Immune Gene Expression Profiling in Individuals with Turner Syndrome, Graves' Disease, and a Healthy Female by Single-Cell RNA Sequencing: A Comparative Study.

Turner syndrome (TS) can be determined by karyotype analysis, marked by the loss of one X chromosome in females. However, the genes involved in autoimmunity in TS patients remain unclear. In this study, we aimed to analyze differences in immune gene expression between a patient with TS, a healthy female, and a female patient with Graves' disease using single-cell RNA sequencing (scRNA-seq) analysis of antigen-specific CD4(+) T cells.

Cohort profile: Multicenter Networks for Ideal Outcomes of Rare Pediatric Endocrine and Metabolic Diseases in Korea (OUTSPREAD study).

Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated.

The association between methimazole tapering and intractable Graves' disease in children.

Background: The aim of this study was to find predictive factors for intractable Graves' disease (GD).

Methods: Ninety-three GD patients who visited two pediatric endocrinology clinics from March 2009 to August 2019 were involved in this study. Data were collected on the methimazole (MZ) dosages prescribed from their first visits to their fifth visits.

Lifelong medical challenges and immunogenetics of Turner syndrome.

Turner syndrome (TS) is a female phenotypic condition characterized by one or more typical clinical features and the partial or complete absence of a second X chromosome as determined by karyotype analysis. TS, among the most common chromosomal abnormalities, has an estimated prevalence of approximately 1 in 2,500 live-born females, with ethnic and racial differences. TS encompasses a wide array of medical challenges, including cardiovascular, endocrine, autoimmune, and mental health issues, as well as a heightened cancer risk.

Causality between Sex Hormones and Bone Mineral Density in Childhood: Age- and Tanner-Stage-Matched Sex Hormone Level May Be an Early Indicator of Pediatric Bone Fragility.

This study aimed to investigate the impact of hypogonadism on bone mineral density (BMD) in children and adolescents with chronic diseases to determine the relationship between sex hormones and BMD. This retrospective study included 672 children and adolescents with chronic diseases such as hemato-oncologic, rheumatoid, gastrointestinal, and endocrinologic diseases. The relationship between the sex- and Tanner-stage-matched for sex hormones and the sex- and age-matched lumbar spine BMD (LSBMD) was evaluated.

The association of serum irisin with anthropometric, metabolic, and bone parameters in obese children and adolescents.

Background: Irisin is an adipomyokine secreted by muscle and adipose cells, and it plays a role in glucose, fat, and bone metabolism. This study aimed to determine the correlation of serum irisin levels with anthropometric, metabolic, and bone parameters in obese children and adolescents.

Methods: This single-center study included 103 Korean children and adolescents: 54 (52.

Usefulness of glycated albumin level as a glycemic index complementing glycosylated hemoglobin in diabetic children and adolescents.

Purpose: Glycated albumin (GA) is a glycemic marker reflecting the average serum glucose of the previous 2 weeks. This study aimed to evaluate the usefulness of GA as a glycemic index to complement glycosylated hemoglobin (HbA1c) in children and adolescents.

Methods: Fifty-four children and adolescents with diabetes mellitus (DM) and 97 children and adolescents without DM (NDM) were enrolled.

Comprehensive analysis of chemokine gene polymorphisms in Korean children with autoimmune thyroid disease.

Chemokines are chemotactic cytokines that can cause directed migration of leukocytes. The aim of this study was to examine differences in single nucleotide polymorphisms (SNP) of chemokine in AITD patients compared to normal controls. A total of 86 Korean pediatric patients were included in the patient group and 183 adults were included in the normal control group.

Cancer and Mortality Risks of Graves' Disease in South Korea Based on National Data from 2010 to 2019.

Purpose: This study aimed to investigate Graves' disease (GD) associated cancer and mortality risk using a Korean population-based study.

Patients And Methods: We included 6435 patients with GD using the Korean National Health Insurance Service-National Sample Cohort database from 2010 to 2019. Data concerning such patients were compared in a 1:5 ratio with age- and sex-matched non-GD group (n=32,175).

Population Prevalence, Cancer Risk, and Mortality Risk of Turner Syndrome in South Korean Women Based on National Health Insurance Service Data.

Purpose: In South Korea, investigations into Turner syndrome (TS) prevalence and TS-associated cancer and mortality are lacking. Accurate data were estimated from the National Health Insurance Service (NHIS) and the Rare Diseases Registry (RDR) records.

Materials And Methods: Data on patients with TS who were registered in the RDR between 2007 and 2017 were collected.

High Glycated Hemoglobin Instead of High Body Mass Index Might Increase the Urine -Acetyl-β-D-glucosaminidase Con-Centration in Children and Adolescents with Diabetes Mellitus.

Children with diabetes, and particularly those with obesity, have poor glycemic control. They are thus at higher risk of early microvascular complications. Renal tubulointerstitial markers are integral to evaluating diabetic nephropathy.

Clinical practice guidelines for optimizing bone health in Korean children and adolescents.

