ESPE Abstracts

Purpose: Multiple endocrine neoplasia (MEN) is a rare, autosomal dominantly inherited cancer syndrome caused by a mutation in MEN1 or RET gene. Identification of the genetic causes of the MEN is critical because genotype provides information on timing of prophylactic surgery in patients with MEN type 2 who have clinically silent tumors. Therefore, this study investigated clinical phenotype and molecular characteristics of children with MEN in...

Purpose: Type 1 diabetes mellitus (DM) is the most common cause of diabetes in children and adolescents. Prevalence of monogenic DM is estimated for about 1%–5% of all patients with DM. Overlapping clinical features of various forms of diabetes make differential diagnosis challenging. This study was performed to investigate frequency and genetic etiologies of monogenic diabetes in a single academic center.Methods: This study included 466 consecutive...

Background: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is caused by a deficiency in GnRH production, secretion or action. IGD is 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. However, there are no data on the prevalence, clinical characteristics, and mole...

Background: CHARGE syndrome is a complex of congenital malformations affecting multiple organ systems caused by mutations in CHD7.Objective and hypotheses: This study was performed to evaluate endocrine dysfunctions including hypogonadotropic hypogonadism, growth hormone deficiency, or hypothyroidism in patients with CHARGE syndrome.Method: Eighteen patients (10 males and 8 females) with CHARGE syndrome were included. A di...

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...

Background: Achondroplasia is the most common condition characterized by disproportionate short stature. Patients with achondroplasia progressively fall below normal standards for length and height. GH has been widely used to treat short stature with or without GH deficiency (GHD).Objective and hypotheses: The purpose of the present study was to clarify the effectiveness of GH therapy on short stature in achondroplasia.Method: The ...

Purpose: Metabolic syndrome (MetS) is a state of chronic inflammation, and high-sensitivity C-reactive protein (hsCRP) indicates inflammation. This paper evaluates the association between hsCRP and MetS and its components in Korean children and adolescents.Methods: We analyzed the data of 1,247 subjects (633 males, 14.2 ± 2.7 years) from the Korea National Health and Nutrition Examination Survey (KNHANES) 2016-2017. T...

Background: Currently, little information is available on current growth status according to birth weight at gestational age (BWGA) on Korean adolescents. Herein, the current height and weight of Korean adolescents who were born as small for gestational age (SGA) were compared to those of the non-SGA groups.Methods: Data from the population-based nationwide Korean survey 5th Korea National Health and Nutrition Examinatio...

Acnathosis nigricans (AN) is known to be common dermatologic manifestation in obese children and adolescents. The aim of this study is to examine the association of AN and insulin resistance in obese children and adolescents. One hundred seventy-nine obese subjects aged 6-17 years who participated in the intervention study, Childhood and Adolescents Obesity via Activity and Nutrition (ICAAN) study, were enrolled in 2017-2017. AN was diagnosed by physician. Anthropomet...