A boy with 46,X,+mar presenting gynecomastia and short stature.

A 15-year-old boy was referred due to gynecomastia and short stature. He was overweight and showed the knuckle-dimple sign on the left hand, a short fourth toe on the left foot, and male external genitalia with a small phallus. His levels of estradiol and follicle-stimulating hormone were increased, and his testosterone concentration was normal.

Ultrasound measurement of pediatric visceral fat thickness: correlations with metabolic and liver profiles.

Purpose: Abdominal obesity is a fundamental factor underlying the development of metabolic syndrome. Because of radiation exposure and cost, computed tomography or dual-energy X-ray absorptiometry to evaluate abdominal adiposity are not appropriate in children. Authors evaluated whether ultrasound results could be an indicator of insulin resistance and nonalcoholic fatty liver disease (NAFLD).

Growth hormone treatment and risk of malignancy.

Growth hormone (GH) treatment has been increasingly widely used for children with GH deficiencies as the survival rate of pediatric patients with malignancies has increased. Both GH and insulin-like growth factor-I have mitogenic and antiapoptotic activity, prompting concern that GH treatment may be associated with tumor development. In this review, the authors examined the relationship between GH treatment and cancer risk in terms of de novo malignancy, recurrence, and secondary neoplasm.

Sex hormone binding globulin, free estradiol index, and lipid profiles in girls with precocious puberty.

Purpose: Sex hormone-binding globulin (SHBG) modulates the availability of biologically active free sex hormones. The regulatory role of SHBG might be important in the relationship between hormone levels and the modification of lipid profiles in girls with precocious puberty. However, few studies have evaluated the relationship of SHBG, free estradiol index (FEI), and lipid levels in these girls.

Efficacy and safety of LB03002, a once-weekly sustained-release human GH for 12-month treatment in Korean children with GH deficiency.

Purpose: The purpose of this study was to investigate the efficacy and safety of LB03002, a sustained-release human GH (SR-hGH), compared with that of daily rhGH for 12 months in children with GH deficiency (GHD).

Methods: A total of 73 children with GHD were screened and 63 eligible subjects were randomized in a 1:1 ratio of LB03002 (SR-hGH) to daily rhGH treatment group. LB03002 was administered once weekly at a dose of 0.

Spot urine albumin to creatinine ratio and serum cystatin C are effective for detection of diabetic nephropathy in childhood diabetic patients.

Spot urinary albumin to creatinine ratio (ACR) measurement has been suggested as a surrogate to 24-hr urine collection for the assessment of microalbuminuria, and cystatin C (cysC) is known as an advantageous marker for renal function. The aim of this study was to evaluate the clinical values of spot urinary ACR and serum cysC for the assessment of diabetic nephropathy instead of 24-hr urine microalbumin in children and adolescents with diabetes. A total of 113 children and adolescents (age 12-19 yr, M:F = 47:66) with type 1 or 2 diabetes were enrolled.

Susceptibility influence of a PTPN22 haplotype with thyroid autoimmunity in Koreans.

Background: Considerable amount of evidences in the Caucasians have suggested the association of a missense single-nucleotide polymorphism (SNP) in the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene (rs2476601) with several autoimmune diseases including autoimmune thyroid diseases (AITD) and type 1 diabetes (T1D). As the SNP was reported to be non-polymorphic in Asians, we attempt to explore an association of PTPN22 without restricting to the rs2476601 with AITD or T1D in Korean population.

Methods: We studied 389 T1D, 212 AITD (84 Graves' disease and 128 Hashimoto's thyroiditis) patients and 225 controls.

Evidence for the role of STAT4 as a general autoimmunity locus in the Korean population.

Background: Recently, the association of a common STAT4 haplotype with type 1 diabetes (T1D) as well as rheumatoid arthritis has been documented in Caucasians and Koreans. STAT4 is involved in the signalling of interleukin-12 and γIFN, as well as interleukin-23. To discover genes affecting the susceptibility of common autoimmune diseases, we studied the association of polymorphisms in STAT4 with autoimmune thyroid disease (AITD) as well as T1D in the Korean population.

