The aim of the present study is to clarify the low density lipoprotein apheresis procedure for pediatric patients with homozygous familial hypercholesterolemia (FH) in terms of efficacy, adverse effects and difficulties. The follow-up was carried out using an open, prospective uncontrolled clinical design. Data were collected from 10 patients (with an average age of 8.4 +/- 4.7 years) with FH treated with double filtration plasmapheresis. The total time span of follow-up covered five years (30.2 +/- 17.8 months [range 9-60 months]) and more than 600 sessions (62.1 +/- 35.5 sessions per patient [range 18-120 sessions]) were evaluated. The mean low density lipoprotein cholesterol (LDL-C) pre-treatment value was 375.5 +/- 127.5 mg/dL, and the post-treatment value was 147.5 +/- 73.9 mg/dL. This corresponded to a 62.8 +/- 10.3% (43-73%) acute reduction of LDL-C, while the mean high density lipoprotein cholesterol losses amounted to 41%. The chronic reduction in LDL-C ranged from 18 to 52%, with a mean level of 36.4 +/- 11.7%. The most frequently occurring technical problems were related to blood lines: puncture difficulties (4.5%), insufficient blood flow (3.5%), and obturation of the blood lines (2.4%). The main clinical adverse effects were hypotension (0.2%), chills/feeling cold (0.1%), and nausea and vomiting (0.2%). We observed that the low pediatric patient tolerance is the main problem in compliance with treatment. In conclusion, LDL apheresis, started under the age of eight years, combined with lipid-lowering drugs, provides a safe and effective lowering of the mean LDL-C levels in pediatric homozygous FH; and there are more problems with compliance for pediatric LDL apheresis than in the adult population.

Objective: The aim of this study was to evaluate the clinical course of Hashimoto’s thyroiditis (HT) in children and adolescents and the effects of levothyroxine therapy on the clinical course and laboratory findings. Methods: The clinical and laboratory data of 101 patients with HT at presentation and during a three-year follow-up period were retrospectively evaluated using patient records. Results: The mean age of the patients at the time of diagnosis was 12.3±2.90 years and female/male ratio was 5.7/1. The complaint at the time of hospital presentation was goiter in 57.8% of the patients. At baseline, 36.7% of the patients were euthyroid, whereas 32.7% had subclinical hypothyroidism, 16.6 % of subjects were evaluated as hypothyroid. Twelve of the 28 patients who were initially euthyroid and not receiving therapy developed subclinical or overt hypothyroidism during the first 18 months of the follow-up period and were started on thyroid medication. At presentation, the mean anti-thyroglobulin (anti-Tg) and anti-thyroperoxidase antibody levels were 450±725 IU/mL and 392±428 IU/mL, respectively and at the end of the follow-up period, a significant decrease was observed in the anti-Tg levels of patients receiving levothyroxine from the beginning. Conclusions: Thyroid functions of the patients with HT should be monitored periodically for hypothyroidism. Levothyroxine therapy may positively affect the clinical course of the disease and the antibody titers. Conflict of interest:None declared.

Background/Aim: The exon 3-deleted/full-length (d3/fl) growth hormone (GH) receptor (GHR) polymorphism has been associated with responsiveness to GH therapy in some diagnostic groups. However, there are still controversies on this issue. To evaluate the effect of the GHR exon 3 polymorphism on growth after 1 and 2 years of GH therapy in Turkish patients with GH deficiency (GHD) and Turner’s syndrome (TS) and the distribution of GHR exon 3 isoforms. Materials and Methods: 218 patients with GHD (125 males/93 females) and 43 patients with TS were included in the study. The control group included 477 healthy adults aged from 18 to 57 years (54 females/423 males). Anthropometric parameters and insulin-like growth factor (IGF)-1 and IGF binding protein (IGFBP)-3 were evaluated annually. GHR isoforms were studied using simple multiplex PCR. Height and body mass index were expressed as standard deviation score (SDS). Results: There were no differences among TS, GHD and healthy adults regarding the distribution of GHR exon 3 isoforms (fl/fl, fl/d3 and d3/d3). There was a significant increase in height SDS in both diagnostic groups on GH therapy; however, there were neither differences in height SDS and Δheight velocity between fl/fl, fl/d3 and d3/d3 groups nor a correlation between the distribution of GHR exon 3 isoforms and change in IGF-1 SDS and IGFBP-3 SDS levels on GH therapy in either of the diagnostic groups. There was also no gender difference in GHR isoforms in healthy adults. Conclusion: The results suggest that responsiveness to GH therapy does not depend on the exon 3 GHR genotypes in GHD and TS patients.

