hrp0095p1-178 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Human chorionic gonadotropin (hCG)–secreting hepatoblastoma in an male infant with peripheral precocious puberty and 11-year follow-up

MA Hua-mei , LI Yan-hong , Chen Qiu-li , DU Min-lian

Background: Hepatoblastoma is the most common malignant pediatric hepatic tumor virtually confined to infants and young children. Accompanied by raised levels of alpha fetoprotein (AFP),rarely, the beta human chorionic gonadotropin (β hCG) levels may also be elevated, which can cause male peripheral precocious puberty (PPP).Objective: To report a case of HB presented with PPP with elevated serum AFP, β h...

hrp0095p1-585 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Long Term Follow-up of A Boy Who Had Suprasella Tumor Recurrence 4 Years After the First Diagnosis of Extracranial GCTs

Shi Xian-jun , Li Yanh-hong , Ma Hua-mei , Du Min-lian

Background: In children with extracranial germ cell tumors (GCTs), brain metastases are rare and are classified as “poor prognosis”. The longest interval to brain metastases was 36 months after diagnosis in children, however, it is still less understood.Methods: We report a boy who had suprasella tumor recurrence 4 years after the first diagnosis of extracranial GCTs (thymus).Re...

hrp0092fc1.2 | Diabetes and Insulin Session 1 | ESPE2019

Three New Genes (PTPRD, SYT9, and WSF1) Related to Korean Maturity-Onset Diabetes in the Young (MODY) Children Decrease Insulin Synthesis and Secretion in Human Pancreatic Beta Cells

Jang Kyung-Mi , Moon Jung-Eun , Lee Su-Jung , Lee Ji-Min , Ko Cheol-Woo

Background: MODY includes a very heterogenous group of monogenic diabetes mellitus characterized by beta-islet cell dysfuction. We previously reported 3 new gene mutations of PTPRD, SYT9 and WFS1 in Korean MODY children (Horm Res Paediatr,2015). We investigated whether the PTPRD, SYT9 and WFS1 mutation overexpression vectors affect insulin synthesis and secretion in human pancreatic beta cells.Materials & Methods: We...

hrp0092t14 | Top 20 Poster | ESPE2019

The Effect of Endocine Disrupting Chemicals to Precocious Puberty in Children with Exposure History of 'Slim'

Lee Su-Jung , Lee Ji-Min , Moon Jung-Eun , Ko Cheol-Woo

Background: Recently, the puberty is becoming to start earlier. This early beginning of the puberty is multifactorially related to genes, hormones and environmental factors. It has been already known in many animal experiments that endocrine disrupting chemicals (ECDs) are deeply envolved in regulation of endocrine systems. However, clinical studies in humans are limited. Recently, the toy of 'Slim' which thought to contain ECDs such as phthalates is v...

hrp0092p2-166 | GH and IGFs | ESPE2019

Prediction of the First-Year Response to Growth Hormone Treatment in Prepubertal Korean Children with Idiopathic Growth Hormone Deficiency: Analysis of Data from the LG Growth Study Database

Cho Wonkyoung , Ahn Moon-Bae , Cho Kyoung Soon , Jung Min Ho , Suh Byung-Kyu

Background: Insufficient data exist for the prediction of the first-year response to growth hormone (GH) treatment in Korean prepubertal children with idiopathic GH deficiency (GHD).Methods: Data from children (n = 345) who were in the LG Growth Study Database or had participated in other relevant clinical trials were used to develop a model. All included patients had been diagnosed with idiopathic GHD with maximum G...

hrp0092p2-282 | Thyroid | ESPE2019

Treatment for Graves' Disease in Children and Adolescents: A Long-Term Retrospective Study at a Single Institution

Kim Min-Sun , Song Ari , Park Hyojung , Cho Sung Yoon , Jin Dong-Kyu

Background: Management options are limited for the treatment of Graves' disease (GD) in children and adolescents. Antithyroid drugs (ATDs) remain the first-line therapy in patients with GD, despite a high relapse rate. We investigated the clinical characteristics, treatment, the outcome, and predictors of a remission of children and adolescents with GD at a single center.Methods: We retrospectively reviewed the medic...

hrp0089p2-p047 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

A Novel Variant of SLC34A1 Gene in an Infant with Idiopathic Infantile Hypercalcemia

Lee Gi-Min , Moon Jung-Eun , Kim Hyeon-A , Lee Su-Jeong , Ko Cheol-Woo

Bacground and objective: Idiopathic infantile hypercalcemia is one of rare diseases characterizing hypercalcemia in infancy. Renal phosphate absorption in proximal tubules plays a very important role in the phosphate and calcium homeostasis. SLC34A1 is known a key regulator of renal phosphate reabsorption. SLC34A1 gene mutation is one of very uncommon causes of idiopathic infantile hypercalcemia. We have experienced a case of idiopathic infantile hypercalcemia caused by a homo...

hrp0089p1-p057 | Diabetes & Insulin P1 | ESPE2018

Three New Gene Variants (PTPRD, SYT9, and WFS1) Related to Korean MODY Children Decrease Insulin Secretion in Human Pancreatic Beta Cells

Jang Kyung-Mi , Moon Jung-Eun , Lee Su-Jeong , Lee Gi-Min , Ko Cheol-Woo

Background & objective: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that is characterized by an early onset, autosomal dominant mode of inheritance and a primary defect in pancreatic β-cell function. MODY has been identified in Asian populations, however, there is a big discrepancy in the genetic locus between Asian and Caucasian patients with MODY. We previously reported that mutations in PTPRD, SYT9 and WFS1 have been identified in Ko...

hrp0089p1-p150 | GH & IGFs P1 | ESPE2018

Total Sum of Growth Hormone Values Obtained from Growth Hormone Stimulation Test May be Useful in the Diagnosis of Prepubertal Children with Idiopathic Growth Hormone Deficiency

Lee Su-Jeong , Moon Jung-Eun , Lee Gi-Min , Kim Hyeon-A , Ko Cheol-Woo

Background and objective: The peak GH value plays a crucial role in the diagnosis of idiopathic growth hormone deficiency (iGHD). However, the prediction of peak GH in iGHD diagnosis is known to be limited. The purpose of this study was to evaluate the clinical and diagnostic usefulness of the total sum of GH values obtained from the GH stimulation test.Materials and methods: We retrospectively reviewed 178 prepubertal children who were diagnosed with iG...

hrp0089p2-p315 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Research on the Relationship between Secular Trends of Pubertal Development and Obesity in Child and Adolescent

Xiong Feng , Luo Xuan , Song Cui , Zhu Gao-Hui , Zhu Min

Objective: To research the the relationship between secular trends of puberty development and obesity in child and adolescent in area of southwest China.Methods: Selected respectively 4010 childs and adolescents aged between 6 and 17 years in April 2003 to May 2005, and 1387 childs and adolescents aged between 6 and 18 years in December 2013 to November 2015 in China Chongqing area.Height, weight and the breast, pubic hair development of girls, and the t...