hrp0082p1-d1-67 | Diabetes | ESPE2014

Protective Effects of Combined Intervention with Adenovirus Vector Mediated il10 and igf1 Genes on Endogenous Islet β Cells in Nonobese Diabetes Mice with Onset of Type 1 Diabetes Mellitus

Li Tang , Zhang Lijuan , Chen Yanyan , Li Cheng , Lin Xiaojie

Introduction: To investigate the protective effects of combined intervention with adenovirus vector mediated interleukin 10 (IL10) and IGF1 genes on islet β cells in nonobese diabetes (NOD) mice with type 1 diabetes mellitus (T1D) at early stage.Methods: Twenty-four female NOD mice at onset of diabetes and aged 17–20 weeks old were randomly divided into four groups. Mouse 1, 2, and 3 groups were i.p. injected 0.1 ml of Ad-mIGF1, Ad-mIL10, and c...

hrp0092p2-37 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

An Unusual Case of Hyperparathyroidism: Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC) Associated with Mutations in CLDN19

Lin Yuezhen

Background: FHHNC is an autosomal recessive disorder caused by mutations in either claudin 19 or claudin 16. This is a rare disorder of magnesium metabolism with fewer than 400 reported cases throughout the literature. It is also a somewhat underdiagnosed disorder, not being commonly observed.Case presentation: Patient was a 2 years old female who was incidentally noted to have nephrocalcinosis as part of evaluation for ...

hrp0089p2-p211 | GH & IGFs P2 | ESPE2018

Growth Hormone Treatment for Short Stature Associated with TRNT1 Deficiency: A Case Series

Lin Yuezhen

Background: TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a newly reported inborn error of metabolism caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs). TRNT1 mutations cause a complex multisystem disease leading to manifestations in most organs. We here described the effect of growth hormone (GH) treatment on short stature in two siblings with TRNT1 deficiency.Case p...

hrp0092p3-245 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Ovarian Insufficiency: The Hidden Uterus

Cheng Biwen , Chao-Hsu Lin

Gynecologic anomalies, including uterine agenesis and ovarian dysgenesis, are reported in clinical practice of reproductive endocrinology. They are some of several differential diagnoses in adolescent females with primary amenorrhea and delayed puberty. Primary ovarian insufficiency can be determined by conducting sex hormone tests to evaluate the hypothalamic-pituitary-ovarian axis, but accurate confirmation of Mullerian agenesis can be extremely challenging by image modaliti...

hrp0082p3-d3-797 | Fat Metabolism & Obesity (2) | ESPE2014

Gene Mutation and Clinical Characteristics Analysis in Progressive Familial Intrahepatic Cholestasis

Lin Ruizhu , Liu Li , Sheng Huiying

Background: Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessive diseases.Objective and hypotheses: To explore the characterization of ATP8B1, ABCB11 and ABCB4 gene mutational spectrum in children from South China.Method: By using PCR combined with direct DNA sequencing for 32 patients.Results: Six patients were diagnosed as PFIC.Conclusion: Six novel mutations...

hrp0084fc1.1 | Adrenal | ESPE2015

A Genomic Atlas of Human Gonad and Adrenal Development

Duncan Andrew , Buoncore Federica , Lin Lin , Barenco Martino , Hubank Mike , Gerrelli Dianne , Achermann John

Background: The adrenal glands and gonads develop from an area of intermediate mesoderm between 6 and 10 weeks post conception (wpc) in humans. Elucidating the genomic components and pathways in these processes could reveal novel aspects of human developmental biology and new factors implicated in adrenal insufficiency and DSD.Objective and hypotheses: To develop a unique genomic atlas of adrenal and gonad development during critical stages of human embr...

hrp0095p1-226 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

FGFR3 gene mutation causes hypochondroplasia via autophagy inhibition

Che Lin , Wu Jinxia , Xu Ren , Chen Jing

Background: Fibroblast growth factor receptor 3 (FGFR3) is a negative regulator of skeletal development. Gain-of-function point mutations in FGFR3 are responsible for hypochondroplasia (HCH), one of the most common forms of dwarfism in humans. Autophagy is an evolutionarily conserved catabolic process, which is indispensable for cell homeostasis maintenance and stress responses. Dysregulation at the level of autophagic activity consequently disturbs the chondr...

hrp0092rfc4.1 | Fat Metabolism and Obesity Session | ESPE2019

Expression of miRNAs in Circulating Exosomes Derived from Patients with NAFLD

zhang jianwei , hu lin , huang ke , fu junfen

Nonalcoholic fatty liver disease (NAFLD),which represents the leading cause of hepatic damage worldwide,is modulated by epigenetic factors, in particular microRNAs (miRNAs), which control at post-transcriptional level many complementary target mRNA. However, the evidence for this is inconsistent. The high stability and expression of circulating exosomal miRNAs may allow their use as candidate biomarkers. For the discovery phase,exosomes were isolated from the serum of patients...

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...

hrp0089p2-p089 | Diabetes & 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...