Browsing by Author "Hekimsoy, Z"

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    Serum creatine kinase levels in overt and subclinical hypothyroidism
    Hekimsoy, Z; Oktem, IK
    The aims of this prospective study were to determine serum levels of creatine kinase (CK) in overt and subclinical hypothyroidism; to investigate the change in CK levels with treatment; and to evaluate the relationship between free triiodsothyronine (FT3), free thyroxine (FT4), and thyrotropin (TSH) levels and the degree of skeletal muscle involvement, as determined by serum CK levels. Patients with hypothyroidism presenting to our endocrinology clinic were eligible for inclusion in this study. Patients with other causes of CK elevation were excluded. We included 28 patients ( 25 women and 3 men, ages 41.75 +/- 13.65 years) with overt hypothyroidism, 38 patients ( 37 women, 1 man, ages 40.55 +/- 10.48 years) with subclinical hypothyroidism, and 30 age- and gender-matched controls ( 27 women, 3 men, ages 40.81 +/- 11.20 years) in the study. Serum levels of TSH, FT4, FT3, and CK were measured in all subjects. CK elevation was found in 16 patients (57%) with overt hypothyroidism and in 4 patients (10%) with subclinical hypothyroidism. Although a statistically significant elevation of CK levels was found in patients with overt hypothyroidism when compared with patients with subclinical hypothyroidism and controls ( p = 0.0001, p = 0.01, respectively), no difference was found between the subclinical hypothyroidism and control groups ( p = 0.14). In hypothyroid ( overt and subclinical) patients, a positive correlation was found between CK and TSH (r = 0.432; p = 0.04), and a negative correlation between CK and FT3 ( r = -0.556; p = 0.002) and between CK and FT4 ( r = -0.448; p = 0.04). CK levels decreased to normal levels after thyroid function normalized with treatment. In conclusion, skeletal muscle is affected by hypothyroidism more profoundly in cases of overt hypothyroidism, less so when subclinical hypothyroidism is present.
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    Clinicopathological Reflections of Hashimoto's Thyroiditis and Papillary Thyroid Carcinoma Coexistence
    Akcura, C; Alkan, S; Güney, SC; Çavdar, GG; Senol, E; Tan, AY; Özdemir, N; Aydede, H; Hekimsoy, Z
    Objective: Papillary thyroid carcinoma (PTC) is the most common subtype of thyroid cancer. Hashimoto's thyroiditis (HT), a chronic inflammation of the thyroid gland, is one of the most common autoimmune diseases worldwide. In this study, we aimed to determine the relationship between PTC and HT and the clinicopathological effects of the combination of HT and PTC on the course of PTC. Methods: In this cross-sectional retrospective study, PTC cases who underwent surgery and were followed up at our institution's endocrinology outpatient clinic between 2014 and 2022 were divided into two groups according to the presence of HT. Demographic data of both groups, pathological features of the tumor, and preoperative laboratory findings were examined. Results: A total of 42.4% (n=118) of 278 cases were accompanied by HT. The mean age of the patients was 46.44 +/- 12.2 years. The majority of patients were female (80.6%, n=224). Multifocality was significantly less common in the HT group (p=0.037). Conclusion: Although multifocality was significantly less common in the HT group, no other statistically significant parameter was discovered in other clinicopathological findings. In light of these findings, the effect of HT on the course of PTC cannot be clearly determined. Considering the conflicting results regarding the effect of HT-PTC coexistence on the course of PTC in the literature, a comprehensive prospective study on this subject is necessary.
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    Are Inflammation Markers Derived from Hemogram Parameters Predictive for Papillary Thyroid Carcinoma in Hashimoto's Thyroiditis Patients?
