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...

hrp0095p2-183 | Growth and Syndromes | ESPE2022

First Korean case of a novel ZC4H2 mutation in Wieacker-Wolff syndrome with recurrent hypoglycemia

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

Wieacker-Wolff syndrome, first described in 1985, is a rare congenital syndrome caused by ZC4H2 mutation reported in 9 family and 6 sporadic cases to date. It is an X-linked recessive disorder characterized by congenital joint contractures, mental retardation, progressive neurologic muscular atrophy, scoliosis, and hypoglycemia. A nine-year-old boy with brain atrophy, mental retardation, scoliosis, developmental dysplasia of the hip, convulsions, and exotropia presented to our...