ESPE Abstracts

Ferritin is a widely used iron storage indicator. At the same time, it is also viewed as an indicator of inflammation. Chronic low-grade inflammation in obese individual, especially in the one with metabolic disorders, related to comorbidities and poor prognosis. Both hyperglycemia and iron overload can induce inflammation and result in vascular endothelial dysfunction. To study the role of ferritin in obese children and its impact on artery and liver, the present study invest...

Background: Pseudohypoparathyroidism 1A (PHP1A) is a rare disease caused by mutations of GNAS gene, and characterized by Albright's hereditary osteodystrophy (AHO) and resistance to multiple hormones. Infantile onset is often missing diagnosed due to atypical clinical manifestations. This study aims to summarize the clinical and genetic characteristics of child onset PHP1A patients.Methods: 12 patients were ...

Background: Several studies have shown that born small for gestational age (SGA) children have earlier precocious puberty, progress faster, and are less likely to gain target height in adults than children born appropriate for gestational age (AGA). Moreover, SGA children are more prone to metabolic disorders - obesity, diabetes and cardiovascular disease.Objective: To compare the physical development status, serum lipid...

We have examined a male child patient aged about 15 years old to confirm the diagnosis of adrenal hypoplasia congenital (AHC) at the Genetics in-patient department, Children's Hospital Affiliated to Zhengzhou University.When the child was 5 years and 9 months,he was diagnosed as abmormal phenotypic characteristics who had skin hyperpigmentation, penis enlargement, rapid growth over the past 2 years, along with fatigue, drowsiness, and pubic hair appearing for 2 months.Base...

Background: Prader-Willi syndrome is a genetic disorder characterized by obesity, short statue, hypotonia and hypogonadism. Delayed or incomplete puberty are usually found in PWS, whereas central precocious puberty is very rare.Objective: This study aimed to report the case of a boy with PWS who was diagnosed with precocious puberty during growth hormone replacement therapy.Methods...

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...

Background and aims: A novel bioactive peptide, mitochondrial-derived peptide (MOTS-c), has recently attracted attention as a potential prevention or therapeutic option for obesity and type 2 diabetes mellitus (T2DM). MOTS-c profiles have not yet been reported in human obesity and T2DM. We aimed to determine circulating MOTS-c levels in obesity and explore the association between MOTS-c levels and various metabolic parameters. Methods: In this case-control study, 40 obese chil...

Introduction: Hypothalamic obesity (HyOb) is a rare form of treatment-resistant morbid obesity associated with congenital or acquired hypothalamic damage. Its pathophysiology is incompletely understood, with weight gain being attributed to hyperphagia and hyperinsulinaemia. We sought to compare the physiology of various plasma appetite-regulating hormones in HyOb and ‘simple’ obesity (Ob) to improve our understanding of both forms of obesity and identify novel therap...

Objective: Beckwith-Wiedemann syndrome (BWS) is a genetic disorder that results from abnormal expression of function of imprinting genes. Clinical manifestations vary greatly. To study the molecular genetic mechanism of BWS by Methylation Specific Multiplex Ligation-dependent Probe Amplification (MS-MPLA) and to analyze the relationship between genotype and phenotype, that will be helpful to improve the understanding of this disease.Methods: The copy num...