Effects of a structured exercise program on insulin resistance, inflammatory markers and physical fitness in obese Korean children.

Thirty-eight obese Korean children (21 boys, 17 girls), whose ages were between 9 and 15, were divided into either the intervention group (19 obese children: BMI>95P) or the age- and sex-matched obese control group. The intervention group performed an intensive exercise program under the supervision of educated instructors for 12 weeks (90 minutes/day, two days/week) and received lifestyle modification counseling using food diaries and phone calls. The control group participated in conventional counseling at an out-patient clinic.

The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome.

Objective: Recombinant human growth hormone (GH) can achieve final adult height gain in girls with Turner syndrome (TS), but its efficacy varies widely across individuals. The exon 3-deleted polymorphism of growth hormone receptor (d3-GHR) has been reported to be associated with responsiveness to GH therapy. The short-term growth response of Turner patients to GH therapy was analysed according to their GHR-exon 3 polymorphism genotype.

STAT4 polymorphism is associated with early-onset type 1 diabetes, but not with late-onset type 1 diabetes.

In an effort to discover non-HLA genes affecting susceptibility to type 1 diabetes (T1D), we have investigated the association of polymorphisms in STAT4, an important signaling molecule of IL-12, gammaIFN, and IL-23, in a sample of 389 T1D patients and 152 nondiabetic controls in Korea. Four SNPs on chromosome 2q, which were recently found to be associated with rheumatoid arthritis, were examined for association and linkage disequilibrium. We found that neither alleles or genotypes among all four SNPs nor reconstructed haplotypes of the three SNPs within the same LD block (rs7574865, rs8179673, and rs10181656) were associated with susceptibility to T1D.

Predominance of the group A killer Ig-like receptor haplotypes in Korean patients with T1D.

Type 1 diabetes (T1D) is a T cell-mediated autoimmune disease in which pancreatic beta cells are selectively destroyed. Although autoimmune diseases are driven by inappropriate adaptive immunity, innate immunity may play a role in the development of T1D. To study the potential involvement of innate immunity in the pathogenesis of autoimmune disease, we investigated associations of the genes for 14 different killer Ig-like receptors (KIRs), the well-characterized receptors in natural killer cells, with Korean T1D patients.

Multiple detection of food-borne pathogenic bacteria using a novel 16S rDNA-based oligonucleotide signature chip.

There have been many attempts to develop sensitive and accurate techniques for the detection and diagnosis of pathogenic bacteria using nucleic acid-based technology. To achieve efficient multiple detection of seven selected food-borne pathogens, we assessed the respective 16S rDNA pathogen specific sequences using an oligonucleotide-based signature array. Strategic optimal design of specific capture probes was achieved by using the characteristic first variable region.

Association of the polymorphism for Toll-like receptor 2 with type 1 diabetes susceptibility.

Type 1 diabetes mellitus (T1DM) is a T cell-mediated autoimmune disease in which pancreatic beta cells are selectively destroyed. Although autoimmune diseases are driven by inappropriate adaptive immunity, innate immunity may play a role in the development of T1DM. We investigated the association of the genes for toll-like receptor 2 (TLR2), one of the key surface receptors on innate effectors, with T1DM in Korean patients.

SOX13 autoantibodies are likely to be a supplementary marker for type 1 diabetes in Korea.

The SOX13, one of the family of transcription factors that play key roles in organ development, is reported to be a diabetes autoantigen, islet cell antigen 12 (ICA12). Recently, a study of antibodies to SOX13 was conducted in patients with type 1 diabetes mellitus (T1DM) indicating that these antibodies potentially identified patients without antibodies to the major T1DM-associated autoantigens, insulin, GAD, or IA-2. We know that the prevalence of islet-specific autoantibodies (GAD, IA-2) in Korean patients is much lower than that in white patients.