hrp0089p2-p365 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Prospective Investigation of the Influence of Triptorelin Treatment on Body Weight and Body Mass Index of Girls Who Were Diagnosed with Idiopathic Precocious Puberty or Early Puberty

Kang Seokjin , Shim Yejee , Sik Kim Heung

Background: Gonadotropin-releasing hormone agonists (GnRHa) have been widely used to treat patients with central precocious puberty (CPP). Several studies have investigated changes in body composition in patients with CPP following GnRHa treatment. But the results are inconsistent. This study aimed to investigate the influence of GnRHa treatment on the weight and body mass index (BMI) of girls who were diagnosed with idiopathic CPP or early puberty (EP)....

hrp0095p1-592 | Thyroid | ESPE2022

Development of delayed thyrotropin elevation in small-for-gestational-age infants: Is a second screening needed?

Kang Seokjin , Yun Park So , Lee Donghyun , Sik Kim Heung

Purpose: Recent reports indicate that being small for gestational age could be a risk factor for delayed thyroid stimulating hormone (TSH) elevation (dTSH) in preterm infants. Very few studies have investigated the development of delayed thyroid stimulating hormone elevation in small-for-gestational-age late-preterm infants with a gestational age of 34–36 weeks.Methods: We retrospectively included 70 small-for-gest...

hrp0095p2-106 | Fat, Metabolism and Obesity | ESPE2022

Identification of a novel point mutation in APOB gene in a patient with hypobetalipoproteinemia

Yun Park So , Sik Kim Heung , Lee Donghyun , Kang Seokjin

Familial hypobetalipoproteinemia (FHBL) is an autosomal codominantly inherited disorder of lipid metabolism characterized by <5th percentile plasma levels of LDL cholesterol or total apolipoprotein B (apoB). LDL cholesterol level is usually between 20-50 mg/dL. FHBL results from mutations in APOB, PCSK9 gene. Patients with homozygous APOB-related familial hypobetalipoproteinemia (APOB-FHBL) may have symptoms of fat malabsorption, steatorrhea, diarrhea, failure to thrive, de...

hrp0095p2-286 | Thyroid | ESPE2022

A Case of Sjogren's Syndrome with systemic involvement combined with exacerbated hyperthyroidism improved after glucocorticoid treatment

Lee Donghyun , Sik Kim Heung , Yun Park So , Kang Seokjin

Background: Sjogren’s syndrome is a systemic autoimmune disease, and it is rare in pediatric population. Primary symptoms are dry mouth and dry eyes. However, it may present with systemic manifestations, involving lungs, liver, kidneys, vasculature, and blood. We report a case of Sjogren's syndrome with systemic involvement in a child with Graves' disease.Case report: A 9-year-old 11-month-old girl presen...

hrp0095p2-296 | Thyroid | ESPE2022

Factors related to permanent congenital hypothyroidism

Sik Kim Heung , Yun Park So , Lee Donghyun , Kang Seokjin

Purpose: The purpose of this study was to retrospectively analyze the clinical, laboratory, imaging findings (sonography and Tc99m-pertechnetate scanning) in patient with congenital hypothyroidism (CH) who completed 3 years of LT4 medication.Method: 86 patients with congenital hypothyroidism were retrospectively reviewed. Medical history, laboratory, radiologic finding at the time of CH diagnosis were evaluated. Correlat...

hrp0086p2-p680 | Growth P2 | ESPE2016

A Case of Growth Hormone Deficiency with Combined Encephalocraniocutaneous Lipomatosis and Jaffe–Campanacci Syndrome

Choi Eun Mi , Shim Ye Jee , Kim Jun Sik , Kim Heung Sik

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 ...