ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by a defect in cortisol biosynthesis. The most common form of CAH is the 21-hydroxylase deficiency (21-OHD), however, the incidence and the etiologic spectrum of other forms of CAH were not reported.Objective and hypotheses: This study describes the etiological distribution and clinical characteristics of CAH in a single academic centre.<p class...

Background: Prader-Willi syndrome (PWS) is caused by the deletion of the paternally-derived 15q11-13 region or the maternal uniparental disomy of chromosome 15 (mUPD(15)). Puberty is usually delayed and central precocious puberty (CPP) is very rare in PWS.Objective and hypotheses: This study was undertaken to correlate clinical features focusing on pubertal progression with genotype with or without MKRN3 deletion to understand the mechanism of C...

Background: Congenital hyperthyroidism is a rare disease. In most patients with congenital hyperthyroidism are autoimmune forms caused by maternal thyroid-stimulating antibodies. In contrast to autoimmune hyperthyroidism that is transient, nonautoimmune form of congenital hyperthyroidism is persistent and results from activating germline mutations in the thyrotropin receptor (TSHR) gene.Case presentation: We report the case of a Korean male infant with s...

Background: Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by hypocalcemia, hyperphosphataemia and Albright hereditary osteodystrophy (AHO), resulting from abnormalities of GNAS.Objective and hypotheses: This study investigated clinical features, outcomes, molecular characteristics of patients with PHP and pseudopseudohypoparathyroidism (PPHP).Method: Thirty one patients (15 males and 16...

Background: Permanent neonatal diabetes mellitus is caused by mutations in the KATP channel subunits. DEND (Developmental delay, Epilepsy, and Neonatal Diabetes) syndrome is the most severe form of permanent neonatal diabetes. We experienced a patient with DEND syndrome, who was initially misdiagnosed as type 1 diabetes, who has been successfully switched from insulin injection to oral sulfonylurea therapy.Case presentation: A 50-day-old male ...

Background: Patients with Marfan syndrome (MFS) presents with primary skeletal manifestations such as tall stature, chest wall abnormality, and scoliosis. And these primary skeletal manifestations affect the growth pattern in MFS. Therefore, it is not appropriate to use normal growth charts to evaluate the growth status of MFS.Objective and hypotheses: We aimed to develop disease-specific growth charts for Korean MFS patients and to use these growth char...

This study aimed to evaluate the long-term safety and effectiveness of recombinant human growth hormone (rhGH; Eutropin®, Eutropin®Pen, Eutropin®AQ, and Eutropin®Plus, LG Chem, Ltd.) treatment in Korean pediatric patients. This observational study has been conducted since 2011, and the data were collected up to August 2021 for interim analysis. The incidence rates of all adverse events (AEs) were assessed for safety a...

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...

Background: Myo-inositol(MI)is a polyol involved in intracellular signaling pathways of insulin and MI has been used orally for therapeutic purposes in girls and adult women with polycystic ovary syndrome(PCOS)with variable success. As yet, serum MI levels have not been assessed in girls with PCOS.Aim: Our primary goal was to compare serum MI levels in girls with PCOS with those in healthy peers. Secondary goal was to in...