ESPE Abstracts

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: Maturity-onset diabetes of the young (MODY) is one of monogenic diabetes caused by a single gene defect. To date, 13 MODY genes have been identified. However, there is big discrepancy in genetic locus between the Asian MODY patients and Caucasian’s one.Objective and hypotheses: We conducted the whole exome sequencing in Korean clinical MODY families to identify novel variants for MODY and compare the result with Caucasian’s one....

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...

Objectives: This study aimed to evaluate the long-term safety and effectiveness of recombinant human growth hormone (rhGH) (Eutropin® Inj.., Eutropin®Pen Inj., Eutropin®AQ Inj., and Eutropin®Plus Inj., LG Chem, Ltd.) based on the interim analysis of a 7-year accumulated data of the LG Growth Study (LGS) in Korean pediatric patients with growth disorders including growth hormone deficiency (GHD), T...

Objectives: This study was performed to evaluate effectiveness on near-adult height (NAH) and safety of recombinant human growth hormone (rhGH) (Eutropin® Inj., Eutropin®Plus Inj., Eutropin®AQ Inj., LG Chem, Ltd.) treatment in children with growth hormone deficiency (GHD) and Turner syndrome (TS).Methods: The LG Growth Study (LGS) is a multicenter, long-term, observational study designed to evaluate the lon...

Introduction: Serum glycated albumin (GA) is a glycemic marker reflecting the average serum glucose values for the previous 2 weeks. The purpose of this study was to evaluate the usefulness of serum GA as a glycemic index complementing glycosylated hemoglobin (HbA1c) in children and adolescents.Methods: Fifty-four children and adolescents with diabetes mellitus (DM) and 98 children and adolescents without DM (Non-DM) wer...

Introduction: Primary polydipsia is rare during adolescence and is known to be associated with psychiatric disorders or psychological stress. Differential diagnosis includes endocrine, neurologic, renal, and iatrogenic causes.Case Report: A 14-year-old male presented with polydipsia and polyuria that persisted for 6 years. His fluid intake was about 9 liters a day and he woke up for voiding once or two times every night....