ESPE Abstracts

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...

Purpose: Since the COVID-19 outbreak, the number of obese children and adolescents has increased rapidly. Obesity acts as a gateway to chronic adult diseases, so proper management during childhood and adolescence is essential. We aimed to identify the interannual changes in the prevalence of obesity, diabetes mellitus, dyslipidemia, and hypertension, and to investigate factors contributing to these changes before and during the COVID-19 pandemic.<p class="...

Pituitary stalk interruption syndrome (PSIS) is a rare congenital pituitary anatomical defect with endocrine abnormalities. The triad of this syndrome comprises thin or interrupted pituitary stalk, absent or ectopic posterior lobe, and hypoplastic or aplastic anterior pituitary lobe. We diagnosed a 16-year-old female patient with combined pituitary hormone deficiency (CPHD) due to PSIS. The patient complained of chronic fatigue and was Tanner stage 1 with no signs of puberty. ...

Background: Glycogen storage disease (GSD) is an inherited metabolic defect of metabolic defect of glycogenolysis and gluconeogenesis. Patients with GSDs are associated with endocrine abnormalities such as short stature, delayed puberty, fasting hypoglycemia, and dyslipidemia. In addition, patients with GSD 1b are also at risk of autoimmune hypothyroidism. Therefore, this study was performed to investigate endocrine complications in patients with GSD.<p cl...

Background: Turner syndrome, a condition that affects only girls and women, result when the X chromosome is missing or partially missing. Ornithine transcarbamylase (OTC) deficiency, the most common inherited urea cycle disorder, is transmitted as a partially dominant X-linked trait. The OTC gene maps to Xp21.1 and spans approximately 73 kb, containing 10 exons and 9 introns. OTC deficiency is diagnosed using a combination of clinical findings and biochemical testing, while co...

Purpose: Adrenal neoplasms (ANs) are rare endocrine neoplasms in children, and etiopathogenesis and prognosis of pediatric ANs remain obscure. This study investigated clinical features, histopathological features, genetic etiologies and prognosis of ANs.Methods: This study included 33 ANs patients diagnosed from March 1997 to April 2021. Clinical features and endocrine findings were collected by retrospective medical cha...

Backgrounds: Sitosterolemia is an inborn error of sterol metabolism caused by pathogenic variation of ABCG5 or ABCG8. It is characterized by increased plant sterol levels, xanthomas, and accelerated atherosclerosis; however, it is likely to be underdiagnosed in the clinical field. This study aims to describe the genetic variance of clinically confirmed patients with sitosterolemia and analyze the clinical spectrum according to genetic variance.<p class="ab...

Background: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is caused by a deficiency in GnRH production, secretion or action and a highly heterogeneous disorder with wide phenotypic spectrum including Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). More than 30 different causative genes have been identified in several studies. FGFR1 mutations have been identified in about 3–10&#3...