ObjectivesDyslipidemia is one of the important modifiable risk factors for cardiovascular disease. Thus, to know the prevalence of dyslipidemia is the 1st step to make guidelines of screening and management plan. Although, American Academy of Pediatrics updated the guidelines for lipid in childhood, Asian study is rare.MethodsThe authors aimed to make a reference of each serum lipid level of Korean children and adolescents (2,363 subjects aged 10 to 18 years) from the data of Korea National Health and Nutrition Examination Survey IV (2007–2009).ResultsThe mean serum concentrations for total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), triglycerides (TG), and high-density lipoprotein cholesterol (HDL-C) were 158 mg/dL, 90 mg/dL, 90 mg/dL, and 49 mg/dL, respectively. The 95th percentile values for TC, LDL-C, and TG were 203 mg/dL, 129 mg/dL, and 185 mg/dL, respectively. The 5th percentile value for HDL-C was 36 mg/dL. The prevalence of hypercholesterolemia, high LDL-C, high TG, and low HDL-C was 6.5%, 4.7%, 10.1%, and 7.1%, respectively. Considering the risk factors such as obesity, hypertension, smoking, and diabetes, approximately 0.41% of the subjects were potentially eligible for pharmacological treatment.ConclusionsThis information may be useful in not only Korean but also Asian planning programs for the prevention of cardiovascular disease through lipid control from childhood.

PurposeCongenital hypothyroidism (CH) is the most common cause of preventable mental retardation. Recently, the detection of CH cases with eutopic thyroid gland has increased due to neonatal screening programs. In this study, we aimed to identify and evaluate predictive factors that could distinguish between permanent and transient CH in patients with eutopic thyroid gland.MethodsWe retrospectively reviewed 100 children diagnosed with CH and with eutopic thyroid gland. All subjects were treated with levothyroxine and underwent re-evaluation after 3 years of age.ResultsOf the 100 CH patients, 35 (35.0%) were diagnosed with permanent CH (PCH) and 65 (65.0%) were diagnosed with transient CH (TCH). The initial thyroid stimulating hormone levels were significantly lower in the TCH subjects than in PCH subjects. In addition, the mean doses of levothyroxine (µg/kg/day) at the 1st, 2nd, and 3rd year of treatment were significantly lower in subjects with TCH than in PCH subjects with eutopic thyroid gland. Based on the receiver operating characteristic (ROC) curve, the optimal cutoff dose of levothyroxine at 3 years of 2.76 µg/kg/day could predict TCH, and was associated with 87.3% sensitivity and 67.6% specificity, with an area under the ROC curve of 0.769.ConclusionThe levothyroxine dose requirement during treatment period has a predictive role in differentiating TCH from PCH in CH patients with eutopic thyroid gland.

Early menarche increased the risk of Type 2 diabetes in young and middle-aged Korean women although adulthood adiposity attenuated the relationship. Knowledge of age at menarche is important in identifying women at risk for diabetes.

Mutations of MKRN3, the gene encoding makorin RING-finger protein 3, lead to central precocious puberty (CPP). The aim of this study was to investigate mutations of the MKRN3 gene in Korean girls with CPP. Two hundred-sixty Korean girls with idiopathic CPP were included. Auxological and endocrine parameters were measured, and the entire MKRN3 gene was directly sequenced. MKRN3 gene analysis revealed one novel nonsense mutation (p.Gln281 *) and 6 missense variants (p.Ile100Phe, p.Gly196Val, p.Ile204Thr, p.Gln226Pro, p.Lys233Asn, and p.Ser396Arg). The novel nonsense mutation (p.Gln281 *) was a heterozygous C>T nucleotide change (c.841C>T) predicted to result in a truncated protein due to a premature stop codon in the MKRN3 gene. The nonsense mutation (p.Gln281 *) was only identified in one of the girls and her younger brother. Compared to previous reports on MKRN3 mutations in familial and sporadic cases of CPP, the present study reveals a relatively low number of MKRN 3 mutations in Korean girls with CPP. Larger samples of children with CPP and MKRN3 mutations are necessary in order to clarify whether the clinical course of puberty may differ as compared to idiopathic CPP.

