hrp0089p2-p276 | Growth & Syndromes P2 | ESPE2018

Earlier Mother’s Age at Menarche is a Risk Factor of Daughter’s Early Menarche and Short Stature in Young Korean Female: Epidemiologic Study

Lim Jung Sub , Hwang Jin Soon

Objective: To investigate whether earlier mother’s age at menarche is a risk factor of daughter’s early menarche, obesity, and short stature in young Korean female.Research design and methods: We tested associations between mother’s age at menarche, mother’s adult body size and her daughter’s age at menarche, body size from the data of 6th Korea National Health and Nutrition Examination Survey (KNHANES VI) (2013–2015). We an...

hrp0089p1-p204 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

Whole-exome Sequencing Identifies Novel Pathogenic Variants in Korean Families with Central Precocious Puberty

Lee Hae Sang , Hwang Jin Soon

Objective: Central precocious puberty (CPP) is characterized by the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Early activation of hypothalamic-gonadal axis is influenced by both environmental and genetic factors. Especially, genetic factors have critical role of pubertal progression, but mutations associated with CPP have only been discovered in three genes: KISS1, KISS1R, and MKRN3. The aim of thi...

hrp0082p3-d3-951 | Puberty and Neuroendocrinology (1) | ESPE2014

Impact of Different Doses of Bisphenol-A on the Puberty of Female Rats

Linqi Chen , Fan Yang , Meifang Jin

Objective: To observe vaginal opening day (VOD), hypothalamic kiss-1 gene and ovarian estrogen receptors (ER) gene expression level changes in neonatal rats exposure to different doses of bisphenol-A(BPA).Methods: Neonatal female SD rats were randomly divided into six groups: control group, vehicle group, 17β-estradiol group (17β-estradiol, E2,10 μg/kg per day), low-dose BPA group (25 μg/kg per day), medium-dose BPA group (50 μg/...

hrp0092p1-216 | GH and IGFs (1) | ESPE2019

Birth Anthropometry with Cord Blood Insulin-Like Growth Factor 1 and Leptin in Korean Appropriate-For-Gestational-Age Infants Born at ≥28 Weeks' Gestation

Kang Seok Jin , Kim Se Jin , Lee Ga Hyun , Kim Heung Sik

Background: We investigated the relationship of birth anthropometry with cord blood insulin-like growth factor 1 (IGF-1) and leptin levels in Korean infants born at ≥28 weeks' gestation.Methods: One hundred five appropriate-for-gestational-age (AGA) infants, defined as infants with birth weights (BWs) between the 10th and 90th percentiles for gestational age, were enrolled. Enrolled infants were stratified into...

hrp0092p1-217 | GH and IGFs (1) | ESPE2019

Association Between Nonalcoholic Fatty Liver Disease and Growth Hormone Deficiency in Patients with Childhood-Onset Hypopituitarism

Kim Se Jin , Kim Heung Sik , Lee Ga Hyun , Kang Seok Jin

Background & Aims: Although, there has been reports demonstrating association between adult-onset hypopituitarism and development of nonalcoholic fatty liver disease (NAFLD), studies are lacking regarding the development of NAFLD in children and young adult with childhood-onset hypopituitarism. We aimed to identify association between NAFLD and hypopituitarism in these patients.Methods: 76 Korean children and young a...

hrp0092p2-24 | Adrenals and HPA Axis | ESPE2019

Adult Height and Growth Pattern in Patients with Classic Congenital Adrenal Hyperplasia

Lee Ga Hyun , Kim Se Jin , Kang Seok Jin , Kim Heung Sik

Background: Congenital adrenal hyperplasia (CAH), mostly caused by 21-hydroxylase deficiency, is autosomal recessive disorder characterized by impaired cortisol synthesis. It can be presented with a combination of aldosterone and cortisol deficiency and androgen excess. Therefore, excess production of androgen and glucocorticoid replacement can result to early bone maturation and ultimately diminished adult height (AH).Objectives...

hrp0092p2-276 | Thyroid | ESPE2019

Novel Thyroid Hormone Receptor β-Gene Mutations in Resistance to Thyroid Hormone

Kim Heung Sik , Kim Se Jin , Kim Ga Hyun , Kang Seok Jin

The syndrome of resistance to thyroid hormone (RTH) is caused by decreased tissue responsiveness to thyroid hormone. With the exception, inheritance of RTH is autosomal dominant. The receptors are encoded by two genes (THRA and THRB), each of which undergoes alternate splicing to generate receptor subtypes (TRa1, TRβ1, and TRβ2), with differing tissue distributions.Here we describe a child with novel heterozygous mutations for THRB. Nine-months-old ...

hrp0084p3-1246 | Turner | ESPE2015

Turner Syndrome with Breast Development: Case Report

Park Sung Won , Cho Sung Yoon , Kim Jinsup , Huh Rimm , Kim Su Jin , Jin Dong-kyu

Introduction: Turner syndrome (TS) is caused by monosomy or structural abnormalities of the X chromosome, with a prevalence of out 1/2500 females live birth. Most important clinical features of TS are short stature and gonadal failure. Approximately one third of girls with TS may undergo spontaneous puberty. Here we report a case of a variant TS with breast development.Case report: A 9-year-old girl was referred to our paediatric endocrinology outpatient...

hrp0084p1-18 | Bone | ESPE2015

Response to Vitamin D Replacement is Determined by Body Surface Area in Children with Vitamin D Deficiency

Chung In Hyuk , Kang Yu Sun , Yoo Eun-Gyong

Background: The serum 25-hydroxyvitamin D (25OHD) levels are known to be lower in obese children, probably due to sequestration of vitamin D in the adipose tissue. However, there is no consensus on the dose adjustment for vitamin D supplementation in obese children with vitamin D deficiency (VDD).Aims: To compare the response to vitamin D replacement in normal weight vs overweight children with VDD, and to investigate the determinant for increment of 25O...

hrp0084p3-1241 | Turner | ESPE2015

Renal Problems in Early Adult Patients with Turner Syndrome

Chung Woo Yeong , Oh Seung Hwan , Yu Dong Uk

Introduction: The prevalence of renal anomalies in Turner syndrome (TS) has been reported to vary from 30 to 70%. However, the influence of renal anomalies on renal function and morbidity have been less well investigated. We evaluate the status of renal function and the presence of urinary abnormalities in early adult TS patients.Patients and method: Sixty-three girls with TS, who are attending Pediatric Endocrine Clinics in Busan Paik Hospital, were stu...