    Akcura, C; Guney, SC; Alkan, S; Cavdar, GG; Tan, AY; Aydede, H; Hekimsoy, Z; Ozdemir, N
    Hashimoto's thyroiditis (HT) and papillary thyroid carcinoma (PTC) are two endocrine disorders, and chronic inflammation plays a key role in their pathogeneses. Recent studies have shown that some inflammation markers derived from hemogram parameters such as neutrophil/lymphocyte ratio (NLR), platelet/lymphocyte ratio (PLR), and systemic immune-inflammation index (SII) are helpful in showing inflammation in many autoimmune diseases and cancers. We aimed to investigate how the coexistence of HT and PTC will affect the inflammation markers derived from hemogram parameters. Eighty PTC patients with coexisting HT (Group 1) and PTC and 80 HT patients without PTC (Group 2) were selected. Hemogram parameters, thyroid function tests, and thyroid autoantibodies of the patients were analyzed. Relevant inflammatory markers were calculated, and the results were statistically analyzed. NLR, PLR, and SII values were found to be significantly higher in Group 1 (p = 0.032, p = 0.005, and p = 0.002, respectively) compared to Group 2. ROC curve analysis revealed the most appropriate cut-off point for NLR to be 495.34, for PLR to be 1.77, and for SII to be 115.99. NLR, PLR, and SII levels have been shown to be sensitive in predicting the development of PTC in HT patients.
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    CATAMENIAL DIABETIC KETOACIDOSIS
    Hekimsoy, Z; Eniseler, EB; Erdem, N; Ozdemir, N
    Diabetic ketoacidosis (DKA) is a common medical emergency situation. In rare cases, glycemic changes associated with the menstrual cycle may create a predisposing factor for DKA. In the absence of facilitating factors that may cause DKA, catamenial DKA should be considered. In the patients with catamenial DKA, increasing the insulin dose 1-2 days before menstruation may prevent the development of hyperglycemia or DKA associated with menstrual cycle. In this study, we present a 21-year-old female with type 1 diabetes mellitus (DM) that recurrently applied to our hospital due to DKA a few days prior to menstrual bleeding.
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    Effects of a statin group drug, pravastatin, on the insulin resistance in patients with metabolic syndrome
    Güçlü, F; Özmen, B; Hekimsoy, Z; Kirmaz, C
    Background. - In West of Scotland Coronary Prevention Study (WOSCOPS), development of type 2 diabetes mellitus (DM) was found to decrease by 30% in pravastatin-treated patients. In the study, it is suggested that pleiotropic effects of pravastatin may be responsible too as well as its lipid lowering effect. Objective. - The aim of this study was to assess the effects of pravastatin treatment on the insulin resistance in patients with metabolic syndrome with impaired glucose tolerance (IGT), by Homeostasis Model Assessment (HOMA) test, insulin sensitivity indices and glucose half activation time (glucose t1/2). Methods. - Study population consisted of 25 women who were diagnosed with metabolic syndrome. At baseline and 10 weeks after the 20 mg/daily tablet pravastatin treatment, waist/hip circumference, body weight and arterial blood pressure measurements, plasma glucose, total cholesterol, triglyceride, high density lipoprotein (HDL)-cholesterol, transaminases, glycosylated haemoglobin (A1C) and insulin level measurements were obtained along with HOMA test and insulin tolerance test after 12 h of fasting. Insulin sensitivity indices and glucose t1/2 were assessed. Results. - After the treatment, a statistically significant decrease was observed in arterial blood pressure values (P < 0.0001). While plasma total cholesterol, low density lipoprotein (LDL)-cholesterol, and triglyceride levels were found to decrease significantly and HDL-cholesterol levels increased significantly, a decrease in baseline insulin levels, an increase in insulin sensitivity levels were observed along with an decrease in glucose t1/2. Related to the improvement in aforementioned parameters, statistically significant decreases were noted in HOMA, postprandial and fasting glucose levels and A1C values (P < 0.0001). Conclusion. - Our study suggests that using pravastatin in the dyslipidemia treatment of metabolic syndrome with IGT may be an effective approach by its advantageous effects on insulin resistance. Based on this result, it is possible to say that this can be a risk lowering treatment approach for the development of type 2 DM. (C) 2004 Elsevier SAS. All rights reserved.
