ESPE Abstracts

Background: The growth hormone (GH) stimulation test, which requires multiple blood sampling, should be performed to confirm the diagnosis of growth hormone deficiency because of the pulsatile secretion of GH. In addition to hypoglycemia, L-dopa and arginine, deep sleep is also known as an important stimulator of GH secretion.Objectives: The aim of study was to assess the accuracy and predictive value of the test of post...

Background: Congenital hyperinsulinism (CHI) is a disorder causing persistent hypoglycemia due to oversecretion of insulin. Diazoxide, a KATP channel opener in pancreatic beta cells is the treatment of choice, however, the glucose level should be monitored carefully. We report here a case of an infant girl with CHI who was complicated by diabetic ketoacidosis (DKA) during acute febrile illness.Case Report: A 1...

Objectives: Owing to the tremendous advances in next-generation sequencing technology, numerous monogenic causes of growth disorders have been identified. Identifying novel rare genetic causes of short stature (SS) is quite challenging. In 2017, we reported a mutation analysis of 15 patients with undiagnosed syndromic SS or overgrowth. In this study, 6 mutations in another 10 Korean patients with unexplained syndromic SS are reported. The aim of this study is ...

Background: Dyslipidaemia is related with the initiation and progression of atherosclerosis in children, and the total cholesterol (TC) and non-high density lipoprotein cholesterol (non-HDL-C) are commonly used screening tools for identifying children with dyslipidaemia. The triglyceride-to-high density lipoprotein cholesterol (TG/HDL-C) ratio has recently been reported as a marker of insulin resistance in obese children and adolescents.Objective and hyp...

Background: Central precocious puberty (CPP) is mostly idiopathic, however, familial cases of CPP and evidence of genetic factors on pubertal timing by genome-wide association studies suggested genetic causes of CPP.Objective and hypotheses: Molecular defects in six genes (KISS1, KISS1R, LIN28A, LIN28B, TAC3, and TACR3) have been known to cause early activation of the hypothalamic-pituitary–gonad...

Background: Craniopharyngioma is the most common parasellar tumor in childhood arising from remnants of Rathke’s pouch. As the hypothalamus plays a vital role in regulation of body weight by balancing energy intake and expenditure, hypothalamic damage by structural lesions is one of the most common causes of hypothalamic obesity. This study investigated prevalence, risk factors for the development of hypothalamic obesity, and consequent morbidities in children following t...

IGFALSgene is located in chromosome 16p13.3 encoding acid labile subunit which binds insulin-like growth factors (IGFs) to increase their half-life and vascular localization. The biallelic defect of this gene leads to acid-labile subunit deficiency characterized by postnatal growth retardation, insulin resistance, delayed puberty, and no growth hormone deficiency. A 5-year-old-boy was referred to as low IGF-1 and cortisol level. He presented with obesity and growth re...

Background: Overgrowth syndromes comprise a group of disorders associated with excessive growth and other features such as facial dysmorphism, developmental delay, neurological problems and an increased risk of neoplasia. The genetic basis for many of these conditions is being increasingly elucidated. Here, we report on a 3-year-old boy who was referred for evaluation of generalized overgrowth.Objective and hypotheses: Our hypotheses is that unclassified...

Background: The serum 25-hydroxyvitamin D (25OHD) levels are known to be lower in obese children, probably due to sequestration of vitamin D in the adipose tissue. However, there is no consensus on the dose adjustment for vitamin D supplementation in obese children with vitamin D deficiency (VDD).Aims: To compare the response to vitamin D replacement in normal weight vs overweight children with VDD, and to investigate the determinant for increment of 25O...

Background: Prader–Willi syndrome (PWS) is characterised by neonatal hypotonia, hypogonadism, progressive obesity, short stature, and mental retardation. This syndrome arises from a loss of expression of paternally derived genes on chromosome 15q11–13 region.Objective and hypotheses: The aim of this study was to investigate clinical characteristics and their genotypes in Korean patients with PWS.Method: The study included...