hrp0095p2-66 | Diabetes and Insulin | ESPE2022

A Novel Mutation in the Hepatocyte Nuclear Factor 1-Alpha Detected in Case of a 13-Year-Old Female with Maturity Onset Diabetes of the Young (MODY)

Hyang Cho Ja , Woon Jung Hae , Shik Shim Kye

Maturity onset diabetes of the young (MODY) is a rare type of non-autoimmune diabetes mellitus which usually present in young adulthood. An estimated prevalence was 1.2% within the pediatric diabetic population. To date it has been proposed that pathogenic variants in at least 14 genes cause MODY. Among these genes, most cases result from mutations in HNF1A (MODY3), GCK (MODY2), HNF4A (MODY1) and HNF1B (MODY5). The patient is a 13-year-old, previously healthy, nonobese female ...

hrp0097p1-516 | Growth and Syndromes | ESPE2023

Analysis of Pubertal Height Gain after Menarchal girls in Korea

Hyang Cho Ja , Woon Jung Hae , Shik Shim Kye

Purpose: Both timing of menarche and growth patterns have changed with time. Menarche is supposed to important role in pediatric linear growth. This study is aimed to investigate the relationship between the timing of menarche and pubertal growth, specifically to analyze when menarche occurs related to the pubertal growth spurt, and how the pubertal height gain is related to the timing of menarche.Method: From January 20...

hrp0098p3-193 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Height Gain after GnRH agonist Treatment for Precocious Puberty or Early Puberty

Hyang Cho Ja , Woon Jung Hae , Shik Shim Kye

Purpose: Gonadotropin-releasing hormone (GnRH) analog is the first-line treatment with precocious puberty happens before age 8 in girls. This study is aim ed to investigate the relationship between height gain and other factors, specifically to analyze validated tool for predicting adult height for precocious puberty or early puberty.Method: From January 2022 to June 2022, 32 girls with central precocious puberty who vis...

hrp0082p1-d2-219 | Reproduction (1) | ESPE2014

Mutation Analysis of the KISS1, KISS1R, LIN28A, LIN28B, TAC3, and TACR3 Genes in Girls with Central Precocious Puberty

Kim Yoo-Mi , Hye Kim Ja , Hyang Cho Ja , Choi Jin-Ho , Yoo Han-Wook

Background: Central precocious puberty (CPP) is mostly idiopathic, however, familial cases of CPP and evidence of genetic factors on pubertal timing by genome-wide association studies suggested genetic causes of CPP.Objective and hypotheses: Molecular defects in six genes (KISS1, KISS1R, LIN28A, LIN28B, TAC3, and TACR3) have been known to cause early activation of the hypothalamic-pituitary–gonad...

hrp0097p1-120 | Growth and Syndromes | ESPE2023

Personalized behavioral change technique intervention with TUITEK® patient support program to support caregivers of children treated with growth hormone in Korea

Wook Chae Hyun , Sil Oh Eun , van Dommelen Paula , Jang Kyungmi , Kyung Jung Mo , Hyang Cho Ja , Suh Junghwan , Eun Moon Jung , Koledova Ekaterina , Yang Yoo-Jin , Yoo Eun-Gyong

Background: Growth hormone (GH) treatment requires long-term self-management and optimized recombinant-human growth hormone (r-hGH) prescription. Patient support programs (PSPs) are vital in educating, providing personalised support to caregivers and enhancing patient care to achieve optimal growth outcomes. Nurse-led PSP calls using behavior change techniques (BCTs) and motivational interviewing principles have demonstrated a meaningful behavior change across...