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    The prevalence of hyperprolactinaemia in overt and subclinical hypothyroidism
    Hekimsoy, Z; Kafesçiler, S; Güçlü, F; Özmen, B
    The aims of this study were to: 1) determine the prevalence of hyperprolactinaemia in patients with newly diagnosed subclinical and overt hypothyroidism, and 2) investigate the change in PRL levels with treatment. In this observational study, patients with a new diagnosis of hypothyroidism in our endocrinology clinic were approached for participation, as were healthy controls. Patients with medical reasons for having elevated PRL levels, lactating and pregnant women were excluded from the study. No patient had kidney or liver disease. After examination to determine if clinical causes of PRL elevation were present, serum levels of thyrotropin (TSH), free thyroxine, free triiodothyronine and PRL were measured and correlation of PRL levels with the severity of hypothyroidism (overt or subclinical) was performed. Fifty-three patients (45 women, 8 men, mean age 45.3 +/- 12.2 years) had overt hypothyroidism. One hundred forty-seven patients (131 women, 16 men, mean age 42.9 +/- 12.6 years) had subclinical hypothyroidism. One hundred healthy persons (85 women, 15 men, mean age 43.9 +/- 11.4 years) participated as controls. The same blood tests were repeated in patients after normalization of TSH levels with L-thyroxine treatment. PRL elevation was found in 36% of patients with overt hypothyroidism, and in 22% of patients with subclinical hypothyroidism. PRL levels decreased to normal in all patients after thyroid functions normalized with L-thyroxine treatment. In the hypothyroid patients (overt and subclinical) a positive correlation was found between TSH and PRL levels (r=0.208, p=0.003). PRL regulation is altered in overt and subclinical hypothyroidism, and PRL levels normalize with appropriate L-thyroxine treatment.
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    Osteocytes-The Known and Unknown
    Hekimsoy, Z
    Osteocytes are the most numerous, longest-living, and least studied cells of bone. In this review, osteocyte functions are discussed.
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    CONGENITAL ADRENAL HYPERPLASIA WITH COMPOUND HETEROZYGOUS I2 SPLICE AND P453S MUTATIONS
    Almacan, B; Ozdemir, N; Onay, H; Hekimsoy, Z
    Background. Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder caused by congenital deficiency of enzymes involved in cortisol biosynthesis from cholesterol in the adrenal cortex. In this article, we aimed to present a 29-year-old female patient with I2 splice point mutation detected in one allele and P453S mutation on the other allele of CYP21A2 gene associated with 21-hydroxylase deficiency. Her further investigation revealed that her mother had P453S mutation and her father had I2 splice mutation. Case report. A 29-year-old woman with CAH was admitted to our clinic with the request of pregnancy. Her physical examination revealed a height of 151 cm, weight 59 kg, body mass index 25.8 kg/m2. According to Tanner staging, she had Stage 3 breast development and pubic hair. Her laboratory test results were as follows: Glucose: 79 mg/dL (70-100 mg/dL), Creatinine: 0.6 (0.5-0.95 mg/ dL), Sodium: 138 mEq/L (135-145 mEq/L), Potassium: 4.4 mEq/L (3.5-5.1 mEq/L), Cortisol: 0.05 mu g/dL, ACTH: <5.00 pg/mL (5-46 pg/mL), 17-OH progesterone: 7.67 ng/mL (0-3 ng/mL). Chromosome analysis revealed a 46, XX karyotype. CYP21A2 gene mutation analysis was performed for the patient whose clinical history and laboratory results were compatible with congenital adrenal hyperplasia. During the reverse dot blot analysis, I2 splice mutation in one allele and P453S mutation in the other allele were detected. Conclusion. Although the I2 splice mutation detected in our case was mostly associated with a saltwasting form of CAH, it was thought that the other P453S mutation detected may explain the relatively good clinical course in our case.
