hrp0095p1-257 | Diabetes and Insulin | ESPE2022

A novel mutation in INS gene in an infant with neonatal diabetes mellitus: A case report and functional study

Suh Junghwan , Jin Kim Su , In Lee Hae , Lee Myeongseob , Song Kyungchul , Saem Choi Han , Kwon Ahreum , Wook Chae Hyun , Kim Ho-Seong

Neonatal diabetes mellitus (NDM) is a hyperglycemic status usually diagnosed before first 6 months of life, which is caused by monogenic mutations. INS gene mutation is the second most common cause of permanent NDM, causing misfolding of proinsulin and accumulation in the endoplasmic reticulum, leading to apoptosis of the pancreatic beta cells. We report a case of NDM in a 2-month-old girl with a novel heterozygous mutation of the INS gene, and functional studies to confirm th...

hrp0089p1-p185 | Growth & Syndromes P1 | ESPE2018

Growth Outcome in Girls with Idiopathic Central Precocious Puberty Treated with Gonadotropin-releasing Hormone Agonist

Sang Lee Hae , Hwang Jin Soon

Objective: Gonadotropin-releasing hormone agonists (GnRHa) are the treatment of choice for central precocious puberty (CPP) and have been widely used for decades. We determined the effect of GnRHa treatment on auxological outcomes of girls with idiopathic CPP.Methods: This study included 84 girls treated monthly with depot leuprolide acetate who had reached adult height. We compared their final adult height (FAH) with their initial predicted adult height...

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...

hrp0095p1-25 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Efficacy and safety of bisphosphonate treatment in pediatric patients with osteoporosis caused by immobilization

Lee Myeongseob , In Lee Hae , Seo Junghwan , Kim Ho-Seong

Introduction: Osteoporosis is medical condition commonly associated with immobilization in children, which can lead to a vicious cycle of disability, worsening osteoporosis, and recurrent fractures. Currently, bisphosphonates are widely used as a standard therapy in children with osteoporosis, but there are limited data on efficacy according to its dosage and duration. We aimed to evaluate efficacy of bisphosphonate treatment according to the dosage and durati...

hrp0095p1-427 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

The mutation of the FGFR3 gene causes familial acanthosis nigricans with hypochondroplasia syndrome

Sang Lee Hae , Suk Shim Young , Sub Lim Jung

Objective: Acanthosis nigricans (AN) is characterized by velvety and papillomatous pigmented hyperkeratosis of the flexures and neck. Mutations in fibroblast growth factor receptor 3 (FGFR3) gene have been identified as one of the causes of skeletal dysplasia with AN. However, there have been few reports about familial AN with hypochondroplasia. Here we report a familial case with FGFR3 gene mutation.Case reports: A 16-y...

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...

hrp0097p1-316 | Growth and Syndromes | ESPE2023

The effects of androgen treatment on growth in patients with 5-α-Reductase type 2 deficiency

Kwon Ahreum , Kim Sujin , Seo Junghwan , in Lee Hae

Introduction: 5-α-Reductase type 2 deficiency (5αRD2) is 46,XY disorder of sex development that requires androgen treatment for normal male external genitalia development. Despite concerns regarding precocious puberty and stunted growth associated with androgen treatment, limited research has been conducted on its effects on individuals with 5αRD2. The present study aims to evaluate the impact of androgen treatment on bone age (BA) and height...

hrp0095p1-74 | Fat, Metabolism and Obesity | ESPE2022

Metabolic risk assessment in children and adolescents using the tri-ponderal mass index

Seo Young-Jun , Suk Shim Young , Sang Lee Hae , Soon Hwang Jin

We assessed the risk of metabolic syndrome in children and adolescents who were classified using the tri-ponderal mass index (TMI) with data from the Korea National Health and Nutrition Examination Survey (KNHANES). Data from 10-18-year-old subjects that were overweight or obese (n=1,362) were extracted from the KNHANES 2007-2018. Weight classifications were determined by TMI and included overweight and Class I, Class II, and Class III obesity. The standard deviation ...

hrp0095p1-157 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Effect of gonadotropin-releasing hormone agonist monotherapy and combination therapy with growth hormone on final adult height in girls with central precocious puberty

Sang Lee Hae , Young Cho Ah , Suk Shim Young , Sub Lim Jung , Soon Hwang Jin

Objective: This study aimed to compare clinical parameters, including final adult height (FAH), in girls with central precocious puberty treated with gonadotropin-releasing hormone agonists (GnRHa) with and without growth hormone (GH).Methods: This retrospective study reviewed data of 210 girls with precocious puberty who had reached FAH in a long-term trial of GnRHa treatment. The subjects were divided into the GnRHa tr...

hrp0095p1-343 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Subcutaneous Triptorelin stimulation test for diagnosing central precocious puberty in girls

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

Objective: Central precocious puberty (CPP) is defined as early activation of the hypothalamic-pituitary-gonadal axis. The gonadotropin releasing hormone (GnRH) stimulation test has become widely used in the evaluation of CPP. However, intravenous GnRH is often not readily available for commercial use. Therefore, we aimed to evaluate the diagnostic accuracy of the Triptorelin test compared to the GnRH test.Methods: A tot...