Search

Abstract  Hungry bone syndrome (HBS), i.e., persistent hypocalcemia and hypophosphatemia as a result of extensive remineralization, is rarely encountered in children after parathyroid surgery. Herein, we report a 12-year-old girl who was diagnosed to have an ectopic parathyroid adenoma, and HBS was observed in the postsurgical follow-up. The diagnosis and the risk factors are discussed in the light of the literature. [ABSTRACT FROM AUTHOR]

Background Polycystic ovary syndrome (PCOS), whose genetic basis is not completely well understood, is the most common endocrine disorder in women and it typically develops during adolescence. The aim of this study is to investigate the possible association between single nucleotide polymorphisms (SNPs) of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes and PCOS in adolescent girls. Methods DNA samples from forty-four adolescent girls with PCOS and 50 healthy controls were analyzed by PCR-RFLP and direct DNA sequencing to determine the genotypic frequency of 17 different polymorphic loci on the FSHR (A307T, N680S), CYP17 (-34 T/C), CYP1A1 (T6235C), CAPN10 (44, 43, 19, 63), INSR (exon 17 C/T), SERPINE1 (4G/5G) genes. Genotyping of exon 12 (six polymorphisms) and intron 12 (one polymorphism) of INSR gene by direct DNA sequencing was performed for the first time in this study. Results No significant differences were observed in the genotype and allele distributions of above mentioned polymorphisms between cases and control groups. Conclusion Our data does not support an association between SNPs of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes and susceptibility to PCOS or related traits in Turkish adolescent girls. [ABSTRACT FROM AUTHOR]

Leptin may contribute to renal pathology in some situations by stimulating transforming growth factor-β1 (TGF-β1) synthesis. The soluble leptin receptor (sOb-R) is a transport protein contributing to binding and activation of circulating leptin. We investigated the interaction between serum and urinary leptin, TGF-β1, and serum sOb-R levels in 38 patients with minimal change nephrotic syndrome (MCNS) aged between 6 and 12 years and 10 age- and sex-matched healthy controls (group III). Patients were divided into two groups: group I, proteinuria exceeding >40 mg/m[sup 2] per hour and group II, patients in remission. Serum leptin levels in group I were significantly lower than those in group II and group III (P=0.011, P=0.007, respectively). There was a negative correlation between serum leptin levels and proteinuria (r=–0.52, P=0.02) as well as between serum leptin and sOb-R levels (r=–0.82, P=0.000) in group I. Urine leptin and sOb-R levels in group I were significantly higher than in group II (P=0.0021, P=0.001, respectively) and group III (P=0.07, P=0.009, respectively). Serum TGF-β1 levels in healthy controls (406±424 pg/ml) were significantly lower than those in groups I and II (P=0.004, P=0.000, respectively). However, no significant correlation was found between the serum TGF-β1 and leptin levels in MCNS patients. In conclusion, low serum leptin, high serum TGF-β1 and sOb-R levels, and elevated urine leptin concentrations were observed at the onset of MCNS. Since long-term proteinuria and leptinuria might be associated with the progression of renal damage, future in vivo and in vitro studies are needed to explain the interaction between these parameters in different types of nephrotic syndrome. [ABSTRACT FROM AUTHOR]