hrp0098p2-359 | Late Breaking | ESPE2024

High Frequency of Copy Number Variations as Genetic Causes of Failure to Achieve Catch-Up Growth in Small for Gestational Age Children: A Multicenter Study in Korea

Lee Yena , Jae Kang Min , Rim Jeong Hwal , Young Kim Eun , Noh Eu-seon , young Jin Hye , Byul Kwon Eun , Jin Lee Hye , Seo Young-Jun , Young Kim Nan , Hong Sangkyoon , Hong Il-Tae

Background: Small for gestational age (SGA) children are defined by birth weight and/or length at least 2 standard deviations (S.D) below the population mean for gestational age. Up to 90% of these infants experience catch-up growth within the first two years of life; however, 10-15% fail to do so, remaining short at age 2 (SGA-SS). The etiology of failure to achieve catch-up growth remains largely unknown.Methods: This ...

hrp0098p1-298 | Late Breaking 1 | ESPE2024

The severity and correlates of depressive symptoms in adolescents with obesity compared to normal adolescents in Hong Kong using a validated Patient Health Questionnaire-9 screening tools

Fei Geoffrey Yu Chek , Wong Wilfred , Man Yip Ka , Shan See Wing

Objective: To evaluate the severity and the correlates of depressive symptoms in adolescents with obesity comparing to normal adolescents in Hong Kong using a validated screening tools: Patient Health Questionnaire-9 (PHQ-9) for age 11-17 in Hong Kong.Methods: In this prospective and retrospective cross-sectional study. We recruited 840 adolescents, including 306 adolescents with obesity from clinic and local schools. We...

hrp0098p3-136 | GH and IGFs | ESPE2024

Benefits and risks of integrating digital health solutions in patients receiving growth hormone therapy in Hong Kong: Findings from an experts panel

Cheung Fu Chun , Lai-Ka Lee Samantha , Chun Wong Wai , Chung Yau Ho , Koledova Ekaterina , Rivera Romero Octavio

Background: Advancements in healthcare digitalisation are facilitating the management of long-term recombinant human growth hormone (r-hGH) therapies. Understanding the benefits and risks associated with digital healthcare solutions is crucial to assess their effectiveness in improving treatment adherence and ultimately achieving optimal growth outcomes.Aim: To explore healthcare professionals’ (HCPs) perspective o...

hrp0089p3-p395 | Thyroid P3 | ESPE2018

Intellectual Outcome at Childhood in Congenital Hypothyroidism According to Etiology and Treatment Related Factors

Hong Yong Hee

Introduction: The intellectual outcome in children with congenital hypothyroidism detected by neonatal screening is generally good. The aim of this study was to evaluate the intellectual outcome in patients with congenital hypothyroidism at childhood and to identify factors that may affect intellectual development.Methods: The intelligence quotient (IQ) of 126 patients with congenital hypothyroidism was evaluated at childhood using the Korean Wechsler In...

hrp0092p3-38 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Mild Hypophosphatasia in a Family with a Novel Mutation in the ALPL Gene

Hong Yong Hee , Chung Sochung

Introduction: Hypophosphatasia (HPP) is a rare autosomal recessive or dominant genetic disorder characterized by the abnormal development of bones and teeth and deficiency of tissue non-specific alkaline phosphatase activity. These abnormalities occur due to defective mineralization, the process by which bones and teeth take up minerals such as calcium and phosphorus. The specific symptoms can vary greatly from one person to another, sometimes even among membe...

hrp0092p2-139 | Fat, Metabolism and Obesity | ESPE2019

The Prevalence of Elevated Blood Pressure and Hypertension in Korean Adolescents, based on the Guidelines of Endocrine Society and American Academy of Pediatrics

Chung In-Hyuk , Hee Hong Young , Chung Sochung

Purpose: Childhood obesity epidemic leads an interest of pre-stage of hypertension; higher/elevated blood pressure (BP) status which BP numbers are lower than the criteria for diagnosing hypertension. In 2017, the clinical practice guidelines for pediatric BP management were published separately by Endocrine Society (ES) and American Academy of Pediatrics (AAP). The aims of this study are to evaluate the prevalence of elevated blood pressure (EBP) including hy...

hrp0086p2-p587 | Perinatal Endocrinology P2 | ESPE2016

Permanent Neonatal Diabetes Mellitus Due to a G32S Heterozygous Mutation in the Insulin Gene

Xu Xiao-qin , Huang Ke , Hong Fang

Background: Permanent neonatal diabetes mellitus (PNDM) is a rare form of monogenic diabetes with onset less than 6 months of age. Together, activating mutations in KCNJ11 and ABCC8 genes, that encode the Kir6.2 andsulfonylurea receptor 1 (SUR1) subunits, respectively, account for nearly 50% of PNDM cases.Case report: We present a case reported a child diagnosed with PNDM resulting from a new mutation in the insulin (INS) gene, leading to severe hypergly...

hrp0097p1-325 | Growth and Syndromes | ESPE2023

Clinical and Genetic Analysis of Ten Short Stature Patients with ACAN Variants

Binbin Cai , Hong Chen , Ruimin Chen

Objective: To explore the clinical manifestations and genetic characteristics of 10 patients with ACAN variants presented as short stature, and analyze the efficacy of recombinant human growth hormone (rhGH) and/or combined with gonadotropin-releasing hormone agonist (GnRHa) in some patients with premature thelarche.Methods: We reviewed clinical data of 10 patients with ACAN variants. Genetic testing was performed on pro...

hrp0098p2-306 | Late Breaking | ESPE2024

Genotype and clinical characteristics analysis of nineteen chinese short-stature patients with acan gene variants

Cai Binbin , Chen Hong , Chen Ruimin

Objective: To explore the genotypes and phenotypes of 19 patients with ACAN variants presented as short stature with or without premature thelarche and abnormal intellectual development. Then the therapeutic response to recombinant human growth hormone (rhGH) and/or gonadotropin-releasing hormone agonist (GnRHa) were analysed.Methods: We reviewed clinical data of 19 patients with ACAN variants. Genetic ...

hrp0082p2-d1-568 | Sex Development | ESPE2014

46XY, DSD due to 5α-Reductase Type 2 Deficiency in 19 Chinese Patients

Li Yan-Hong , Du Min-Lian , Ma Hua-Mei , Chen Hong-Shan , Chen Qiu-Li

Background: Patients with 46,XY, DSD are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization. 5α-reductase type 2 deficiency due to SRD5A2 gene mutations result in inadequate conversion from testosterone to dihydrotestosterone (DHT), and is responsible for incomplete virilization in male patients. Up to date, more than 50 mutations have been reported, however, clinical features are variable and heterogeneous.<p cl...