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    Serum osteocalcin levels in hyperthyroidism before and after antithyroid therapy
    Barsal, G; Taneli, F; Atay, A; Hekimsoy, Z; Erciyas, F
    Hyperthyroidism is characterized by accelerated bone turnover, caused from direct stimulation of bone cells by increased thyroid hormones. In this study, we aimed to investigate serum osteocalcin levels as a bone formation marker, before antithyroid (propylthiouracil) therapy at hyperthyroid stage and after antithyroid therapy at euthyroid stage of the patients. Twenty four hyperthyroid patients (18 females, 6 males) and 20 (13 females, 7 males) healthy controls were included into this study. Blood and urine samples were taken before medical treatment at hyperthyroid state, and after the antithyroid therapy until the patients reached the euthyroid state. Serum alkaline phosphatase, osteocalcin, calcium, phosphorus, Free T3, Free T4, TSH and urine calcium/creatinine levels were assessed. We found a significant decrease in serum osteocalcin (p=0.006), urinary calcium/creatinine (p=0.004), and serum phosphorus (p=0.038) levels in euthyroid state in comparison to hyperthyroid state. The increases in serum bone formation marker osteocalcin and bone resorption marker urinary calcium/creatinine levels in hyperthyroid state compared to euthyroid state in our study confirmed that hyperthyroid patients have high bone turnover. We conclude that, hyperthyroid patients has high bone turnover of formation and resorption even after attainment of euthyroidism. Osteocalcin and urine calcium/creatinine are sensitive markers in documenting bone remodeling during treatment of hyperthyroidism. (C) 2004 Tohoku University Medical Press.
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    Down-regulation of the auto-aggressive processes in patients with hypothyroid Hashimoto's thyroiditis following substitutive treatment with L-thyroxine
    Guclu, F; Ozmen, B; Kirmaz, C; Kafesciler, SO; Degirmenci, PB; Taneli, F; Hekimsoy, Z
    Background. Hashimoto's thyroiditis is a chronic, organ-specific autoimmune disease. It is the most common cause of primary hypothyroidism during the adolescent period, via autoimmune thyroid tissue destruction, affecting 2% of the population. The pathogenesis of Hashimoto's thyroiditis involves a complex interaction between predisposing genetic and environmental factors. Objective. In this study, we wanted to investigate the role of cytokines such as IL-2, IL-4, IL-12 and IFN-gamma in the pathogenesis of the disease, and the changes to cytokine levels brought about by treatment with L-thyroxine. Methods. Sixty five female patients, aged 18-73 years with Hashimoto's thyroiditis, referred to the Celal Bayar University Medical Faculty Endocrinology out-patients clinic, were included in this study. After a 10-12 week period of L-thyroxine treatment, all patients were restored to the euthyroid state. At the beginning and end of the treatment period, serum-free triiodothyronine (FT3), free thyroxine (FT4), thyroid-stimulating hormone (TSH), autoantibodies against thyroid peroxidase (anti-TPO), autoantibodies against thyroglobulin (anti-Tg) levels were measured using a chemiluminecent, immunometric method, and cytokine levels were measured using ELISA. Results. There was a statistically significant decrease in the serum levels of TSH (p < 0.0001) and a concomitant increase in FT4 serum levels (p < 0.0001). Also, during the post-treatment period, serum levels of anti-Tg (p < 0.01) and anti-TPO (p < 0.001) were significantly lower than during the pre-treatment period. A statistically significant decrease was shown for interleukin (IL)-12 serum levels during the post-treatment period (p < 0.001). However, the decrease in interferon (IFN)-gamma serum levels was not statistically significant (p = 0.276). On the other hand, no change was demonstrated in serum IL-2 and IL-4 levels (p = 0.953 and p = 0.313, respectively) after treatment with L-thyroxine. Conclusion. Considering that our study involved a 10-12 week period of treatment, the statistically significant decrease in serum IL-12 levels, and the statistically non-significant decrease in IFN-gamma levels, might indicate that a T helper type 1 inflammatory process had been halted or slowed down.