The Committee on Pediatric Bone Health of the Korean Society of Pediatric Endocrinology has newly developed evidence-based clinical practice guidelines for optimizing bone health in Korean children and adolescents. These guidelines present recommendations based on the Grading of Recommendations, which includes the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion.

Adrenocortical carcinoma and a sporadic MEN1 mutation in a 3-year-old girl: a case report.

Childhood adrenocortical carcinoma (ACC) is a rare disease that is mostly linked to familial cancer syndrome. Although the prevalence of ACC is extremely low in children, it is clinically important to diagnose ACC early because age and tumor stage are closely related to prognosis. From this perspective, understanding the underlying genetics and possible symptoms of ACC is crucial in managing ACC with familial cancer syndromes.

Clinical Significance of the Fetuin-A-to-Adiponectin Ratio in Obese Children and Adolescents with Diabetes Mellitus.

Fetuin-A and adiponectin are inflammatory cytokines associated with obesity and insulin resistance. This study aimed to examine the fetuin-A-to-adiponectin ratio (FAR) in diabetic children and to determine the role of FAR. A total of 54 children and adolescents with diabetes mellitus (DM) and 44 controls aged 9-16 years were included in this study.

Associations between Sclerostin and Anthropometric and Metabolic Parameters in Children and Adolescents.

(1) Background: Bone plays an important role in the regulation of the systemic glucose and energy metabolism. Sclerostin, secreted by osteocytes, is an inhibitor of the Wnt/β-catenin bone metabolic pathway, and is involved in osteoporosis and metabolic disease. The aim of this study was to investigate the relationship between sclerostin and anthropometric and metabolic parameters in children and adolescents with obesity or who are overweight.

Effect of Vertebral Fracture on Auxological Profiles of Children Undergoing Acute Lymphoblastic Leukemia Treatment.

Acute lymphoblastic leukemia (ALL) is the most common pediatric malignancy, and children with ALL often experience skeletal morbidity such as vertebral fractures (VF) during and after ALL treatment. Among various treatment-associated factors that affect growth pattern, the presence of VF might trigger growth impairment. This study aimed to investigate the overall VF incidence following childhood ALL treatment and examined the association of VF with growth.

Transient Hyperinsulinemic Hypoglycemia Linked to Mutation.

Prolonged hyperinsulinemic hypoglycemia in infancy can result in developmental sequelae. A mutation in the paired box-6 gene () has been reported to cause disorders in oculogenesis and neurogenesis. A limited number of cases of diabetes mellitus in adults with a mutation suggest that the gene also plays a role in glucose homeostasis.

Findings of Brain Magnetic Resonance Imaging in Girls with Central Precocious Puberty Compared with Girls with Chronic or Recurrent Headache.

In the present study, the results of brain magnetic resonance imaging (MRI) in girls with central precocious puberty (CPP) were compared those in with girls evaluated for headaches. A total of 295 girls with CPP who underwent sellar MRI were enrolled. A total of 205 age-matched girls with chronic or recurrent headaches without neurological abnormality who had brain MRI were included as controls.

Poor Glycemic Control Can Increase the Plasma Kidney Injury Molecule-1 Concentration in Normoalbuminuric Children and Adolescents with Diabetes Mellitus.

Diabetic nephropathy (DN) is a serious microvascular complication in childhood diabetes and microalbuminuria has been a solid indicator in the assessment of DN. Nevertheless, renal injury may still occur in the presence of normoalbuminuria (NA) and various tubular injury biomarkers have been proposed to assess such damage. This case-controlled study aimed to evaluate plasma and urinary neutrophil gelatinase-associated lipocalin and kidney injury molecule-1 (KIM-1) levels in diabetic children particularly in those with normo- and high-NA stages and determine their role in predicting DN.

Effect of body mass index on peak growth hormone level after growth hormone stimulation test in children with short stature.

Purpose: The aim of this study is to evaluate the effect of body mass index (BMI) on peak serum growth hormone (GH) level after GH stimulation test in children with short stature.

Methods: Data were obtained from retrospective medical record reviews of those who visited the pediatric endocrine clinic at St. Vincent's Hospital of Catholic University for short stature from January 2010 to June 2019.

Association between Parent's Metabolic Syndrome and 12- to18-Year-Old Offspring's Overweight: Results from the Korea National Health and Nutrition Examination Survey (K-NHANES) 2009-2016.

Background: Little information is available on the association between parents' metabolic syndrome (MetS) and adolescent offspring's obesity in Korea. The aim of our study is to determine the association between parent's metabolic syndrome and offspring's obesity.

Methods: The study data were obtained from the Korean National Health and Nutrition Examination Survey conducted during 2009-2016.

Comparison of different criteria for the definition of insulin resistance and its relationship to metabolic risk in children and adolescents.

Purpose: Childhood obesity frequently persists into adulthood and is associated with insulin resistance (IR) and increased long-term morbidity and mortality. We compared IR criteria concerning 'age-specific cutoff point' (ACOP) and 'fixed cutoff point' (FCOP) for the identification of IR and investigated their correlation with metabolic syndrome (MS).

Methods: Data were acquired from the 5th Korea National Health and Nutrition Examination Survey (2010-2011).