hrp0092p2-282 | Thyroid | ESPE2019

Treatment for Graves' Disease in Children and Adolescents: A Long-Term Retrospective Study at a Single Institution

Kim Min-Sun , Song Ari , Park Hyojung , Cho Sung Yoon , Jin Dong-Kyu

Background: Management options are limited for the treatment of Graves' disease (GD) in children and adolescents. Antithyroid drugs (ATDs) remain the first-line therapy in patients with GD, despite a high relapse rate. We investigated the clinical characteristics, treatment, the outcome, and predictors of a remission of children and adolescents with GD at a single center.Methods: We retrospectively reviewed the medic...

hrp0089lb-p19 | Late Breaking P1 | ESPE2018

Characterization and Clinical Course of Prolactinoma in Korean Adolescents

Yang Aram , Im Minji , Song Ari , Kim Jinsup , Shin Hyung-Jin , Park Hwan-Hee , Cho Sung Yoon , Jin Dong-Kyu

Prolactinoma is most common functioning pituitary adenoma(50%). However, there have been limited studies for prolactinoma in adolescents. Pituitary adenomas are uncommon in childhood and adolescence (<3% of childhood supratentorial tumors, 3–6% of all surgically treated adenomas). The aim of this study is to assess the characteristics of Korean adolescents with prolactinoma and their clinical course. This study is retrospective cohort study. Patients diagnosed with pr...

hrp0089lb-p13 | Late Breaking P1 | ESPE2018

Clinical and Endocrine Characteristics and Genetic Analysis of Korean Children with McCune–Albright Syndrome

Cho Eun-Kyung , Im Minji , Kim Jinsup , Yang Aram , Song Ari , Ki Chang-Seok , Lee Ji-Eun , Cho Sung Yoon , Jin Dong-Kyu

McCune-Albright syndrome (MAS) is a rare disease defined by the triad of precocious puberty (PP), café au lait spots, and fibrous dysplasia (FD). There are only a few patients with MAS in Korean because of the rarity of this disease. We reported the various clinical and endocrine manifestations and genetic analysis of 14 patients with MAS in Korea. It is a retrospective cohort study of patients’ clinical data including about peripheral PP, FD. Also, treatment experie...

hrp0092p3-34 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Study of Response to Vitamin D Replacemet in North Korean Refugee Children and Korean Children

Hee Chung Myung , Hup Song Jung

Study of response to vitamin D replacemet in North Korean refugee children and Korean childrenMyung Hee Chung, MD., Ph.DDaegu Medical Center, Daegu Metropolitan city, KoreaJung Hup Song, MD., Ph.DKyungpook National university hosptal,Occupational Medicine, Public Health Dept.,Daegu, KoreaPurpose: It is well known that obesity and ...

hrp0089p3-p412 | Growth &amp; Syndromes P3 | ESPE2018

Novel Mutation of CHD7 in a Chinese Boy with Kallmann Syndrome

Yemei Song

Kallmann syndrome (KS) is a rare heterogeneous disease with hypogonadotropic hypogonadism and anosmia or hyposmia. The aim of this study is to highlight the clinical features and diagnosis of this rare event by reporting a 13-year-old Chinese boy with a novel mutation of CHD7. He presented because of short stature (−2.0 SD) for 11 years. He was born at term with a birth weight of 2.95 kg. Cryptorchidism operation was undertaken at 5 years old. He suffered from a...

hrp0095p2-34 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Optimal 25-OH-Vitamin D level in children derived from metabolic parameters

Gillis David , Hefter Ari , Edri Edri Shalom , Strich David

Context: Optimal levels of 25-OH-Vitamin D (25OHD) for children are unknown. Prevalent population levels of 25OHD are likely to be sub-optimal since sun exposure is reduced in modern living.Objective: To deduce recommended levels of 25OHD by testing, in children, the level at which 25OHD optimally effects calcium, phosphate and parathyroid hormone levels in a population-based data.Design:</...

hrp0094p2-82 | Bone, growth plate and mineral metabolism | ESPE2021

Vitamin D - What is the Optimal Level in the Pediatric Population

Gillis David , Hefter Ari , Edri Shalom , Strich David ,

Introduction: The optimal level of 25-OH-Vitamin D in children is not clear since most studies have been performed on adults. Creating normal levels is problematic since the recommended level of vitamin D is based on the effect of vitamin D on other parameters and not upon its level in the population.Methods: This is a "big-data" study in which we analyzed Vitamin D tests from 49,935 children sampled in Clalit He...

hrp0097p2-34 | Fat, Metabolism and Obesity | ESPE2023

Case Report: Massive Obesity secondary to a Homozygous MC4R mutation in a 3-year-old Boy

Gillis David , Hefter Ari , Edri Edri Shalom , Strich David

We present a 3-year-old boy with massive obesity and hyperphagia. His appetite symptoms were evident from age 3 months, and his parents report he has an insatiable appetite, and seeks food constantly. At presentation to our clinic, his BMI was 37.21 Kg/m² [+ 6.87 SDS]. Sleep apnoea is suspected, for which he is undergoing evaluation. Parents are second cousins. Both parents are moderately obese, but his siblings are normal weight for age. The mother did not have a history...

hrp0092p1-263 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Clinical and Molecular Characteristics, Genotype-Phenotype Correlation in 113 Chinese Children with SRD5A2 Gene Mutations

Fan Lijun , Gong Chunxiu , Song Yanning

Objective: Studies on 5α-reductase type 2 deficiency (5α-RD) are limited and the genotype-phenotype correlation has not been elucidated. The aim of the study was to analyze clinical and molecular characteristics, genotype-phenotype correlation in a large Chinese 5α-RD cohort.Design: Database registration study.Method: We analyzed clinical and genetic data of gene con...

hrp0082p2-d2-467 | Growth (1) | ESPE2014

The Effect of the Environmental Factors on Growth Pattern of Turkish Children Having the Same Genetic Origin

Yuca Sevil Ari , Cesur Yasar , Kurtoglu Selim , Mazicioglu Mumtaz Mustafa , Cimbek Emine Ayca

Background: Childhood is a dynamic process with continuous growth and development. Growth charts are essential for the assessment of children’s health status. Standards previously established in children aged 6–18 years, according to percentile curves are used in Turkey.Objective and hypotheses: To determine the effect of different environmental factors on growth of children with the same genetic origin. We investigated the parameters of growth...