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    Vitamin D Levels in Overweight/Obese Adults With and Without Metabolic Syndrome
    Karatas, S; Hekimsoy, Z; Dinc, G; Onur, E; Ozmen, B
    Background: Vitamin D role is not only associated with mineral metabolism and bone health but also in globally important diseases such as obesity and metabolic syndrome. The aims of this observational study were to investigate: 1) 25(OH) vitamin D levels in overweight/obese persons with and without metabolic syndrome and compare these with levels in healthy subjects, 2) the relationship between serum 25(OH) vitamin D levels and metabolic syndrome components such as body mass index, waist circumference, blood pressure, fasting blood glucose, lipid parameters and insulin resistance: Homeostasis Model Assesment of Insulin Resistance (HOMA-IR). Methods: Participants (n = 287) were 94 overweight/obese adults with metabolic syndrome, 120 overweight/obese adults without metabolic syndrome, and 73 non-obese healthy subjects (controls). Overweight/obese subjects were classified as metabolic syndrome (MetS) positive according to the recent International Diabetes Federation criteria. HOMA-IR was calculated as serum glucose (mg/dL) x insulin level (mu U/mL)/405. Vitamin D nutritional status was assessed as deficient if 25(OH) vitamin D levels were < 20 ng/mL, insufficient if = 20 - < 30 ng/mL, and sufficient if = 30 ng/mL. Results: Serum 25(OH) vitamin D deficiency, defined as a level < 20 ng/mL, was more common in overweight/obese adults with (72%) and without (69%) metabolic syndrome than in controls (49%) (P = 0.006). Serum 25(OH) vitamin D levels were significantly lower in overweight/obese metabolic syndrome adults (16.8 +/- 7.3 ng/mL) and overweight/obese non-metabolic syndrome adults (18.3 +/- 8.6 ng/mL) than healthy subjects (21.2 +/- 8.9 ng/mL, P = 0.001). A negative relationship was found between serum 25(OH) vitamin D levels and body mass index (r = -0.159, P = 0.007) and serum triglyceride levels (r = -0.149, P = 0.012). Serum 25(OH) vitamin D levels correlated inversely (not statistically significant) to waist circumference, fasting blood glucose, HOMA-IR, and blood pressure, but positively (not statistically significant) to HDL cholesterol levels. Conclusions: Vitamin D deficiency is very common in overweight/obese adults, more so than in healthy controls. Vitamin D deficiency is not more common in those with metabolic syndrome than in those without. Reduced 25(OH) vitamin D levels are associated with an increased risk of overweight/obesity and metabolic syndrome.
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    Influence of the selective oestrogen receptor modulator (raloxifene hydrochloride) on IL-6, TNF-α, TGF-β1 and bone turnover markers in the treatment of postmenopausal osteoporosis
    Özmen, B; Kirmaz, C; Aydin, K; Kafesciler, SO; Guclu, F; Hekimsoy, Z
    Background. Osteoporosis that is encountered frequently in postmenopausal women, may cause an increased incidence of vertebral and iliac fractures that are associated with excess morbidity. Raloxifene hydrochloride, a selective oestrogen receptor modulator, has been shown to increase bone mineral density and decrease biochemical markers of bone turnover in postmenopausal women, without stimulatory effects on breast or uterus. Levels of proinflammatory cytokines, including IL-6, and TNF-alpha and TGF-beta 1 which are important cytokines involved in remodeling, have been evaluated previously in in vitro studies of osteoporosis. However, there seems to be a paucity of in vivo research concerned with changes in these cytokines in osteoporosis. Objective. In this study, we evaluated the effects of raloxifene (Evista (R); Lilly Pharmaceutical Co. USA, 60 mg/day) on biochemical bone turnover markers, serum parathyroid hormone, and 25-OH vitamin D, as well as the serum levels of IL-6, TNF-alpha and TGF-beta 1, in 22 postmenopausal, osteoporotic women before and after 12 weeks of raloxifene treatment. Methods. Well-matched, postmenopausal, non-osteoporotic control subjects were also enrolled in the study. Serum levels of all the parameters were measured in postmenopausal, osteoporotic women at baseline and end of the study. Results. It was found that serum osteocalcin and parathyroid hormone, and urine deoxypyridinoline levels decreased to normal levels with treatment. Serum 25-OH vitamin D levels after treatment in the patient group were higher than those in the control group. Serum IL-6, TNF-alpha and TGF-beta 1 levels did not change significantly with treatment. However, serum levels of IL-6 and TGF-beta 1 in the patient group after treatment, decreased to levels lower than those found in the control group. Serum TNF-alpha levels in the patient group before and after treatment, were lower than those in the control group. Conclusion. Raloxifene treatment reduces bone turnover biochemical markers, parathyroid hormone and induces 25-OH vitamin D in postmenopausal women. Moreover, it also affects some serum cytokine levels in the postmenopausal period.