The present study aims to evaluate the effects of pesticides on premature breast development. Forty-five girls (group 1) with premature breast development living in the Menderes region, where greenhouse cultivation is the main income, 16 girls (group 2) living in Izmir city with early puberty, and 33 girls (group 3) who had no signs of puberty were included in the study. Endosulphan 1, endosulphan 2, endosulphan sulphate, methoxychlor, vinclozolin, 4,4-dichlorodiphenyldichlorethylene (DDE), 4,-dichlorodiphenyltrichloroethane (DDT), and 2,4-DDT were evaluated in the serum and adipose tissues of the groups by using a gas chromatography-mass spectrometry method. With the exception of 4,4'-DDE, the pesticides studied were undetectable in the serum and adipose tissue samples. The levels of basal luteinizing hormone (LH), stimulated LH, follicle-stimulating hormone, and the long axis of the uterus and both ovaries were significantly different in the girls who had premature thelarche and detectable 4,4'-DDE levels compared to the girls who had premature thelarche and undetectable 4,4'-DDE levels in serum and adipose tissues. The presence and levels of pesticides in serum and adipose tissues were not related to precocious puberty (PP). The mechanisms that lead to PP may also result in obesity, and obesity may be the underlying cause for PP in this group.

Objective: Epidemiologic and clinical features of type 1 diabetes mellitus (T1DM) may show substantial differences among countries. The primary goal in the management of T1DM is to prevent micro- and macrovascular complications by achieving good glycemic control. The present study aimed to assess metabolic control, presence of concomitant autoimmune diseases, and of acute and long-term complications in patients diagnosed with T1DM during childhood and adolescence. The study also aimed to be a first step in the development of a national registry system for T1DM, in Turkey.Methods: Based on hospital records, this cross-sectional, multicenter study included 1 032 patients with T1DM from 12 different centers in Turkey, in whom the diagnosis was established during childhood. Epidemiological and clinical characteristics of the patients were recorded. Metabolic control, diabetes care, complications, and concomitant autoimmune diseases were evaluated.Results: Mean age, diabetes duration, and hemoglobin A1c level were 12.5±4.1 years, 4.7±3.2 years, and 8.5±1.6%, respectively. Acute complications noted in the past year included ketoacidosis in 5.2% of the patients and severe hypoglycemia in 4.9%. Chronic lymphocytic thyroiditis was noted in 12%, Graves’ disease in 0.1%, and celiac disease in 4.3% of the patients. Chronic complications including neuropathy, retinopathy, and persistent microalbuminuria were present in 2.6%, 1.4%, and 5.4% of the patients, respectively. Diabetic nephropathy was not present in any of the patients. Mean diabetes duration and age of patients with neuropathy, retinopathy and microalbuminuria were significantly different from the patients without these long-term complications (p<0.01). A significant difference was found between pubertal and prepubertal children in terms of persistent microalbuminuria and neuropathy (p=0.02 and p<0.001, respectively). Of the patients, 4.4% (n:38) were obese and 5% had short stature; 17.4% of the patients had dyslipidemia, and 14% of the dyslipidemic patients were obese.Conclusions: Although the majority of the patients in the present study were using insulin analogues, poor glycemic control was common, and chronic complications were encountered.Conflict of interest:None declared.