An Alport syndrome boy with Van Wyk-Grumbach syndrome induced by prolonged untreated congenital hypothyroidism

Alport syndrome (AS) is a rare genetic disorder that causes progressive nephritis and is more common among males. Studies have reported an association between thyroid antibodies and hypothyroidism in patients with AS, but the relevance of this relationship is under debate. Prolonged untreated hypothyroidism induces short stature, abnormal pubertal development, and various other symptoms. However, children with long-standing hypothyroidism rarely present with signs of precocious puberty, or Van Wyk-Grumbach syndrome (VWGS). We report the case of a boy, 8 years and 4 months old, who had VWGS caused by prolonged untreated congenital hypothyroidism and AS. The boy had repeated gross hematuria and proteinuria and was diagnosed with AS by renal biopsy and genetic testing. He had normal renal function but severe growth retardation and hypothyroidism. Obesity, bone age delay, hyperlipidemia, and abnormal increased testicle size were also present due to prolonged untreated hypothyroidism. His thyroid antibody titer elevation was unclear, although ultrasonography and thyroid scanning showed a decrease in thyroid volume. We diagnosed the patient with congenital hypothyroidism caused by thyroid dysgenesis. VWGS was diagnosed due to hypothyroidism, delayed bone age, and pseudoprecocious puberty. To the best of our knowledge, this is the first report of a prepubertal Korean boy with prolonged untreated congenital hypothyroidism complicated by VWGS in AS.

Severe vitamin D deficiency in preterm infants: maternal and neonatal clinical features / 소아과

PURPOSE: We investigated the vitamin D status of preterm infants to determine the incidence of vitamin D deficiency. METHODS: A 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. RESULTS: Mean 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). CONCLUSION: Most 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.