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    Macular edema in unregulated type 2 diabetic patients following glycemic control
    Kayykcyoolu, Ö; Özmen, B; Seymenoglu, G; Tunali, D; Kafesçiler, SO; Güclü, F; Hekimsoy, Z
    Background. We undertook this study to evaluate the changes in macular edema of uncontrolled type 2 diabetes mellitus patients with the regulation of hyperglycemia. Methods. The study population was comprised of 35 type 2 diabetes mellitus patients who had poorly regulated blood glucose values. Ophthalmic examinations including baseline and 6-month macular edema index values of patients by Heidelberg Retinal Tomography (HRT) macular module were done. Results. Twenty four (68.6%) female patients and 11 (31.4%) male patients with a mean age of 50.7 +/- 10.3 (mean +/- SD) years and mean diabetic duration of 9.8 +/- 7.5 years participated in the study. Twenty two (62.9%) did not have diabetic retinopathy (DR), whereas 13 (37.2%) had background DR with macular edema. There was a significant correlation between duration of diabetes and HRT-II macula edema index for the right and left eyes (r = 0.40, p = 0.21 and r = 0.40, p = 0.22, respectively). Conclusions. Macular edema did not change significantly by regulation of glycemic control in the study group. (C) 2007 IMSS. Published by Elsevier Inc.
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    THYROID HORMONE RESISTANCE: A CASE REPORT
    Almacan, B; Ozdemir, N; Gürkan, H; Gul, S; Guldikere, S; Hekimsoy, Z
    Background. Thyroid hormone resistance (RTH) is defined as a decrease in response to thyroid hormones in the target tissue. Most patients present with nonspecific findings. In this article, we aimed to represent a 22-yearold female patient who presented with palpitation, fatigue, and heat intolerance. She was thought to have thyroid hormone resistance and her genetic examination revealed NM_001128177.1 (THR beta): c.1034G > A (p.Gly345Asp) pathogenic variation in the THR beta gene. Case report. A 22-year-old female patient presented with complaints of fatigue, heat intolerance and palpitations. She was taking Propranolol twice daily at admission. Her family history revealed hypothyroidism in her grandmother. Her physical examination results were as follows: height 160 cm, weight 65 kg, body mass index 25.4 kg/m(2), body temperature 36.5 degrees C, respiratory rate 18/min, heart rate 86 beats/min, blood pressure 120/80 mmHg. Her palms were sweaty. The heart sounds were normal, and no heart murmur was auscultated. The laboratory results were TSH: 5.31uU / mL, fT3: 6.83 pg / mL, and fT4: 2.43 ng / dL. THR beta gene mutation analysis was requested for our patient whose clinical history and laboratory results were compatible with thyroid hormone resistance. The pathogenic variation NM_001128177.1(THR beta):c.1034G>A (p.Gly345Asp) was detected after analysis. Conclusion. A diagnosis of RTH requires high clinical suspicion and a genetic mutation analysis should be requested in the case of clinical suspicion. In this way, unnecessary anti-thyroid treatment can be prevented.
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    Evaluation of markers of inflammation, insulin resistance and endothelial dysfunction in children at risk for overweight
    Akinci, G; Akinci, B; Coskun, S; Bayindir, P; Hekimsoy, Z; Özmen, B
    OBJECTIVE: Childhood obesity is associated with impaired endothelial function, insulin resistance and inflammation. Being at risk for overweight has been defined as having a body mass index (BMI) between the 85(th) and 94(th) percentile for age and sex. In this study, we looked for features linked to cardiovascular, risk in children who are at risk for overweight. DESIGN: Twenty-one children who were at risk for overweight (study group) and 20 children with a BMI between the 25(th)-74(th) percentiles (controls) were studied. Fasting blood levels of glucose, insulin, total cholesterol, HDL cholesterol, triglycerides, uric acid, fibrinogen and high sensitive C-reactive protein (CRP) were assessed in both groups. LDL-cholesterol, HOMA-IR and QUICKI indices were calculated. Flow-Mediated Vasodilatation (FMD) was determined for the evaluation of endothelial function. RESULTS: Increased HOMA-IR was observed in children who were at risk for overweight. Waist circumference was the main predictor of insulin resistance in these children. Higher levels of CRP were found in the study group compared to controls, while plasma fibrinogen died not differ in the two groups. The children who were at risk for overweight had lower FMD values and slightly elevated lipids compared to controls; however, these differences were not statistically significant. CONCLUSION: Insulin resistance and inflammation indices were higher in children who were at risk for overweight as has been shown for obese children. The data suggest that appropriate treatment strategies for weight control are essential not only for obese children but also for those at risk for overweight.
