Type 1 diabetes mellitus associated with autoimmune thyroid disease, celiac disease and familial Mediterranean fever: case report.

It is known that type 1 diabetes mellitus (type 1 DM) may be associated with other autoimmune diseases. Recently, a patient with an association of type 1 DM and familial Mediterranean fever (FMF) was reported in the medical literature. A 10.5-year-old boy was brought to our clinic with complaints of polydipsia, polyuria and weight loss and was diagnosed as diabetic ketoacidosis due to autoimmune type 1 DM. Insulin therapy was started. Elevated thyroid antibodies associated with diffuse goiter and hypothyroidism led to the diagnosis of autoimmune thyroid disease (ATD), and elevated antiendomysial antibodies and abnormal intestinal biopsy findings led to the diagnosis of celiac disease (CD). L-thyroxine therapy and gluten-free diet were initiated accordingly. At the third-year of follow-up, acute attacks of fever, abdominal pain and chest pain developed. Laboratory investigations, which were normal between the attacks, revealed elevated erythrocyte sedimentation rate, fibrinogen, white blood cell count and pleural effusion on chest X-ray during the attacks. Molecular analysis for FMF revealed compound heterozygous M694I and V726A. The patient responded well to colchicine therapy started at a dose of 1.5 mg/day. We present the second patient with type 1 DM associated with FMF who also had ATD and CD.

Hashimoto's encephalopathy in a ten-year-old girl.

Hashimoto's encephalopathy is a steroid-responsive, relapsing or progressive encephalopathy associated with thyroid autoantibodies. Age at presentation varies from 10 to 78 years. In children, Hashimoto's encephalopathy is rare, and seizures, confusion and hallucinations are the most commonly described features. We report a 10-year-old girl with the diagnosis of Hashimoto's encephalopathy and review the literature.

The exon 3-deleted/full-length growth hormone receptor polymorphism and response to growth hormone therapy in growth hormone deficiency and Turner syndrome: a multicenter study.

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 distribution of exon 3-deleted/full-length growth hormone receptor polymorphism in the Turkish population.

OBJECTIVE: The exon 3-deleted/full-length (d3/fl) growth hormone receptor (d3/fl-GHR) polymorphism has been associated with responsiveness to GH therapy in some children and also with adult height variation in the general population. We aimed to evaluate the distribution of d3/fl-GHR polymorphism in a Turkish population. METHODS: The study included 477 (54 females/423 males) healthy adults with a mean±SD age of 31.1±9.0 years (range: 18-57). Height and body mass index (BMI) were expressed as standard deviation score (SDS) according to national standards. All adults had normal height and BMI SDSs (between -2 and +2). GHR exon 3 isoforms were studied by simple multiplex polymerase chain reaction method. Insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) values were also measured and expressed as SDS. RESULTS: The distribution of the GHR exon 3 genotypes in the Turkish healthy adults was 35% (n=167) for fl/fl, 39% (n=186) for fl/d3, and 26% (n=124) for d3/d3. There was no difference between genders in GHR exon 3 genotypes. Frequencies of fl allele and d3 allele were 54.5% and 45.5%, respectively. There were no differences in height SDS and BMI SDS among the three d3/fl-GHR genotype groups. There was a significant difference in IGFBP-3 SDS between fl/fl and fl/d3 groups (p=0.022). CONCLUSIONS: This study presents the results of GHR polymorphism in a Turkish population as a reference for further studies. The distribution was similiar to European populations. There were no correlations between GHR isoforms and height SDS or other clinical/biochemical characteristics of the individuals except for higher IGFBP-3 levels in the fl/d3 group as compared to the fl/fl group. Whether this finding implies an abnormality, needs further investigation.