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: 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...

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: 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: 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...

Background: Cushing disease defined as hypercortisolism due to pituitary adrenocorticotrophic hormone (ACTH) secreting adenoma is a very rare disease, especially in childhood and adolescence. The purpose of this report is to follow up Cushing disease patient who presented with osteoporosis, rapid weight gain, decreased growth rate, and relapsing pituitary adenoma after transsphenoidal adenomectomy (TSA).Case: A 17-years-old boy visited our hospital for e...

Background: Acquired QT prolongation can be caused by electrolyte abnormality, myocarditis, cerebrovascular disease, drug intoxication and hormonal disorders such as hypopituitarism, hypothyroidism, and adrenal insufficiency.Case presentation: We describe a 14-year-old boy with hypopituitarism after trans-sphenoidal surgery (TSS) due to suprasellar mass who manifested bradycardia and QT prolongation on electrocardiogram. This subject complained of blurre...

Objective: Prader-Willi syndrome (PWS) is a complex genetic disease associated with hypothalamic-pituitary dysfunction, severe obesity and metabolic dysfunctions. The aim of this study was to describe endocrine and metabolic profiles in PWS children and young adults.We also investigated the differences in clinical outcomes according to genotype.Methods: Data of 64 children and adults with genetically verified PWS aged mo...

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...