ESPE Abstracts

Background: The phenotypic manifestations in the 45,X/46,XY karyotype is diverse and there are challenges in management due to this diversity.Objective and hypotheses: The aim of this study was to describe the clinical spectrum of 45,X/46,XY mosaicism and variants diagnosed in childhood.Method: A retrospective review of 20 patients with 45,X/46,XY (n=7) and its variants ((45,X/46,X,der(Y) (n=12)) and 46,X,der(X),t...

Background: Kallmann syndrome is the most common form of hypogonadotropic hypogonadism and is associated with genes such as KAL1, KAL2, CHD7, NELF, PROK2, and PROKR2. Genetic factors in hypopituitarism are involved with the gene mutation of PROP1, POU1F1, HESX1, LHX3, LHX4, and PTX2. We found a novel mutation of the AVP gene in a Kallmann syndrome patient with hypopituitarism.Case presentation: The pa...

Background: Relative adrenal insufficiency (RAI) may be associated with neonatal adrenal hemorrhage (AH).Objective and hypotheses: The purpose of this study was to investigate the usefulness of ultrasonography for detecting AH in steroid treated neonates with RAI.Method: A retrospective analysis of 52 corticosteroid-treated patients with RAI at a neonatal intensive care unit of a tertiary center from January 2006 to April 2014 was ...

Background: Simple goitre (SG) and autoimmune thyroid disease (AITD) are the two most common causes of goiter in children.Objective and hypotheses: The prevalence of thyroid dysfunction, AITD, and SG at the time of goiter diagnosis was investigated. The natural course of SG was studied and factors related to the development of AITD and/or thyroid dysfunction were analysed.Method: A retrospective review of 1,225 patients (1071 femal...

Objectives: This study aimed to analyze dosing patterns of recombinant human growth hormone (rhGH) (Eutropin® Inj\., Eutropin®Pen Inj., and Eutropin®AQ Inj. for daily injection, and Eutropin®Plus Inj. for weekly injection, LG Chem, Ltd.) using the collected data of the LG Growth Study (LGS) in Korean pediatric patients with growth disorders including growth hormone deficiency (GHD), idiopathic sho...

Objectives: This study aimed to evaluate the safety and effectiveness of rhGH treatment, using specific products (Eutropin®, Eutropin®Pen, Eutropin®AQ, Eutropin®Plus and Eutropin®SPen; LG Chem, Ltd.), in pediatric patients with growth disorders in Korea.Methods: Among the patients who enrolled in LGS (2012–2022, n=5,120), patients received at least one injection of rhGH were included fo...

Hypophosphatasia (HPP) is a genetic skeletal disease caused by loss-of-function mutations of ALPL encoding tissue-nonspecific alkaline phosphatase (TNSALP). The clinical presentation of HPP varies greatly, ranging from stillbirth without bone mineralization to findings in later life, such as delayed walking, short stature, skeletal deformities, bone pain, and pathologic fractures. The diagnosis is based on clinical examination, radiographic findings, biochemical parameters of ...

Purpose: Growth hormone (GH) treatment has become common practice in Turner syndrome (TS) to improve final adult height. However, there are only a few studies on the analysis of good responders to GH treatment in TS. The aim of this study is to predict the responsiveness to growth hormone therapy in Turner syndrome.Methods: Among 197 TS patients registered in LG Growth study, 92 patients were excluded because of systemic illness or hypothyroidism. The cl...

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...

Purpose: Our previous study showed no correlation between -202 A/C IGFBP-3 promoter polymorphism and Δheight SDS in children with growth hormone deficiency. We investigated the influences of the -202 IGFBP-3 polymorphism on 1-year follow-up outcomes of GH treatment in Korean children with ISS.Methods: Data was obtained from 81 children with idiopathic short stature (peak serum growth hormone (GH) ≥ 7.0 ng/mL b...