ESPE Abstracts

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...

Introduction: Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by unilateral lipomatosis and ipsilateral neurologic/ophthalmic malformation. Jaffe–Campanacci syndrome (JCS) is characterized by the association of café-au-lait spots, axillary freckles, multiple non-ossifying fibromas of the long bones and jaw. Both of ECCL and JCS was associated neurofibromatatosis type 1. We had a case of GH deficiency with combined ECCL and ...

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...

Background: Precocious puberty (PP) is associated with psychological and behavioral problems. However, little is known about body image and psychological features in girls with PP, being treatment with GnRH analogues.Objective and hypotheses: This study aimed to evaluate the perception of body image and self-esteem in girls with PP, were receiving GnRH analogue therapy.Method: From March to August 2013, 82 girls with PP with GnRH a...

Background: Interleukin-6 (IL-6) is a proinflammatory cytokine associated with obesity, insulin resistance, hypertension, and atherosclerosis in adulthood. Few studies have been conducted in healthy young children. We aimed to investigate whether IL-6 levels are associated with cardiometabolic risk factors in healthy 4-year-old children.Methods: From a prospective cohort study named Environment and Development of Children (EDC) cohort, a total of 421 sin...

Prolactinoma is most common functioning pituitary adenoma(50%). However, there have been limited studies for prolactinoma in adolescents. Pituitary adenomas are uncommon in childhood and adolescence (<3% of childhood supratentorial tumors, 3–6% of all surgically treated adenomas). The aim of this study is to assess the characteristics of Korean adolescents with prolactinoma and their clinical course. This study is retrospective cohort study. Patients diagnosed with pr...

Background: Fetuin-A plays a role in insulin resistance and cardiovascular disease.Objective and hypotheses: The aim of present study was to determine the relation between fetuin-A levels and caridiometabolic risk factors and to investigate effect of serum fetuin-A to insulin sensitivity indices for determining whether fetuin-A is additional marker of insulin resistance in prepubertal children.Method: Ninety-nine prepubertal Korean...