PurposeWe investigated the vitamin D status of preterm infants to determine the incidence of vitamin D deficiency.MethodsA total of 278 preterm infants delivered at Kyungpook National University Hospital between January 2013 and May 2015 were enrolled. The serum concentrations of calcium, phosphorous, alkaline phosphatase, and 25-hydroxyvitamin D (25-OHD) were measured at birth. We collected maternal and neonatal data such as maternal gestational diabetes, premature rupture of membranes, maternal preeclampsia, birth date, gestational age, and birth weight.ResultsMean gestational age was 33+5±2+2 weeks of gestation and mean 25-OHD concentrations were 10.7±6.4 ng/mL. The incidence of vitamin D deficiency was 91.7%, and 51.1% of preterm infants were classified as having severe vitamin D deficiency (25-OHD<10 ng/mL). The serum 25-OHD concentrations did not correlate with gestational age. There were no significant differences in serum 25-OHD concentrations or incidence of severe vitamin D deficiency among early, moderate, and late preterm infants. The risk of severe vitamin D deficiency in twin preterm infants was significantly higher than that in singletons (odds ratio, 1.993; 95% confidence interval [CI], 1.137-3.494, P=0.016). In the fall, the incidence of severe vitamin D deficiency decreased 0.46 times compared to that in winter (95% CI, 0.227-0.901; P=0.024).ConclusionMost of preterm infants (98.9%) had vitamin D insufficiency and half of them were severely vitamin D deficient. Younger gestational age did not increase the risk of vitamin D deficiency, but gestational number was associated with severe vitamin D deficiency.

Nocturnal enuresis (NE) is one of the most common problems in childhood. NE has a multifactorial etiology and is influenced by sleep and arousal mechanisms. The aim of the present study was to prospectively evaluate sleep problems and patterns in children with NE compared with normal healthy controls. Methods: Twenty-eight children with NE and 16 healthy controls were included in the study. To evaluate sleep habits and disturbances, parents and children filled out a questionnaire that included items about sleep patterns and sleep-related behaviors prior to treatment for NE. Demographic factors and other data were compared for the two groups based on the responses to the sleep questionnaire. Results: Night awakening, sleepwalking, and periodic limb movements were more prevalent in children with NE, but symptoms of sleep-disordered breathing were not increased in this group. There were statistically significant differences in periodic limb movements and daytime sleepiness between the two groups. Conclusion: Children with NE seemed to have more sleep problems such as night awakening, sleepwalking, and periodic limb movements. In addition, a higher level of daytime sleepiness and hyperactivity in patients with NE suggested a relationship between NE and sleep disorders.

Idiopathic hypogonadotropic hypogonadism (IHH) is a disease that shows symptoms of no or incomplete sexual maturation after 18 years old. The mutation of gonadotropin releasing hormone receptor gene (GNRHR) has been reported as the cause in 16% of total IHH patients. An 18-year-old adolescent was referred to endocrinology department for hypogonadism. He was born with cryptorchidism, had small testes at the age of 7 years, and showed low testosterone levels.Management of his hypogonadism was delayed due to his uncontrolled nephrotic syndrome. There were no abnormal findings on the brain MRI; atrophied testes discovered on his pelvis MRI; low levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH), and testosterone were observed. In the HCG simulation test, testosterone levels showed no significant increase, rising from 1.11 to 1.15 ng/dL. The patient harbored a novel compound heterozygous variant of c.514G>A (p.Gly172Arg) and c.113G>A (p.Arg38Gln) in the GNRHR gene. Here, we report a case of new GNRHR compound variant c.514G>A (p.Gly172Arg) and c.113G>A (p.Arg38Gln) in a Korean adolescent for hypogonadotropic hypogonadism.

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Bacground & objective : Idiopathic infantile hypercalcemia is one of rare diseases characterizing hypercalcemia in infancy. Renal phosphate absorption in proximal tubules plays a very important role in the phosphate and calcium homeostasis. SLC34A1 is known a key regulator of renal phosphate reabsorption. SLC34A1 gene mutation is one of very uncommon causes of idiopathic infantile hypercalcemia. We have experienced a case of idiopathic infantile hypercalcemia caused by a homozygous novel variant c.1483C>T(p.Arg495Cys) of SLC34A1 gene. Materials & Methods : A study patient was 5 months-old boy. His medical records are reviewed retrospectively. Results: A 5-month-old boy was transferred to Kyungpook National University Children's Hospital because of sustained hypercalcemia with hypercalciuria. Laboratory investigations revealed a serum calcium level of 12.6 mg/dL (normal range: 9.0-10.6 ), phosphate level of 3.7 mg/dL (normal range: 4.8-8.2), serum magnesium level of 2.0 mEq/L (normal range: 1.44-3.12), intact PTH level of 0.6 pg/mL (normal range: 10-65), PTHrP <1.1pmol/L (normal range: <2.0), 25(OH)vitamin D3 level of 65 ng/mL (normal range: 8.0-51.9) and 1,25(OH) vitamin D3 level of 79 pg/mL (normal range: 25-65). Spot urine calcium/urinary creatinine ratio (mg%: mg%) was elevated 1.4 (normal level: <0.8 for infant). Targeted exome sequencing in the patient was performed, resulting in a homozygous novel variant c.1483C>T(p.Arg495Cys) of SLC34A1 gene confirmed by Sanger sequencing. Consulsions: We report a case with idiopathic infantile hypercalcemia caused by a novel variant of SLC34A1 gene mutation