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...

hrp0084p2-544 | Puberty | ESPE2015

Increasing BMI is Associated with Lower Luteinising Hormone Levels in Girls with Central Precocious Puberty at the Early Pubertal Stage

Lee Hae Sang , Kim Eun Young , Hwang Jin Soon

Background: Girls with precocious puberty have high LH levels and bone age was advanced over chronological age by 1 year. Obese children start puberty at an earlier age than non obese children. The mechanisms that cause obese children to grow faster starting from early childhood are not well defined.Objective and hypotheses: We analysed the effects of obesity on luteinising hormone (LH) secretion by using gonadotropin-releasing hormone (GnRH) tests in gi...

hrp0092p2-184 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Effect of Gonadotropin-Releasing Hormone Agonists on Auxological Outcomes of Korean Boys with Central Precocious Puberty and Early Puberty

Lee Hae Sang , Sohn Young Bae , Kum Chang Dae , Hwang Jin Soon , Lim Jung Sub

Objective: To determine the effect of gonadotropin-releasing hormone agonist (GnRHa) treatment on auxological outcome of Korean boys with central precocious puberty (CPP) and early puberty (EP).Methods: This study included 11 boys with CPP and 8 boys with EP who were treated with GnRHa for at least 2 years at the Pediatric Endocrine Unit of Ajou University Hospital from March 2003 to December 2015. All nineteen boys atta...

hrp0086p1-p732 | Pituitary and Neuroendocrinology P1 | ESPE2016

Association between Estrogen Receptor Gene Polymorphisms and Premature Thelarche

Yoon Jong Seo , Lee Hae Sang , Lim Jung Sub , Hwang Jin Soon

Background: Premature thelarche (PT) is a benign, non-progressive condition defined as isolated breast development without the activation of the hypothalamic-pituitary axis. While the pathophysiology of PT remains unclear, increased sensitivity to estrogen may cause PT.Objective and hypotheses: The aim of this study was to investigate the association between polymorphisms in the estrogen receptor alpha (ERĪ±) gene and PT in girls.<p class="abstex...

hrp0086p2-p963 | Thyroid P2 | ESPE2016

The Influence of Etiology and Treatment Factors on Intellectual Outcome in Congenital Hypothyroidism

Yoon Jong Seo , Lee Hae Sang , Lim Jung Sub , Hwang Jin Soon

Background: Congenital hypothyroidism (CH) is the one of the most common preventable cause of mental retardation. Earlier and proper treatment is associated with better intellectual outcomes.Objective and hypotheses: The aim of the present study was to evaluate intellectual outcome of children with diagnosed congenital hypothyroidism (CH) and early onset treatment.Method: We retrospectively reviewed the medical record of 43 childre...

hrp0082p3-d3-789 | Fat Metabolism &amp; Obesity (2) | ESPE2014

Bone Age Advancement in Prepubertal Children with Overweight and Obesity

Lee Hae Sang , Lim Jung Sub , Hwang Jin Soon , Kim Eun Young

Objective: Obesity is associated with bone age (BA) advancement of unclear etiology. In animal study, insulin may directly modulate skeletal growth. Our objective was to investigate the association with BA maturation and insulin levels in children with overweight and obesity.Methods: In this cross-sectional study of 42 prepubertal children, anthropometric data and hormonal values during oral glucose tolerance test were measured. Subjects were divided int...

hrp0082p3-d1-881 | Perinatal and Neonatal Endocrinology | ESPE2014

A Case of Hyperinsulinism/Hyperammonemia Syndrome

Shim Young Suk , Jeong Hwal Rim , Lee Hae Sang , Lim Jung Sub , Hwang Jin Soon

Background: Hyperinsulinism/hyperammonemia (HI/HA) syndrome is a form of congenital hyperinsulinism (CHI) caused by a mutation in the GLUD1 gene. It is characterized by hyperinsulinemic hypoglycemia accompanying hyperammonemia.Objective and hypotheses: We report HI/HA syndrome with a 4-month-old male who hypoglycemic seizure.Method: A 4-month-old male infant presented with seizure caused by fasting-induced hypoglycemia. At the time...

hrp0082p3-d3-947 | Puberty and Neuroendocrinology (1) | ESPE2014

The Etiology of Central Precocious Puberty and Effect of GnRH Agonist for 2 years in Korean Boys

Shim Young Suk , Jeong Hwal Rim , Lee Hae Sang , Lim Jung Sub , Hwang Jin Soon

Background: GnRH agonist (GnRHa) are able to modify natural course of Central Precocious Puberty (CPP) in girls.Objective and hypotheses: We evaluated the etiology and the effect of GnRHa in Korean CPP boys.Method: Total 29 boys diagnosed for CPP from 2007 to 2012 were included in Ajou University Medical Center. Sellar MRI was performed in 26 of 29 patients (89.7%). CPP was diagnosed on the basis of i) onset evidence of testicular ...

hrp0084p3-1145 | Puberty | ESPE2015

Changes in BMI During GNRH Agonist Treatment in Girls with Idiopathic Central Precocious Puberty and Early Puberty

Lee Hae Sang , Jeong Hwal Rim , Kim Eun Young , Hwang Jin Soon

Background: GNRH agonist (GnRHa) has been widely used for decades to treat in patients with central precocious puberty (CPP). There are severe studies concerning changes in body composition in CPP patients following GnRHa treatment, but the results are inconsistent.Objective and hypotheses: The aim of this study was to investigate the change of BMI in children treated with GnRHa for 2 years. Also, the present study was performed to assess whether BMI aff...

hrp0084p3-1155 | Puberty | ESPE2015

Familial Precocious Puberty: Clinical Characteristics and GnRH Agonist Response

Jeong Hwalrim , Kwon Eun Byul , Lee Hae Sang , Lim Jung Sub , Hwang Jin Soon

Background: Familial precocious puberty is defined by the existence of more than one affected member either in the proband generation or in the pedigree. Recently, several gene mutation cause familial CPP is elucidated, gain of function mutations in KISS1 and KISS1R, loss of function mutations in the MKRN3, the feature of familial precocious puberty is not fully understood.Objective: To investigate the clinical characteristics of familial precocious pube...