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...

hrp0095p2-37 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

A rare case of childhood hypophosphatasia presenting with fibrous dysplasia

Jeon Jaesung , Lee Jun , Young Yoon Ju , Kun Cheon Chong

Objectives: Hypophosphatasia (HP) is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without a mineralized bone to early loss of teeth without bone symptoms. We aimed to report a patient with HP presenting with fibrous dysplasia.Methods:</st...

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...

hrp0095p2-176 | Growth and Syndromes | ESPE2022

A case of 1q21 recurrent microdeletion syndrome with growth hormone deficiency, facial dysmorphism, and microcephaly

A Kim Hyun , Kim Jinsup , Ju Lee Hyun , Yang Aram

1q21.1 recurrent microdeletion syndrome is a rare chromosomal disorder caused by a genetic abnormality of non-allelic homologous recombination in the sequence of flanking a copy number variation event during meiosis. The characteristic features of 1q21 microdeletion syndrome are dysmorphic facial appearances with microcephaly, and mild to moderate developmental delay of speech and motor, eye abnormality, short stature, skeletal malformation, and psychiatric and behavioral diso...

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...

hrp0092fc3.5 | Multi-system Endocrine Disorders | ESPE2019

Evaluation of Endocrine Late Effects in Survivors of Childhood Allogeneic Hematopoietic Stem Cell Transplantation in Australia – Database from 1985 to 2011

Lai-Ka Lee Samantha , Tiedemann Karin , Zacharin Margaret

Background: With improved survival of childhood allogeneic hematopoietic stem cell transplant (HSCT), there is increasing need for surveillance, including assessment of endocrine late effects in this cohort1,2.Aim: To evaluate endocrine late effects after chemotherapy and radiation in survivors of childhood allogeneic HSCT.Methods: Multi-site evaluation via medical recor...

hrp0092p2-241 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Effect of Gonadotropin-Releasing Hormone Agonist Treatment on Final Adult Height in Boys with Idiopathic Central Precocious Puberty

Kim Eun Young , Yi Kyung Hee , Lee Jae Hee

Purpose: Central precocious puberty (CPP) is less common in boys than girls; very little data is reported on long-term effects of gonadotropin-releasing hormone analog (GnRHa) treatment in boys with CPP. The aim of the study was to evaluate the impact of treatment with GnRHa on adult height (AH) and body mass index (BMI) in boys with idiopathic CPP.Subjects and Methods: In 18 boys with confirmed diagnosis of idiopathic C...

hrp0092p3-174 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Population Prevalence of Down's Syndrome and Cardiac Complications in South Korea: Based on National Health Insurance Service (NHIS)

Lee Na yeong , Cho Won Kyoung , Suh Byun-Kyu

Backgrounds: There is a no reliable population-based prevalence data of Down's syndrome (DS) in South Korea. In the present study, we try to estimate the incidence and prevalence of DS and cardiac complications in South Korea using data of National Health Insurance Service (NHIS) data and Rare Diseases Registry.Methods: We collected the data on DS patients who registered in the Rare Diseases Registry (RDR) between 20...