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>G (p.Val455Gly) on exon 10, and c.374T>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.

Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase B due to mutations in the ARSB gene. Here, we report the case of a Korean female with a novel variant of MPS VI.A Korean female aged 5 years and 8 months, who is the only child of a healthy non-consanguineous Korean couple, presented at our hospital for severe short stature. She had a medical history of umbilical hernia and recurrent otitis media. Her symptoms included snoring and mouth breathing. Subtle dysmorphic features, including mild coarse face, joint contracture, hepatomegaly, and limited range of joint motion, were identified. Radiography revealed deformities, suggesting skeletal dysplasia. Growth hormone (GH) provocation tests revealed complete GH deficiency. Targeted exome sequencing revealed compound heterozygous mutations in the ARSB genes c.512G>A (p.Gly171Asp; a pathogenic variant inherited from her father) and c.1157C>T (p.Ser386Phe; a novel variant inherited from her mother in familial genetic testing). Quantitative tests revealed increased urine glycosaminoglycan (GAG) levels and decreased enzyme activity of arylsulfatase B. While on enzyme replacement therapy and GH therapy, her height increased drastically; her coarse face, joint contracture, snoring, and obstructive sleep apnea improved; urine GAG decreased; and left ventricular mass index was remarkably decreased. We report a novel variant—c.1157C>T (p.Ser386Phe)—of the ARSB gene in a patient with MPS VI; these findings will expand our knowledge of its clinical spectrum and molecular mechanisms.

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.

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.

Non-infectious complications of peritoneal dialysis (PD) are relatively less common than infectious complications but are a potentially serious problem in patients on chronic PD. Here, we present a case of a non-infectious complication of PD in a 13-year-old boy on chronic PD who presented with symptoms such as hypertension, edema, dyspnea, and decreased ultrafiltration. Chest and abdominal radiography showed pleural effusion and migration of the PD catheter tip. Laparoscopic PD catheter reposition was performed because PD catheter malfunction was suspected. However, pleural effusion relapsed whenever the dialysate volume increased. To identify peritoneal leakage, computed tomography (CT) peritoneography was performed, and a defect of the peritoneum in the left lower abdomen with contrast leakage to the left rectus and abdominis muscles was observed. He was treated conservatively by transiently decreasing the volume of night intermittent PD and gradually increasing the volume. At the 2-year follow-up visit, the patient had not experienced similar symptoms. Patients on PD who present with refractory or recurrent pleural effusion that does not respond to therapy should be assessed for the presence of infection, catheter malfunction, and pleuroperitoneal communication. Thoracentesis and CT peritoneography are useful for evaluating pleural effusion, and timely examination is important for identifying the defect or fistula.
Abdomen ; Adolescent ; Catheters ; Dyspnea ; Edema ; Fistula ; Follow-Up Studies ; Humans ; Hypertension ; Male ; Muscles ; Peritoneal Dialysis ; Peritoneum ; Pleural Effusion ; Radiography, Abdominal ; Thoracentesis ; Thorax ; Ultrafiltration

Purpose: Human parvovirus B19 infection is widespread and has a heterogeneous clinical spectrum, ranging from asymptomatic infection to potentially life-threatening complications. We investigated the various clinical features of human parvovirus B19 infection during an outbreak of the virus in our community. Methods: A retrospective chart review study was conducted at the Pusan National University Children's Hospital from December 2017 to April 2019. We investigated the clinical features of children with parvovirus B19 immunoglobulin M or parvovirus B19 DNA detected using polymerase chain reaction. Results: A total of 24 children were diagnosed with parvovirus B19 infection. Twelve (50%) had lace form rashes, and four (16.7%) had petechial rashes. Two (8.3%) were diagnosed with fever without a focus. Six (25%) developed aplastic crisis as a complication of infection, of whom three were previously diagnosed with hereditary spherocytosis and three with acute lymphoblastic leukemia. Conclusions In addition to erythema infectiosum, the parvovirus B19 infection can present clinically with various types of rashes and fever without a focus. Furthermore, hematologic manifestations such as neutropenia and aplastic crisis can occur during infection.