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...

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...

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...

hrp0092p2-175 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

The Impact of Growth Hormone Treatment in Patients with Noonan Syndrome and Growth Hormone Deficiency

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

Purpose: Noonan syndrome (NS) is a genetic disorder characterized by specific features including short stature, cardiac defect, and distinctive facial dysmorphism. Human growth hormone (GH) has been used to improve growth in children with NS but there is little information how GH treatment affects height. The aim of this study is to investigate efficacy of GH treatment in Korean children with NS compared to sex and age-matched patients with growth hormone defi...

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-p127 | Bone & Mineral Metabolism P1 | ESPE2016

Transient Pseudohypoaldosteronism and Failiure to Thrive in A 5-Month-Old Infant

Soon Kim Hae , Lee Yoonsuk , Won Lee Jung , Jin Cho Su

Hyponatremia with hyperkalemia in infancy may be seen in many endocrinologic and metabolic disorder such as congenital adrenal hyperplasia, congenital adrenal hypoplasia, and other forms of hypoadrenalism in infancy. Here, we report a infants who presented with hyponatremia with hyperkalemia finally diagnosed as pseudohypoaldosteronism (PHA) due to urinary tract infection (UTI) with reflux nephropahy. A 5-month-old female initially was transferred for poor weight gain for 2 mo...

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...