PurposeVitamin D deficiency has been linked to chronic diseases, such as diabetes mellitus, obesity and autoimmune disease. However, data on the vitamin D status and its association with precocious puberty in girls are limited. We aimed to investigate the association between serum 25-hydroxyvitamin D (25OHD) and precocious puberty in girls.MethodsA total of 60 girls with central precocious puberty (CPP) and 30 control girls were enrolled. Anthropometric measurement and serum level of 25OHD were estimated for all subjects.ResultsThere was a significant difference in the mean serum 25OHD concentration between the precocious puberty group and the control group (17.1±4.5 ng/mL vs. 21.2±5.0 ng/mL, P<0.05). Forty-two of the 60 girls with CPP (70%) had vitamin D deficiency (defined as serum 25OHD<20 ng/mL) and 18 (30%) had vitamin D insufficiency. Of the 30 girls in the control group, vitamin D deficiency was seen in 13 subjects (43.3%), 15 subjects (50%) had vitamin D insufficiency, and 2 subjects (6.7%) had sufficient serum vitamin D (defined as serum 25OHD>30 ng/mL). Vitamin D deficient girls had a significantly higher odds ratio (OR, 3.05; 95% CI, 1.22-7.57, P=0.021).ConclusionThese results showed that vitamin D levels may be associated with precocious puberty. Further studies are required to establish the potential effect of vitamin D status on puberty.

The hallmark of puberty is the progressive increase in gonadotropin-releasing hormone (GnRH) activity, reflected by an increase in the circulating concentration of luteinizing hormone (LH). The GnRH stimulation test is widely used in the evaluation of precocious puberty. The aim of our study was to assess the diagnostic utility of basal LH for the diagnosis of central precocious puberty (CPP) in girls. A total of 803 girls were referred to Ajou University Hospital for evaluation of precocious puberty between 2008 and 2011. All subjects underwent GnRH-stimulation tests as part of their evaluation. Serum LH and follicle stimulating hormone (FSH) were measured by immunoradiometric assay before and after the GnRH injection. Of the 803 subjects, 505 (62.9%) were included in the pubertal response group and 298 (37.1%) were in the prepubertal response group. Basal LH level was identified as a significant predictor for CPP. Based on the ROC curve, the optimal cut off point of basal LH related to 'pubertal response' was 1.1 IU/l, which was associated with 69.1% sensitivity and 50.5% specificity, with an area under the ROC curve of 0.620 (95% CI, 0.581-0.660). It is concluded that a single basal LH measurement can be used as a screening test to identify girls with CPP and to determine who should undergo GnRH stimulation test.

Background: The diagnosis of growth hormone (GH) deficiency is based on a reduced peak GH response to provocative tests. However, the provocative tests are poorly reproducible and GH secretion is regulated by physiological parameters, such as body weight and puberty. The aim of this study was to assess the influence of body mass index (BMI) on GH response to provocative testing and to analyze the reproducibility of GH stimulation test. Methods: Clinical data were collected retrospectively by chart review from the Pediatric Endocrine Unit at the Ajou University Hospital. A total of 187 subjects with short stature who completed a GH stimulation testing between 2003 and 2009 were included in the study. Results: Of the 187 subjects, 66 (35.3%) had GH deficiency, while 121 (64.7%) were categorized as having idiopathic short stature. Reliability was calculated for 48 patients with idiopathic short stature who underwent the GH stimulation test twice. A GH response ≧10 ng/ml after retesting was found in 39 patients (81.3%) and a GH response <10 ng/ml was found in 9 patients (18.7%). In a stepwise multivariate analysis, BMI was a significantly independent predictor of peak GH. Elevated BMI was negatively associated with peak plasma GH levels. Conclusions: The lack of reliability of GH values in response to pharmacological stimuli should be taken into account in the diagnosis of GH deficiency. Also, higher BMI is associated with lower GH secretion. BMI should be measured and GH results appropriately interpreted for all subjects undergoing GH stimulation testing.

Pubertal onset is known to result from reactivation of the hypothalamic-pituitary-gonadal (HPG) axis, which is controlled by complex interactions of genetic and nongenetic factors.Most cases of precocious puberty (PP) are diagnosed as central PP (CPP), defined as premature activation of the HPG axis. The cause of CPP in most girls is not identifiable and, thus, referred to as idiopathic CPP (ICPP), whereas boys are more likely to have an organic lesion in the brain. ICPP has a genetic background, as supported by studies showing that maternal age at menarche is associated with pubertal timing in their offspring. A gain of expression in the kisspeptin gene (KISS1), gain-of-function mutation in the kisspeptin receptor gene (KISS1R), loss-of-function mutation in makorin ring finger protein 3 (MKRN3), and loss-of-function mutations in the delta-like homolog 1 gene (DLK1) have been associated with ICPP. Other genes, such as gamma-aminobutyric acid receptor subunit alpha-1 (GABRA1), lin-28 homolog B (LIN28B), neuropeptide Y (NPYR), tachykinin 3 (TAC3), and tachykinin receptor 3 (TACR3), have been implicated in the progression of ICPP, although their relationships require elucidation. Environmental and socioeconomic factors may also be correlated with ICPP. In the progression of CPP, epigenetic factors such as deoxyribonucleic acid (DNA) methylation, histone posttranslational modifications, and noncoding ribonucleic acids may mediate the relationship between genetic and environmental factors. CPP is correlated with short-and longterm adverse health outcomes, which forms the rationale for research focusing on understanding its genetic and nongenetic factors.