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    A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA)mutation in exon 1 (D47N)
    Kutbay, NO; Yurekli, BS; Onay, H; Altay, CT; Atik, T; Hekimsoy, Z; Saygili, F; Akinci, B
    Background: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat which is associated with insulin resistant diabetes. The Dunnigan variety (FPL2) is caused by several missense mutations in the lamin A/C (LMNA) gene, most of which are typically located in exon 8 at the codon position 482. Case report: Here, we report on a Turkish family with FPL2 which is caused by a novel heterozygous missense LMNA mutation in exon 1 (D47N, c. 139G N A), in the rod domain of lamins A/C. Fat distribution and metabolic features of LMNA D47N mutation were similar to typical codon 482 mutation. Metabolic abnormalities were observed as a form of insulin resistant diabetes, hypertriglyceridemia, low HDL cholesterol and hepatic steatosis. There was no evidence for neuromuscular and cardiac involvement. Conclusion: Although it is previously known that alterations in the rod domain of type A lamins are involved in cardiac and neuromuscular diseases, our current observation shows that exon 1 LMNA mutationsmay be associated with partial lipodystrophy without any cardiac and neurological abnormalities, at least at the time of the presentation. (C) 2015 European Federation of Internal Medicine. Published by Elsevier B. V. All rights reserved.
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    Plasma selenium and urinary iodine in patients with goiter
    Hekimsoy, Z; Biberoglu, S; Kirkali, G; Bicer, N; Erbayraktar, Z
    Objective: Iodine deficiency and related disorders are still major public health problems, with a high prevalence of endemic goiter in many regions of Turkey. In addition to measuring iodine excretion rates in patients with diffuse or nodular goiter, we examined plasma selenium concentrations, to see whether selenium deficiency might be related to goiterogenesis in our region. Methods: Seventy-two outpatients with goiter (67 female, 5 male; age 43.7 +/- 13.0 years) presenting consecutively to our university medical center endocrinology clinic, were included in the study group. The control group consisted of 30 subjects (25 female, 5 male; age 40.6 +/- 13.6 years) who were healthy and did not have any known thyroid disease. None of the subjects were using medications containing selenium or iodine. Serum thyroid hormones, plasma selenium and urinary iodine levels were measured, and an ultrasound of the thyroid was performed in both groups. Results: Serum thyroid hormone levels were in the normal range in both groups and the difference was not significant. Mean plasma selenium levels in the study and control groups were not significantly different (p = 0.30). However, urinary iodine excretion was significantly lower in the study group (17.4 +/- 12.6 mug/l vs 23.2 +/- 12.2 mug/l, p = 0.03). In both study and control group patients, a significant negative correlation between thyroid volume and urinary iodine levels was observed. Conclusion: Moderate to severe iodine deficiency is the primary etiologic factor for endemic goiter in our region. Plasma selenium levels were not related to the presence or absence of goiter in our population.
