ESPE Abstracts

We present two cases of a 13-year-old boy and a 12-year-old girl who were initially diagnosed as central diabetes insipidus (CDI). The Magnetic resonance imaging (MRI) showed pituitary stalk thickening with prominent homogeneous contrast enhancement in T1W and the loss of high signal in the posterior pituitary. In addition to CDI, the two children have a common clinical manifestation of growth retardation, with the laboratory tests suggesting complete growth hormone deficiency...

Objective: To summarize the clinical features and genetic characteristics of a patient with multiple endocrine neoplasia type 2B (MEN2B) and to review the literatures.Methods: We summarized clinical features, gene sequencing result, treatment and prognosis of a child suffered with MEN2B who was admitted to the Department of Pediatrics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine in February 2016. And...

Objective: To summarize the clinical characteristics, genetics and follow-up data of five children with thyroid hormone resistance syndrome (RTH) and review the related literatures.Methods: The clinical data of the five children diagnosed with RTH in our hospital from 2018 to 2020 were retrospectively analyzed. Next-generation sequencing of the candidate genes related to thyroid diseases was performed using the blood col...

Background: Defects of the insulin receptor gene (INSR) can cause genetic syndromes associated with a wide diverse range of congenital insulin resistance from milder insulin-resistant diabetes mellitus (Type A insulin resistance syndrome, TAIRS) to leprechaunism (Donahue syndrome). Clinical features in TAIRS vary due to the severity of damage in INSR, precise diagnosis is challenging.Materials and Methods</stron...

Growth hormone deficiency (GHD) is a relatively rare cause for short stature resulting from insufficient secretion of growth hormone (GH). With complicated etiology, GHD can coexist in numerous syndromes or disorders such as Turner Syndrome. So, it is necessary to take genetic analysis to patients with GHD especially those perform various phenotypes. A 9.5 years old boy complained of short stature was diagnosed with GHD by height velocity (HV) <5 cm/year, delayed bone age ...

Title: The making of the EndoWatch: A new device for Early Monitoring of Hypothalamic imbalances. Hulsmann S, Petras S, Fraboulet P, Yuan Lu, van Santen HM (on behalf of the EndoWatch team) Keywords: Paediatric and adolescent cancer survivors, Brain tumour, Quality of Life, Wearable, Hypothalamic Obesity Main goals: Aim for better quality of lifeIntroduction: Children and adults with a suprasellar (hypothalamic)...

Objective: Maturity onset diabetes of the young (MODY)5 is a type of monogenic diabetes. Primary autosomal recessive microcephaly (MCPH)3 is a rare microcephaly caused by depletion of neuronal progenitor cells characterized by mostly normal brain structure, mental retardation, and premature closure of the frontal cranial suture. To report a case of MODY5 combined with MCPH3, in order to increase the clinical attention to this disease.<st...

Objectives: The aim was to clarify the associations of Irisin with obesity and early onset metabolic and vascular sequelae in Chinese children, and to examine whether the association between obesity and endothelial dysfunction and vascular Inflammation was mediated by Irisin.Methods: We quantified Irisin serum levels in 85 lean and 120 obese children and assessed associations with metabolic and cardiovascular parameters ...

Objective: Asprosin, a novel peptide that has recently discovered as an important regulatory adipokine, is relevant to obesity in animals and adult humans. Little is known about its roles in children. The aim of the current study was to determine the potential role of asprosin and explore its relationship to various obesity-related markers in children with obesity.Methods: A cross-sectional study was conducted among 119 ...

Objective: The aim was to investigate the mechanism for impaired control of lipolysis in obesity by investigating the effect of PID1 on insulin-induced activation of AKT/PKA/HSL pathway and lipolysis.Methods: First, CIDEC expression was detected in adipose tissue and blood insulin and glycerol levels were measured in high-fat diet-induced obese rats. Next, we examined the effect of different concentrations of insulin on lipolysis and AKT/PKA/HSL pathway ...