efficacy and safety of recombinant human GH (rhGH) in the treatment of idiopathic short stature (ISS).Methods: The data of 200 ISS children, who were treated with rhGH from January 2008 to December 2016, were collected and retrospectively analyzed. The data of height, bone age, blood glucose, insulin, thyroid function and IGF-1 were collected, and annual growth rate (AGR), height standard deviation score (HtSDS) and rel...

hrp0089p3-p217 | GH & IGFs P3 | ESPE2018

Comparison the Recombinant Human GH (rhGH) Treatment in Children with Idiopathic Short Stature (ISS) and GH Deficiency (GHD)

Ying Yanqin , Hou Ling , Liang Yan , Wu Wei , Luo Xiaoping

Background: The efficacy and safety of rhGH treatment on ISS and GHD were not reported in Chinese children. In this study, we aimed to compare the efficacy and safety of rhGH therapy in ISS and GHD.Methods: The clinical data in children with ISS and GHD who were treated with rhGH for more than one year from 2005 to 2016 were retrospectively analyzed. Growth velocity (GV), HtSDS, IGF1 SDS, BMI and the incidence of fasting hyperglycemia, fasting hyperinsul...

hrp0089p2-p336 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

A Novel Mutation in 5’; Untranslation Region of Makorin Ring Finger 3 Gene Associated with the Familial Precocious Puberty

Lu Wenli , Wang Junqi , Li Chuanyin , Hu Ronggui , Wang Wei

Central precocious puberty (CPP) is the endocrine disorder triggering by many factors those can activate the hypothalamic-pituitary-gonadal axis early which controlled GnRH secretion. However, the mechanism of CPP has not been elucidated. The study of patients with familial CPP helped understanding the complex physiological processes. Recently, loss-of-function mutations in human Makorin ring finger protein 3 (MKRN3) were found to contribute to over 30% of cases of familial CP...

hrp0089p1-p256 | Thyroid P1 | ESPE2018

Mutation Screening in 60 Chinese Patients with Congenital Hypothyroidism

Zheng Zhangqian , Lu Wei , Wu Jing , Luo Feihong

Objectives: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder in infancy. The aim of this study was to screen for reported gene mutations among CH patients in our hospital and to illustrate a genetic mutation spectrum of CH in China.Methods: We designed a gene panel consisting of more than 20 relevant genes including TSHR and DUOX2. Blood samples were collected from 60 CH patients and their parents in Children’s Hospital ...

hrp0086p2-p94 | Adrenal P2 | ESPE2016

11β- Hydroxylase Deficiency due to a Novel Compound Heterozygous Mutation and Literature Review

Wu Wei , Dong Guanping , Li Yun , Wang Jinling

Background: The incidence of 11β-hydroxylase deficiency is quite low in China, less is reported about the gene mutation in Chinese population.Objective and hypotheses: To analyze the clinical features and CYP11B1 gene mutations of a family with 11β-hydroxylase deficiency (11β-OHD) and literature review were also included.Method: Physical examination and laboratory tests were done on a 4 years old girl and gene mutati...