hrp0097p1-527 | Growth and Syndromes | ESPE2023

Application of next-generation sequencing in patients suspected of having skeletal dysplasia

Kim Minji , Kim Min-Ji , Kun Cheon Chong

Background: Skeletal dysplasias (SD) are a heterogeneous group of heritable conditions with generalized bone and cartilage impairment caused by pathogenic variants in genes primarily affecting skeletogenesis and/or bone homeostasis. In this study, we conducted a next-generation sequencing (NGS) in patients with a suspected SD to reveal the underlying etiologies of skeletal dysplasia.Methods: Thirty-four pediatric patient...

hrp0097p2-9 | Growth and Syndromes | ESPE2023

A novel COL11A1 gene mutation in a patient with short stature mimicking Noonan syndrome

Kim Minji , Kim Min-Ji , Kun Cheon Chong

Background: Fibrochondrogenesis 1 (FBCG1) is known as an autosomal recessive syndrome, which is related to short-limbed skeletal dysplasia. The disease is clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Mutations in the gene encoding the α1 chain of type XI collagen (COL11A1) are s...

hrp0097p1-268 | Fat, Metabolism and Obesity | ESPE2023

The 2016–2021 Korea National Health and Nutrition Examination Survey for Metabolic Alteration in children and adolescent during the COVID-19 Pandemic

Kim Min-Ji , Kim Minji , Yoo Sukdong , Kun Cheon Chong

Purpose: Since the COVID-19 outbreak, the number of obese children and adolescents has increased rapidly. Obesity acts as a gateway to chronic adult diseases, so proper management during childhood and adolescence is essential. We aimed to identify the interannual changes in the prevalence of obesity, diabetes mellitus, dyslipidemia, and hypertension, and to investigate factors contributing to these changes before and during the COVID-19 pandemic.<p class="...

hrp0097p1-163 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Identification of novel NFKB2 mutation in a Korean boy presenting with muscle weakness

Kim Yoo-Mi , Kim Eun-Hee , Kim Minji , So Hyejin , Hyuk Lim Han

Introduction: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome is a rare condition characterized by symptomatic ACTH deficiency and primary hypogammaglobulinemia, caused by a heterozygous mutation in the NFKB2 gene (MIM#164012) on chromosome 10q24. We report the novel mutation of the NFKB2 gene in a Korean boy presenting with gait disturbance, calf pain, and abnormal thyroid function test.<s...

hrp0089lb-p13 | Late Breaking P1 | ESPE2018

Clinical and Endocrine Characteristics and Genetic Analysis of Korean Children with McCune–Albright Syndrome

Cho Eun-Kyung , Im Minji , Kim Jinsup , Yang Aram , Song Ari , Ki Chang-Seok , Lee Ji-Eun , Cho Sung Yoon , Jin Dong-Kyu

McCune-Albright syndrome (MAS) is a rare disease defined by the triad of precocious puberty (PP), café au lait spots, and fibrous dysplasia (FD). There are only a few patients with MAS in Korean because of the rarity of this disease. We reported the various clinical and endocrine manifestations and genetic analysis of 14 patients with MAS in Korea. It is a retrospective cohort study of patients’ clinical data including about peripheral PP, FD. Also, treatment experie...

hrp0089p3-p398 | GH &amp; IGFs P3 | ESPE2018

Recombinant Growth Hormone Therapy in Prepubertal Children with Idiopathic Short Stature in Korea: A Phase III Randomized Trial

Im Minji , Kim J , Suh B-K , Ko CW , Lee K-H , Shin CH , Hwang JS , Kim HS , Chung WY , Kim CJ , Han H-S , Kwon NY , Cho SY , Yoo H-W , Jin D-K

Several studies have evaluated the effects of growth hormone (GH) on auxological and biochemical parameters in children with non-GH-deficient, idiopathic short stature (ISS). This study evaluated the efficacy and safety of GrowtropinR-II (recombinant human GH) in Korean patients with ISS. This was a 1-year, open-label, multicenter, phase III randomized trial of Growtropin-II in Korean patients with ISS. In total, 70 prepubertal subjects (39 males, 31 females) betwee...