Krogsgaardacosta8235

512C>T (p.Ala171Val), in both the proband and his father. Short stature is generally associated with a delayed bone age, and this case suggests that ACAN mutations may be the most likely etiology among patients with short stature and an advanced bone age and should warrant early treatment.

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).

Data were acquired from the 5th Korea National Health and Nutrition Examination Survey (2010-2011). Participants ranged from 10 to 17 years of age and underwent fasting plasma glucose, insulin concentration, and lipid panel measurements. High fasting plasma insulin levels or increased homeostatic model assessment insulin resistance (HOMA-IR) were defined as IR. We analyzed MS and IR frequencies according to FCOP or ACOP.

Among 719 participants, 165 (22.9%) were overweight or obese based on their body mass index. Brefeldin A ATPase inhibitor We found no prevalence of MS in underweight/normal weight participants and 12.7% prevalence rate in overweight or obese participants. IR according to ACOP was more closely associated with MS than IR according to FCOP. No differences were found in predicting the frequency of MS using FCOP or ACOP in both fasting plasma insulin and HOMA-IR.

The frequency of MS in participants with IR defined using ACOP and FCOP was similar. However, IR using ACOP was more closely associated with MS than IR using FCOP.

The frequency of MS in participants with IR defined using ACOP and FCOP was similar. However, IR using ACOP was more closely associated with MS than IR using FCOP.The gonadotropin-releasing hormone (GnRH) stimulation test is a valuable tool in diagnosing and differentiating causes of early pubertal occurrences. Utility of the test can be limited in some instances, however, including the early phases of pubertal hypothalamic-pituitary-gonadal axis activation, in girls showing commonly overlapping pictures, and in obese children due to excess circulating estrogen that suppresses luteinizing hormone (LH). A lack of consistent baseline and stimulated gonadotropin cutoffs observed in different studies also contributes to limitations in testing. Nevertheless, early detection of true pathological causes for pubertal disorders is needed to allow prompt treatment and better prognosis. While basal LH can be beneficial as a good screening tool for detecting pubertal disorder, it does not preclude the need for GnRH testing. The aim of this review was to highlight the role of GnRH stimulation tests and varying testing cutoffs in diagnosis of precocious puberty and its classification.

The discriminatory performance of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein-3 (IGFBP-3) was investigated by correlating their values with chronological age (CA), bone age (BA), and pubertal status (PS) for diagnosis of isolated growth hormone deficiency (IGHD).

We evaluated IGF-1 and IGFBP-3 levels in 310 short-stature subjects subdivided into 2 groups IGHD (n=31) and non-IGHD (n=279). IGF-1 and IGFBP-3 were assayed using immune-radiometric assay and transformed into standard deviation score (SDS) according to CA, BA, and PS.

The highest sensitivity was found in IGF-1-SDS for CA and IGFBP-3-SDS for CA (22.6% and 30.0%, respectively). The highest specificity was found in IGF-1-SDS for PS and IGFBP-3-SDS for PS (98.2% and 94.4%, respectively). Groups with the highest positive predictive values were IGF-1-SDS for BA and IGFBP-3-SDS for BA (10.9% and 5.1%, respectively). Highest negative predictive values were seen in IGF-1-SDS for CA and IGFBP-3-SDS for CA (98.4% and 98.4%, respectively).

IGF-1-SDS for CA, instead of IGF-1-SDS for BA or PS, could be used as a standard variable for IGHD screening. The sufficiently high specificity of IGF-1-SDS for PS suggests that this value is a useful tool for identification of IGHD.

IGF-1-SDS for CA, instead of IGF-1-SDS for BA or PS, could be used as a standard variable for IGHD screening. The sufficiently high specificity of IGF-1-SDS for PS suggests that this value is a useful tool for identification of IGHD.

This study aims to investigate the effect of gonadotropin-releasing hormone agonist (GnRHa) on the growth hormone (GH)-insulin-like growth factor-1 (IGF-1) axis and to evaluate whether -202 A/C IGF binding protein-3 (IGFBP-3) promoter polymorphism affects growth velocity in females with central precocious puberty (CPP) during treatment.

Data was collected from 97 females younger than 9 years, diagnosed with precocious puberty and treated with GnRHa for at least 1 year at Kangdong Sacred Heart Hospital from 2014 to 2015. Their body height, weight, change in height standard deviation score (∆SDS), serum IGF-1, serum IGFBP-3, bone age, and -202 A/C IGFBP-3 promoter polymorphism were measured before and after GnRHa treatment. The interrelationships between the variables were calculated.

During treatment, height SDS, IGF-1 SDS, IGFBP-3 SDS, and IGF-1/IGFBP-3 ratio significantly decreased. A significant correlation was observed between ∆IGF-1 SDS and ∆height SDS (r=0.405, P<0.001). The presence of the C allele was significantly correlated with IGF-1 SDS after treatment (P=0.049) and with IGFBP-3 SDS before and after treatment (P=0.012 and P=0.001), but not with ∆IGF-1 SDS, ∆IGFBP-3 SDS, ∆IGF-1/IGFBP-3 ratio, or ∆height SDS.

Growth velocity during GnRHa treatment is related to ∆IGF-1 SDS, indicating the apparent impact of GnRHa on the GH-IGF-1 axis. The -202 A/C IGFBP-3 promoter polymorphism does not affect the growth velocity of GnRHa in CPP girls.

Growth velocity during GnRHa treatment is related to ∆IGF-1 SDS, indicating the apparent impact of GnRHa on the GH-IGF-1 axis. The -202 A/C IGFBP-3 promoter polymorphism does not affect the growth velocity of GnRHa in CPP girls.

Autosomal dominant hypocalcemia with hypercalciuria (ADHH) is a genetic disease characterized by hypoparathyroidism with hypercalciuria. We discovered a novel activating variant (p.Tyr825Phe) of the CaSR gene in a neonate with congenital hypoparathyroidism and hypercalciuria then conducted a cell function study to prove that the CaSR variant (p.Tyr825Phe[Y825F]) is pathogenic.

To perform a functional study on CaSR-Y825F, we constructed expression vectors for CaSR-wild type(WT) and CaSR-Y825F. After transfection of each expression vector into HEK293 cells, we observed alterations in intracellular signaling. Then the MAP kinase signaling activity of the wild-type (CaSR-WT) and mutant type (CaSR-p.Tyr825Phe [CaSR-Y825F]) HEK293 cells was determined. Changes in intracellular calcium ions ([Ca2+]i) by extracellular calcium ion ([Ca2+]e) stimulation were quantitatively compared and analyzed.

CaSR-Y825F showed elevated of MAP kinase signaling (pERK, pJNK, pp38) and increased [Ca2+]i levels at low [Ca2+]e stimulation.