hrp0095p1-536 | Multisystem Endocrine Disorders | ESPE2022

A case of septo-optic dysplasia and congenital hypothyroidism in a patient affected by Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome

Vincenzi Gaia , Cavallini Anna , Abbate Marco , Romaniello Romina , Pozzobon Gabriella , Cristina Vigone Maria

Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by a classic triad of optic nerve hypoplasia, agenesis of septum pellucidum and corpus callosum, and hypoplasia of the hypothalamic-pituitary axis. Up to date, a shared consensus is not available and the diagnosis relies mainly on clinical and neuroradiological findings. Even though few genes have been described as responsible for this syndrome, the precise causes of SOD remain unknown and a combination of...

hrp0095p2-36 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

A Novel Variant of PHEX in a Korean Family with X-linked Hypophosphatemic Rickets

Kim Sejin , Kim Sungsoo , Kim Namhee

X-linked dominant hypophosphatemic rickets (XLH) are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations in PHEX. Herein, we report a 39-year-old female with short stature and skeletal deformities and 12-month-old asymptomatic daughter. The woman has a history of multiple surgical treatments because of lower limb deformities. Through additional quest...

hrp0092s4.2 | ISPAD/Complications of Type 1 Diabetes | ESPE2019

Novel Advances in Diabetic Retinopathy Screening and Management

Donaghue Kim

Screening for diabetic retinopathy has been expanded from ophthalmology-based assessments. Retinal photography can be used in primary care by trained photographers, and then graded by trained staff using Telemedicine. Ultrawide retinal cameras can now capture over 80% of the retina from a single image. It may be more predictive of progression to proliferative retinopathy than the traditional views, but cost of equipment for benefit is unclear. There have been advances in D...

hrp0089p1-p241 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

The Comparisons of the Adult Height Gain and the Menarchal Age of the Girls with Central Precocious Puberty after Gonadotropin Releasing Hormone Agonist Alone and Those Treated with Combined Growth Hormone Therapy

Kim Se Young , Kim Minsub

Purpose: To investigate the outcomes of GH therapy combined with GnRH agonist for short girls who diagnosed with idiopathic CPP compared to whom treated with GnRH agonist alone.Methods: We performed retrospective reviews, among 1636 patients managed for CPP, collected data of the 166 girls with CPP treated with GnRHa for 36 months or more from January 2002 to December 2016. We divided groups of patients received GnRHa alone (Group A, n=135) or G...

hrp0092p1-340 | Fat, Metabolism and Obesity (2) | ESPE2019

Secular Change in Waist Circumference and Waist-Height Ratio in Korean Children and Adolescents Over 10 Years and Effort to Identity Optimal Cutoff for Cardiometabolic Risk

Kim Se Young , Kim Jae Hyun

Purpose: The aims of this study were to identify the secular changes of WC and WHR, to compare WC with the prior Korean reference, to confirm the distribution of mean WHR values by age and sex, and to determine if WHR cutoff value of 0.5 is an appropriate predicting factor of cardiometabolic risk in childhood, using nationally representative data in children and adolescents.Methods: We performed a retrospective, cross-se...

hrp0086p2-p946 | Thyroid P2 | ESPE2016

The Aim of This Study was to Recognize Difference between Transient Congenital Hypothyroidism (TCH) from Permanent Congenital Hypothyroidism by Determining Clinical Characteristics, Laboratory Tests and Imaging Studies

Kim Se Young , Kim Min Sub

Methods: We performed retrospective study using database of the patients with congenital hypothyroidism treated with or without Levo-Thyroxine at Bundang Jesaeng General Hospital, from January 1998 to February 2016. Their ages, birth weights, gestational ages, symptoms, ages at diagnosis and treatment were recorded. We measured TSH, free thyroxine (FT4), triiodothyronine (TT3) levels at diagnosis and treatment, and those levels at one, two and three months after treatment. Thy...

hrp0092p1-339 | Fat, Metabolism and Obesity (2) | ESPE2019

Elevated High-Sensitivity C-Reactive Protein Level is Associated with Prediabetes and Adiposity in Korean Children and Adolescents.

Shin Sohyun , Kim Jaehyun

Objectives: Obesity is a chronic low-grade inflammatory condition that increases the risk of cardiovascular disease. Elevated high-sensitivity C-reactive protein (hs-CRP) has been associated with cardiovascular disease, type 2 diabetes, and metabolic syndrome in adults. We investigated whether hs-CRP represents a risk factor for obesity and cardiometabolic diseases in Korean children and adolescents using nationally representative data.<...

hrp0095p2-297 | Thyroid | ESPE2022

Discrimination between transient and permanent congenital hypothyroidism in patients with eutopic thyroid gland

Kim Chan Jong

Introduction: Congenital hypothyroidism (CH) is diagnosed with neonatal screening and treated early in the neonatal period. Among these patients, transient congenital hypothyroidism (TCH) is included and requires re-evaluation. In this study, we aimed to identify factors that would allow discrimination between permanent and transient hypothyroidism in patients with eutopic thyroid gland.Methods: We retrospectively analyz...

hrp0092p1-83 | GH and IGFs | ESPE2019

Identification of Novel Recessive IGFALS Mutations and INSR Variant in an Obese Korean Boy

Kim Yoo-Mi , Lim Han Hyuk , Kim Seon Young

IGFALSgene is located in chromosome 16p13.3 encoding acid labile subunit which binds insulin-like growth factors (IGFs) to increase their half-life and vascular localization. The biallelic defect of this gene leads to acid-labile subunit deficiency characterized by postnatal growth retardation, insulin resistance, delayed puberty, and no growth hormone deficiency. A 5-year-old-boy was referred to as low IGF-1 and cortisol level. He presented with obesity and growth re...