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Background: This study aimed to compare the response to growth hormone (GH) therapy according to the presence of GH deficiency (GHD) in short-stature children born small for gestational age (SGA) in Korea and to present appropriate GH dose criteria. Methods: We evaluated 27 children born SGA with short stature and GHD (GHD group) and 23 without GHD (non-GHD group) registered in the LG Growth Study. Growth responses and changes in GH dose over a 2-year GH therapy period were compared, and the factors affecting growth response were investigated. Results: The standard deviation scores (SDSs) for baseline weight and body mass index (BMI) were significantly lower in boys without GHD than in boys with GHD. The SDS for insulin-like growth factor-1 (IGF-1) was lower among boys without GHD than among boys with GHD, while the SDS for insulin-like growth factor-binding protein-3 (IGFBP-3) was higher among girls without GHD than among girls with GHD; however, there was no significant difference when comparing all children with GHD to those without GHD. Regardless of the presence of GHD, the difference between chronological age and bone age decreased annually. Notably, there was significantly rapid bone age progression among patients without GHD. The findings showed differences in GH dose according to GHD starting from the 2nd year of therapy, with the non-GHD group receiving a significantly higher dose. Regarding the factors affecting growth response, younger age and bone age, higher height SDS, BMI SDS and MPH SDS were related to higher growth response (Δheight SDS and Δgrowth velocity), but there was no statistically significant correlation. Conclusion: GHD is rare among children born SGA. Nonetheless, if there are any signs of decreased growth velocity or hypopituitarism, the presence of GHD should be assessed before GH therapy, and personalized therapy based on the results is required. [ABSTRACT FROM AUTHOR]

N‐acetyl‐d‐neuraminic acid synthase‐congenital disorder of glycosylation (NANS‐CDG) is a rare autosomal recessive defect in the N‐acetyl‐neuraminic acid biosynthesis pathway. Herein, we report the first Korean NANS‐CDG patient. A 10‐year‐old boy was referred to our clinic because of incidental radiographic findings indicating spondyloepimetaphyseal dysplasia. The patient had microcephaly, cavum septum pellucidum, and ventriculomegaly at birth, and at 10 years, a very short stature. He had a history of idiopathic chronic immune thrombocytopenia, central adrenal insufficiency, and hypothyroidism since infancy. The first unprovoked seizure occurred at the age of 2 years, and he was subsequently admitted to the hospital frequently because of respiratory infections and intractable seizures. Exome sequencing identified unreported biallelic variants of the NANS gene. Clinical and genetic confirmation of NANS‐CDG highlights its expanding phenotypic and genotypic diversity. [ABSTRACT FROM AUTHOR]

Purpose: This study aimed to identify changes in the prevalence of obesity and related diseases among children and adolescents during the coronavirus disease 2019 (COVID-19) pandemic., Methods: This study was conducted using data from the 2016-2021 Korean National Health and Nutrition Examination Survey and included 3,861 children and adolescents aged 10-18 years. The prevalence of obesity and related diseases was adjusted for age, sex, and income. We also analyzed the socioeconomic, nutritional, and physical activity items in the survey., Results: During the COVID-19 pandemic, there was a significant increase in the prevalence of obesity (p=0.02), central obesity (p=0.001), mean body mass index (BMI, p=0.03), and hemoglobin A1c (p=0.005) among children and adolescents aged 10-18 years. The intake of food and calories was significantly reduced in the normal-weight group (p=0.001 and <0.001) but not in the obese group. Incidences of skipping breakfast increased and eating out decreased, regardless of obesity status. However, the changes in health behaviors were not significant. The prevalence of central obesity and increased BMI showed a significant linear association between children and their parents, especially in the 10-12-year-old age group. A clear increase in the proportion of metabolically unhealthy children and adolescents was observed in the obese group, and the frequency of central obesity in parents also increased., Conclusion: The number of metabolically unhealthy, obese children and adolescents increased during the COVID-19 pandemic. Age-specific strategies that consider growth, development, and genetic and social factors are required. Health strategies targeting the entire family are required to develop healthier habits.

The hyperglycemic hyperosmolar state (HHS) is considered the most fatal complication of type 2 diabetes mellitus (DM). The number of case reports describing pediatric HHS has increased recently in parallel with obesity and the prevalence of type 2 DM in pediatric patients. In this study, we investigated the patient characteristics and outcomes of HHS in 9 adolescents with obesity and type 2 DM. Almost all patients exhibited mixed clinical features of HHS and diabetic ketoacidosis (DKA), including characteristics such as hyperosmolality and ketoacidosis. These features made definitive diagnosis difficult; 5 out of 9 patients were initially diagnosed with DKA and were treated accordingly. Patients who were initially diagnosed with HHS received a more vigorous and appropriate fluid replacement than other patients did. No patients died, although 3 exhibited complications, such as arrhythmia, acute kidney injury requiring renal replacement therapy, rhabdomyolysis, and acute pancreatitis. Hyperosmolality with consequent severe dehydration is considered a significant factor contributing to the outcomes of patients with HHS. Therefore, early recognition of hyperosmolality is crucial for an appropriate diagnosis and adequate fluid rehydration to restore perfusion in the early period of treatment to improve patient outcomes for this rare but serious emerging condition in pediatric patients.

Follicle-stimulating hormone receptor (FSHR) mutation is a rare cause of amenorrhea. We report the first case of FSHR mutations in Korea. Two female siblings, aged 16 (patient 1) and 19 (patient 2) years, were referred to the pediatric endocrinology clinic because of primary amenorrhea despite normal breast budding. Gonadotropin-releasing hormone stimulation test showed markedly elevated luteinizing hormone and follicle-stimulating hormone with a relatively low level of estrogen, suggesting hypergonadotropic hypogonadism. Pelvic magnetic resonance imaging revealed a bicornuate uterus in patient 1 and uterine hypoplasia with thinning of the endometrium in patient 2. The progesterone challenge test revealed no withdrawal of bleeding. After two months of administration of combined oral contraceptives, menarche was initiated at regular intervals. To determine the genetic cause of amenorrhea in these patients, whole exome sequencing (WES) was performed, which revealed a compound heterozygous FSHR mutation, c.1364T&gt;G (p.Val455Gly) on exon 10, and c.374T&gt;G (p.Leu125Arg) on exon 4; both of which were novel mutations and were confirmed by Sanger sequencing. The patients maintained regular menstruation and improved bone mineral density while taking combined oral contraceptives, calcium, and vitamin D. Therefore, FSHR mutations can be the cause of amenorrhea in Koreans, and WES facilitates diagnosing the rare cause of amenorrhea.