ESPE Abstracts

Background: Oestrogen has positive effect to glucose and lipid metabolism. On the contrary, leptin has negative effect to metabolism. During GnRHa treatment, the secretion of oestrogen was suppressed and its effect will fade away.Objective and hypotheses: To observe the changes of body fat and metabolic parameters of central precocious puberty (CPP) or early and fast puberty (EFP) girls who treated with Gonadotropin-releasing hormone analogues (GnRHa).</...

Background: X-linked Adrenal Hypoplasia Congenita (AHC) is a very rare hereditary cause of pediatric primary adrenal insufficiency (PAI). Congenital adrenal hyperplasia (CAH) due to 21-hydrolase deficiency(21OHD) is most common hereditary cause of pediatric PAI with autodominal recessive inheritance.Objective: To present a Chinese boy with PAI with the pathogenic mutation of NROB1 and Double mutants in cis of CYP21A2 gen...

Background: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a genetic disorder which was first recognized in 2010. MDPL syndrome is comprised of mandibular hypoplasia, deafness, progeroid features, lipodystrophy, hypogonadism and metabolic disorders. It is caused by an autosomal dominant mutation in the polymerase delta 1 (POLD1) gene, with <30 genetically confirmed cases to date.Cas...

Objective: To summarize the metabolic status in children with classic congenital adrenal hyperplasia(CAH) due to 21-hydroxylase deficiency (21OHD).Methods: Children with classic 21OHD from Pediatric Endocrinology Clinics at the First affiliated hospital of Sun Yat-Sen University from January 1990 to February 2023 were included in the study. The prevalence of overweight/obesity, dyslipidemia [high triglyceride (TG), high ...

In a randomized open-label phase 3 trial in 62 children (1–12 years) with X-linked hypophosphatemia (XLH) (NCT 02915705), switching from conventional therapy (oral phosphate plus active vitamin D) to burosumab, a monoclonal antibody targeting fibroblast growth factor 23, significantly improved serum phosphate concentration, rickets, lower-extremity deformities, growth, mobility, and patient-reported outcomes (PROs) at 64 weeks. Children in Europe, USA, Canada, and Australia wh...

Introduction: A natiowide screening for Congenital Hypothyroidism (CH) was introduced 1996 in Russian Federation and Saratov Region. Revelation of the incidence of CH is of great value at the background of moderate iodine deficiency existing in Saratov and Saratov Region. Neonatal screening is an effective method for early detection of congenital hypothyroidism, a disorder that requires the prompt initiation of the treatment, in order to prevent the subsequent...

Background: Obesity is tightly associated with adipose tissue inflammation. Tumor necrosis factor-alpha (TNFα) has been identified as a key player in this inflammatory process and has been linked to the development of obesity-associated insulin resistance. Our group studies the involvement of TNF superfamily members in obesity-induced alterations in adipose tissue.Objective and hypotheses: Here, we aimed to identify the effects of the TNF superfamil...

Background: microRNAs (miRNAs) are a class of small (18–25 nucleotides), non-coding RNA molecules. They play an important role in the regulation of gene expression by either suppressing translation of genes or inducing their mRNA degradation. Several miRNA species are expressed in adipose tissue and involved in adipocyte function.Objective and hypotheses: Obesity leads to the infiltration of macrophages into adipose tissue causing local inflammation...

Background: GH administration restores normal growth in children with GH deficiency (GHD). However, current daily s.c. injection treatment regimens may be inconvenient leading to impaired adherence and subsequently suboptimal treatment outcomes. NNC0195-0092 is a novel, reversible albumin-binding GH developed for once-weekly administration.Objective and hypotheses: This was a randomised, open-label, active-controlled, dose-escalation trial (NCT01973244) ...

Background: Adipose tissue is an important endocrine organ. Its secretion profile is robustly changed in the context of obesity fueling the development of comorbidities such as insulin resistance, diabetes mellitus type 2, and atherosclerosis. We have recently shown that the adipose tissue expression of the death ligand TNF-Related Apoptosis-Inducing Ligand TRAIL and its receptors is upregulated in obesity.Objective and Hypotheses: In this project, we in...