Objective: Both asthma and vitamin D deficiency are common among children. The results from studies examining the relationship between them are contradictory. The aim of this study is to determine the relationship between the clinical parameters of asthma and vitamin D status in children. Methods: One hundred and twenty children diagnosed with asthma and followed-up in our hospital were included in the study. The control group included 74 children with no evidence of allergic disease. The eosinophil counts, IgE levels and serum 25 OH cholecalciferol [25(OH)D] levels were measured. Results: The patient group consisted of 73 (60.8%) males and 47 (39.2%) females with a mean age of 4.4 ± 1.2 years. There was no significant difference between the patient and control groups with respect to gender and age. The mean 25(OH)D level was 21.49 ± 7.74 ng/ml in the study group and 23.94 ± 8.97 ng/ml in the control group, and this difference was not significant (p = 0.094). The patients with asthma were grouped according to their vitamin D status as ‘deficient' (group 1), ‘insufficient' (group 2) and ‘normal' (group 3). The sociodemographic features, duration of illness, number of hospitalizations, number of sensitivities to allergens, eosinophil count and serum IgE levels were not found to be different between the groups. However, the total number of exacerbations, asthma severity and systemic glucocorticoid need in the previous year were significantly higher in the deficiency group (p < 0.05). Conclusion: Vitamin D levels were not significantly different in patients with asthma. Vitamin D deficiency was common in the study group as well as in the control group. The clinical severity of disease, the number of exacerbations and the systemic glucocorticoid need were related to vitamin D level. © 2014 S. Karger AG, Basel

46,XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder of sexual development. This syndrome is caused by a defect in the determination of sex during embryogenesis and is characterised with female external genitalia, normal or rudimentary uterus, and streak gonads, despite the presence of the 46,XY karyotype. Most of the studied cases presented with leak of secondary sex characteristics and primary amenorrhea during adolescence. Laboratory findings reveal hypergonadotropic hypogonadism. Herein we present the case of a female with a 46,XY karyotype who was admitted with delayed puberty and detected to have a microdeletion in the SRY gene and diagnosed to have Swyer syndrome. We highlight the importance of karyotype analysis in patients with delayed puberty and primary amenorrhea. Once the diagnosis of 46,XY complete gonadal dysgenesis is established, early laparoscopic removal of the dysgenetic gonads is crucial to prevent the development of gonadal malignancy.

Objective: Developmental defects of the thyroid gland are the most frequent causes of permanent congenital hypothyroidism. This study aimed to investigate the epidemiological features of patients with thyroid dysgenesis (TD).Methods: Medical records of 234 patients with TD followed between the years 2008 and 2010 were evaluated retrospectively. Diagnosis was made by ultrasonography.Results: Of 234 patients, 120 (51.3%) were male and 114 (48.7%) were female. Male to female ratio was 1.08 and there were no significant differences in epidemiologic and clinical findings between girls and boys. One hundred eighty-three patients (78.2%) were diagnosed as hypoplasia, 35 (14.9%) as thyroid agenesis, 4 as ectopic thyroid gland and 12 as hemiagenesis. The mean maternal age of the group was 28.9±0.4 years (range 18 to 45 years), which is significantly higher than the recently reported mean maternal ages for Turkish women.Conclusions: Advanced maternal age was more prevalent in patients with TD. Our clinical and epidemiologic findings suggested no evidence of sexual dimorphism. Conflict of interest:None declared.

Perrault syndrome (PRLTS) is a heterogeneous group of clinical and genetic disorders characterized by sensory neuronal hearing loss in both sexes and premature ovarian failure or infertility in females. Neurological and hearing loss symptoms appear early in life, but female infertility cannot be detected before puberty. Spastic limbs, muscle weakness, delayed puberty and irregular menstrual cycles have also been observed in PRLTS patients. Mutations in five genes, i.e. HSD17B4, HARS2, CLPP, LARS2, and C10orf2, have been reported in five subtypes of PRLTS. Here, we report a milder phenotype of PRLTS in a Turkish family in which two affected patients had no neurological findings. However, both were characterized by sensory neuronal hearing loss and the female sibling had secondary amenorrhea and gonadal dysgenesis. Genome-wide homozygosity mapping using 300K single-nucleotide polymorphism microarray analysis together with iScan platform (Illumina, USA) followed by candidate gene Sanger sequencing with ABI 3500 Genetic Analyzer (Life Technologies, USA) were used for molecular diagnosis. We found a novel missense alteration c.624C>G; p.Ile208Met in exon 5 of the CLPP at chromosome 19p13.3. This study expands the mutation spectrum of CLPP pathogenicity in PRLTS type 3 phenotype.

The study revealed significantly higher TFO, lower Schirmer test scores and changes in conjunctival cytology in diabetic children. Altered ocular surface changes in diabetic children may be due to the result of increased TFO.