ESPE Abstracts

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: The interpretation of serum 17α-hydroxyprogesterone (17OHP) results is difficult as age-related pediatric reference intervals are scant. The aim of this study is to determine the reference intervals for serum 17OHP according to sex and age groups in newborns. We also aimed to establish reference intervals for right and left adrenal gland sizes, and to evaluate the relation with adrenal size and serum 17OHP concentrations in newborns.<p class="abst...

Osteogenesis imperfecta is a hereditary connective tissue disease developing based on the structure or synthesis impairment of type 1 collagen and proceeding with diffuse osteoporosis, fragility, fractures and deformities in bones. Bone mineral density can be at normal or even high levels particularly especially in type I and XIII. Here, a 13 year-old boy diagnosed as osteogenesis imperfecta with normal bone mineral density was presented and treatment results were shared. A 13...

Introduction: Vitamin D resistant rickets type II (VDDR-II) is a disease with a difficult treatment developed as a result of mutations in VDR gene. Despite high dose active vitamin D and oral calcium treatments, sufficient recovery cannot be achieved mostly. Successful results with intravenous calcium infusion that is an alternative treatment have been reported; however, serious restrictions and complications such as hospitalization, catheter infection, thrombosis, skin necros...

Aim: Glucose metabolism can affect by several genes, and some of them represent distictive clinical and laboratory features. tRNA methyltransferase 10 homologue A (TRMT10A) gene is a tRNA methyl transferase, and localised to the nucleolus, where tRNA modifications occur. Very recently, a novel syndrome of abnormal glucose homeostasis or nonautoimmune diabetes associated with microcephaly, epilepsy, intellectual disability, failure to thrive, delayed puberty caused by ...

Introduction: It has been suggested that adipokines found in breast milk and may be effective in early growth of infants.Purpose: It was aimed to evaluate the relationship between total ghrelin (TGh) and nesfatin-1 levels in breast milk with anthropometric measurements in the first 4 months of life in infants with small for gestation age (SGA) showing fast growth pattern.Method: A total of 20 SGA and 20 control infants with appropr...

Introduction: BMI is claimed to be unreliable in the determination of body fat rate and cardiometabolic risk. Troublesome and reproducibility low measurements like waist circumference, waist circumference/height rate are used in the evaluation of cardiometabolic risk. Triponderal mass index (TMI; weight/height3), however, is suggested to be superior BMI in determining body fat rate and obesity.Purpose: In this study TMI’s relationship wit...

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...