Objectives-We aimed to investigate the differences between spectral Doppler and Superb Microvascular Imaging (SMI; Canon Medical Systems, Tokyo, Japan) findings in children with Hashimoto thyroiditis (HT) and Graves disease (GD) compared to healthy control participants.Methods-The study included 34 patients with GD, 37 patients with HT, and 22 healthy volunteers. All patients with HT and 11 patients with GD were euthyroid; 23 patients with GD had symptoms of hyperthyroidism and had thyrotropin values of less than 0.5 mIU/L. Thyroid volumes, mean resistive indices, and peak systolic velocities along with vascularity indices (VIs) on Superb Microvascular Imaging were measured.

Objective:17α-hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), characterized by hypertension and varying degrees of ambiguous genitalia and delayed puberty. The disease is associated with bi-allelic mutations in the CYP17A1 gene located on chromosome 10q24.3. We aimed to present clinical and genetic findings and follow-up and treatment outcomes of 17OHD patients.Methods:We evaluated six patients with 17OHD from five families at presentation and at follow up. Standard deviation score of all auxological measurements was calculated according to national data and karyotype status. CYP17A1 gene sequence alterations were investigated in all patients.Results:The mean (±standard deviation) age of patients at presentation and follow-up time was 14.6±4.2 and 5.0±2.7 years respectively. Five patients were referred to us because of delayed puberty and primary amenorrhea and four for hypertension. One novel single nucleotide insertion leading to frame shift and another novel variant occurring at an ultra rare position, leading to a missense change, are reported, both of which caused 17OHD deficiency. Steroid replacement was started. The three patients with 46,XY karyotype who were raised as females underwent gonadectomy. Osteoporosis was detected in five patients. Four patients needed antihypertensive treatment. Improvement in osteoporosis was noted with gonadal steroid replacement and supportive therapy.Conclusion:17OHD, a rare cause of CAH, should be kept in mind in patients with pubertal delay and/or hypertension. Patients with 46,XY who are raised as females require gonadectomy. Due to late diagnosis, psychological problems, gender selection, hypertension and osteoporosis are important health problems affecting a high proportion of these patients.

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Antiepileptic drugs (AED) have potential side effects through vitamin-D. Prevalence of vitamin D insufficiency and potential risk factors for the longitudinal changes of vitamin D levels compared to its baseline levels under AED treatment were investigated in this study. This retrospective study includes patients whose AED therapy were started in only autumn months, between 2000 and 2014. Detailed assessment of neurologic diagnosis and brain MRI findings, ambulatory status, types and durations of AED treatment, and baseline bone health blood tests (vitamin-D, alkaline phosphatase, calcium, and phosphate levels) were obtained on all patients. Vitamin-D deficiency was defined as 25(OH)D <20 ng/mL, while vitamin-D insufficiency was defined as 25(OH)D between 21 and 29 ng/mL. A total of 172 children (mean age 9.6 ± 4.3 years) were followed up 5.3 years in average (range 1-14.7). The mean baseline 25(OH)D level was decreased from 24.4 ± 11.6 to 19.6 ± 10.7 ng/mL at the last follow up. The mean change in the vitamin-D levels (ΔD-vitamin) was -4.8 ng/mL (p = 0.003). The rate of vitamin-D deficiency was 54% and insufficiency was 25%. Multivariate logistic regression analysis identified only long-term use of AEDs as a risk factor for the longitudinal decrease. Monotherapy with valproic acid (n = 45), carbamazepine (n = 20), levetiracetam (n = 10) and phenobarbital (n = 12) was compared with each other. There was no difference in terms of longitudinal changes in 25(OH)D levels. In the treatment of childhood epilepsy, 25(OH)D levels should be monitored, especially when long-term AED used, in order to prevent D-hypovitaminosis.

Hypophosphatemic rickets (HR) is a rare renal phosphate wasting disorder commonly with X-linked inheritance. There is no nationwide data on HR with initial and follow-up findings. The age of diagnosis was similar in good and bad responders to conventional therapy. Good responders had better height standard deviation score on admission. Higher treatment doses led to nephrocalcinosis without any change in serum levels of phosphorus. Awareness of the importance of early diagnosis and treatment complications should be improved.

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Objective: To investigate clinical characteristics and response to growth hormone (GH) treatment in patients with Prader-Willi syndrome (PWS) in Turkey. Methods: The data of 52 PWS patients from ten centers was retrospectively analyzed. A nation-wide, web-based data system was used for data collection. Demographic, clinical, genetic, and laboratory data and follow-up information of the patients were evaluated. Results: The median age of patients at presentation was 1.5 years, and 50% were females. Genetic analysis showed microdeletion in 69.2%, uniparental disomy in 11.5%, imprinting defect in 1.9% and methylation abnormality in 17.3%. Hypotonia (55.7%), feeding difficulties (36.5%) and obesity (30.7%) were the most common complaints. Cryptorchidism and micropenis were present in 69.2% and 15.3% of males, respectively. At presentation, 25% had short stature, 44.2% were obese, 9.6% were overweight and 17.3% were underweight. Median age of obese patients was significantly higher than underweight patients. Central hypothyroidism and adrenal insufficiency were present in 30.7% and 4.7%, respectively. Hypogonadism was present in 75% at normal age of puberty. GH treatment was started in 40% at a mean age of 4.7±2.7 years. After two years of GH treatment, a significant increase in height SDS was observed. However, body mass index (BMI) standard deviation (SDS) remained unchanged. Conclusion: The most frequent complaints were hypotonia and feeding difficulty at first presentation. Obesity was the initial finding in 44.2%. GH treatment was started in less than half of the patients. While GH treatment significantly increased height SDS, BMI SDS remained unchanged, possibly due to the relatively older age at GH start.