ESPE Abstracts

Background: Hypothyroidsim is known to be associated with liver function, cholesterol and some hormone levels including GH. But, there are fewer reports about the gonadotropin levels in thyroid dysfunction.Objectives and hypotheses: We report here some interesting laboratory findings in a 19.24-year-old severe short stature female case of ectopic thyroid.Methods: Laboratory investigations including the combined anterior pituitary f...

Background: Congenital hyperinsulinism is the most common cause of persistent hypoglycaemia in neonates and children. It is important to minimize recurrence of episodes of hypoglycaemia. In some cases, Hypoglycemia was not controlled even after near total pancreatectomy.Objective and hypotheses: To study the glycemic response of sirolimus in patients with hyperinsulinemic hypoglycaemia that was not responsive to octreotide and calcium channel blocker aft...

Introduction: The Kiss1/Kisspeptin/Kiss1r system is essential for puberty onset and reproductive system development, especially in the hypothalamus. Nevertheless, Kiss1 is expressed in other organs. Additionally, serum kisspeptin has been associated with puberty. However, studies on the developmental changes in serum kisspeptin levels and its main source are limited. Therefore, the aim of this study was to evaluate the developmental ...

Background: Prader-Willi syndrome (PWS) is a genetic disorder associated with developmental delay, obesity, and obsessive behavior related to food consumption. Treatment options for weight control in those patients is limited and there are controversies for a surgical approach. Saxenda® (liraglutide) injection 3 mg is indicated as an adjunct to a reduced-calorie diet and increased physical activity for chronic weight management in adult patients with obes...

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...

Background: Genetics plays a strong role in height. However, for most patients, no cause for the short stature can identified. Whole-exome sequencing (WES) is becoming an increasingly important tool for detecting novel genetic causes of short stature. Blood is the preferred DNA source for germline studies using WES. However, DNA from saliva is a more convenient and cost-effective alternative.Objectives: We aim to identif...

Purpose: To examine the association of Insulin-like growth factor-1 (IGF-1) and binding protein-3 (IGFBP-3) with metabolic parameters of childhood obesity and assess its relationship with the presence of metabolic syndrome (MetS)Methods: A cross-sectional study of total 307 children and adolescents referred for growth assessment was performed. Subjects were divided into three groups based on body mass index (BMI) percent...

Purpose: This study aimed to describe gene mutations and growth outcome in patients with 21-hydroxylase deficiencyMethods: Subjects were diagnosed as 21-hydroxylase deficiency by direct Sanger sequencing or multiple ligation-dependent probe amplification analysis and visited Pusan National University Children's Hospital from July 2008 to April 2019.We investigated the genotype, phenotype and growth profiles.<p cl...

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...