ESPE Abstracts

Background: Micropenis may result from different aetiology and therapy data are still scarce.Objective and hypotheses: To investigate the effect and safety of dihydrotestosterone transdermal gel in children with micropenis.Method: Totally 23 agnogenic micropenis children with 46,XY karyotype were recruited to participate a perspective study. SRY, AR and SRD5A2 gene were sequenced. 2.5% DHT gel was applied individually based on the ...

Background: MODY can be mistaken for Diabetes type 1 or type 2.Objective: To evaluate genetic background in 22 patients presented with diabetes, negative islet cell antibodies, normal C-peptide and positive family history of diabetes. Genetic testing was done at Invitae laboratory and evaluated 28 genes for diagnosis of MODY.Results: Patients were divided into 2 groups: Group 1 wit...

Case report: 14 yrs. old Hispanic girl was referred for evaluation of diabetes (Hb A1c 9.8 %) and morbid obesity BMI 36 kg/m2. She developed acanthosis nigricans, elevated triglycerides (TG) 1162 mg/dl, low HDL 34 mg/dl, fatty liver with elevated AST 84 U/l, ALT 103 U/L. The abdominal sonogram revealed significant hepatomegaly with moderate steatosis. Her islet cell AB were negative, C-peptide 3.11 ng/ml was normal. She has a strong family history of diabetes:...

Objective: 21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia due to CYP21A2 gene mutation. The aim of study is to expand CYP21A2 mutational spectrum in the Chinese population and to provide novel genetic information in terms of ethnic diversity.Methods: 95 Chinese suspected 21-OHD patients with phenotypes varying from salt-wasting (SW) to nonclassic symptoms w...

Background: Simple obese is a worldwide public health problem. Recent studies suggested a possible relationship between obese and vitamin D deficiency.Objective and hypotheses: To discuss the relationship between 25-Hdroxyvitamin D with glucose and lipid metabolism of simple obese in Chinese children.Method: 65 children with obeses (35 mild-to-moderate, 50 severe) and sixty-two children with normal weight were enrolled in this tria...

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...

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...

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...

Type 1 diabetes mellitus is autoimmune T cells mediated destruction of β-cells. Mesenchymal stem cells (MSCs) are considered a promising treatment for T1DM due to the strong immunosuppressive and regenerative capacity. However, the comprehensive mechanism is still unclear. Our previous study indicated that the transforming growth factor beta-induced gene (TGFBI) is highly expressed in human umbilical cord derived mesenchymal stem cells (hUC-MSCs), which is also implicated...

Department of Pediatric Endocrinology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, ChinaAbstract Withdrawn...