hrp0082p2-d1-520 | Pituitary | ESPE2014

Hypothalamic Obesity in Children with Craniopharyngioma: Prevalence and Risk Factors of Obesity and Longitudinal Trends of BMI

Cho Ja Hyang , Kim Ja Hye , Kim Yoo-Mi , Choi Jin-Ho , Yoo Han-Wook

Background: Craniopharyngioma is the most common parasellar tumor in childhood arising from remnants of Rathke’s pouch. As the hypothalamus plays a vital role in regulation of body weight by balancing energy intake and expenditure, hypothalamic damage by structural lesions is one of the most common causes of hypothalamic obesity. This study investigated prevalence, risk factors for the development of hypothalamic obesity, and consequent morbidities in children following t...

hrp0082p3-d3-949 | Puberty and Neuroendocrinology (1) | ESPE2014

The Perception of Body Image and Self-Esteem in Girls with Precocious Puberty, Being Treatment with GnRH Analogue

Kim Eun Young , Choi Min Sun , Kim Se Young , Hwang Il Tae

Background: Precocious puberty (PP) is associated with psychological and behavioral problems. However, little is known about body image and psychological features in girls with PP, being treatment with GnRH analogues.Objective and hypotheses: This study aimed to evaluate the perception of body image and self-esteem in girls with PP, were receiving GnRH analogue therapy.Method: From March to August 2013, 82 girls with PP with GnRH a...

hrp0095p1-480 | Fat, Metabolism and Obesity | ESPE2022

Clinical symptom and sequence variations in patients with sitosterolemia

Kyung Jung Mo , Rhie Seonkyeong , Kim Mira , Hun Seo Go , Choi Man-ho , Yoo Eun-Gyong

Backgrounds: Sitosterolemia is an inborn error of sterol metabolism caused by pathogenic variation of ABCG5 or ABCG8. It is characterized by increased plant sterol levels, xanthomas, and accelerated atherosclerosis; however, it is likely to be underdiagnosed in the clinical field. This study aims to describe the genetic variance of clinically confirmed patients with sitosterolemia and analyze the clinical spectrum according to genetic variance.<p class="ab...

hrp0095p2-275 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A female with 46,XX gonadal dysgenesis presenting with hypergonadotropic hypogonadism and normal height

Ju Choi Young , Jeong Jang Min , Young Cho In , Ho Jung Min , Suh Byung-Kyu

Introduction: Genes on the X chromosome (BMP15, FMR1) and autosomal chromosomes (FOXL2, RSPO1, WNT4) are known to influence ovarian development. 46,XX gonadal dysgenesis is a rare disease caused by chromosomal abnormalities, genetic mutations, and postnatal ovarian damage, leading to premature ovarian failure.Case Report: A 16-year-old female presented with primary amenorrhea and poor breast development. She was born at ...

hrp0092p2-209 | Multisystem Endocrine Disorders | ESPE2019

Endocrine Complications of Patients with Hepatic Type of Glycogen Storage Disease

Lee Yena , Kim Yoo-Mi , Oh Arum , Kim Gu-Hwan , Hee Lee Beom , Choi Jin-Ho , Yoo Han-Wook

Background: Glycogen storage disease (GSD) is an inherited metabolic defect of metabolic defect of glycogenolysis and gluconeogenesis. Patients with GSDs are associated with endocrine abnormalities such as short stature, delayed puberty, fasting hypoglycemia, and dyslipidemia. In addition, patients with GSD 1b are also at risk of autoimmune hypothyroidism. Therefore, this study was performed to investigate endocrine complications in patients with GSD.<p cl...

hrp0092p2-218 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

The Difference of Body Mass Index (BMI) Score Before and After Gonadotropin-Releasing Hormone Agonist (GnRHa) Treatment in Central Precocious Puberty Girls

Choi Yujung , Lee Seonhwa , Kim Seulki , Ahn Moonbae , Kim Shinhee , Cho Wonkyoung , Cho Kyoungsoon , Jung Minho , Suh Byungkyu

Purpose: We investigated the difference of body mass index (BMI) score before and after gonadotropin-releasing hormone agonist (GnRHa) treatment in central precocious puberty girls (CPP).Methods: Medical records of 188 girls with CPP treated with GnRHa were reviewed. All patients completed the therapy. The patients were categorized into two groups according to initial BMI; normal weight group (BMI < 85 percentile) an...

hrp0089p2-p366 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Genetic Etiologies and Gender Outcomes of Patients with Disorders of Sex Development Presenting with Asymmetric Gonads

Oh Arum , Kim Yoon-Myung , Hun Seo Go , Kim Gu-Hwan , Choi Jin-Ho , Yoo Han-Wook

Purpose: Patients with mixed gonadal dysgenesis (MGD) and ovotesticular disorders of sex development (DSD) usually present with asymmetric gonads. Differential diagnosis of these conditions is based on karyotype and pathological findings of gonads. However, it is difficult to determine sex of rearing and to predict long-term outcomes. This study investigated the clinical features, karyotype, sex of rearing, and pubertal outcomes of patients with MGD and ovotesticular DSD.<...

hrp0089p2-p392 | Thyroid P2 | ESPE2018

Clinical Characteristics and Predictive Factors for the Detection of Thyroid Cancer in Children with Thyroid Nodules

Suh Junghwan , Choi Han Saem , Kwon Ah Reum , Chae Hyun Wook , Kim Duk Hee , Kim Ho-Seong

Thyroid nodules in children are less common than adults. However, pediatric thyroid nodules have higher rate of malignancy compared with adults, and also have increased risk of metastasis and recurrence. In this study, we analyzed clinical features, laboratory findings, and thyroid ultrasound (US) of children with thyroid nodules to determine predictive factors of thyroid cancer. Total 268 patients under 18 years of age with thyroid nodule whom visited Severance Children’...

hrp0084p2-189 | Adrenals | ESPE2015

The Aetiological Spectrum of Congenital Adrenal Hyperplasia Based on Molecular Genetic Analyses

Choi Jin-Ho , Kim Ja Hye , Kang Eungu , Cho Ja Hyang , Kim Gu-Hwan , Yoo Han-Wook

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...

hrp0084p2-528 | Puberty | ESPE2015

Correlation of Clinical Phenotype and Genotype of Prader-Willi Syndrome and the Deletion of Paternal MKRN3 Allele in PWS Patients with Central Precocious Puberty

Cho Ja Hyang , Kang Eungu , Choi Jin-Ho , Kim Gu-Hwan , Seo Eul-Ju , Yoo Han-Wook

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...