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    Vitamin D status among adults in the Aegean region of Turkey
    Hekimsoy, Z; Dinç, G; Kafesçiler, S; Onur, E; Güvenç, Y; Pala, T; Güçlü, F; Özmen, B
    Background: Vitamin D is a lipid-soluble hormone found in certain foods and synthesized from precursors in the skin when exposed to ultraviolet light. Vitamin D plays a critical role in bone metabolism and many cellular and immunological processes and low levels have been associated with several chronic and infectious diseases. Vitamin D status is assessed by measuring the concentration of serum 25-hydroxyvitamin D [25(OH)D]. Vitamin D deficiency is reported to be common worldwide, but little has been reported about the vitamin D status of adults in Turkey. In this cross-sectional study, we determined the prevalence of 25(OH)D deficiency in adults residing in a city in the Aegean region of Turkey. Methods: A survey was conducted on a representative sample of adults over 20 years old in a non-coastal city at the end of the winter season. Of the 209 households selected by random sampling, 8.6% (n = 18) were unoccupied and 21.5% (n = 45) refused to participate. Blood samples were taken and questions about medical history, vitamin supplementation, sunlight exposure, and dietary calcium and vitamin D intake were asked in face-to-face interviews of 391 adults living in the remaining households. Results: The mean serum 25(OH)D concentration was 16.9 +/- 13.09 ng/mL, with 74.9% of the subjects having 25(OH)D deficiency (<20 ng/mL), 13.8% having insufficiency (20-29.99 ng/mL), and 11.3% of the subjects having sufficient 25(OH)D (>= 30 ng/mL) levels. 25(OH)D deficiency was more common among females (78.7%) than males (66.4%, p < 0.05). Conclusion: Adults living in an urban, non-coastal setting in Turkey have a high prevalence of vitamin D deficiency.
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    Duration of obesity is not a risk factor for type 2 diabetes mellitus, arterial hypertension and hyperlipidemia
    Hekimsoy, Z; Oktem, IK
    Background: Obesity is known to be a risk factor for type 2 diabetes mellitus (DM), arterial hypertension (HT) and hyperlipidaemia (HL), but the relationship between the duration of obesity and these outcomes is variable in the literature. Aims: The aims of this study were 1) to evaluate whether the duration of obesity is a risk factor for type 2 DM, HT and HL, 2) to determine the incidence of impaired fasting glucose (IFG), impaired glucose tolerance (IGT), type 2 DM, HT and HL in the patients attending our clinic because of obesity and 3) to determine the correlation between DM, HT and HL and age, body mass index (BMI), duration of obesity and waist-hip ratio (WHR). Methods: Informed consent was obtained from 200 consecutive women presenting to our Endocrinology and Metabolism Unit for the first time because of obesity. The patient's history of the age at onset of obesity, HT and family history of DM were obtained. Anthropometric measurements and a 75-g oral glucose tolerance test (OGTT) were performed. Results: On OGTT, 15 (7.5%) had IFG, 36 (18%) had IGT and 18 (9%) had type 2 DM; in addition, 96 (48%) had HT and 76 (38%) had HL. Upon multivariate logistic regression analysis, age was a common risk factor for IGT, type 2 DM, HT and HL, and a family history of diabetes was an additional risk factor for type 2 DM. Conclusion: The duration of obesity, as reported by women presenting for treatment of obesity, is not a risk factor for type 2 DM, HT and HL.
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    The Relationship Between Glycosylated Haemoglobin and Diabetic Retinopathy in Patients with Type 2 Diabetes
    Özmen, B; Güçlü, F; Kafesçiler, S; Özmen, D; Hekimsoy, Z
    Diabetes mellitus (DM) is a major health problem with long-term micro and macrovascular complications. Diabetic retinopathy (DR) is a sight-threating chronic complication of diabetes mellitus in adults. In this study, we determined the frequency of DR and the relationship between HbA1c levels, duration of diabetes and BMI with DR in type 2 diabetic patients. Six-hundred eighteen type 2 diabetic patients participated in this study. In the first examination, retinopathy was evaluated by ophthalmoscopy through dilated pupil by experienced ophthalmologist. Based on their optic fundi findings they were classified into three groups; without retinopathy, had non-proliferative DR (NPDR) and had proliferative diabetic retinopathy (PDR). In addition, the patients were classified in four groups according to their HbA1c levels; below 6.0 %, between 6.1 and 6.9%; between 7.0 and 9.9%, and; above 10.0%. According to the duration of diabetes the patients were divided into three groups. First group consisted of patients who were diabetic for less than five years, the second group consists of patients who had diabetes for a period 6-10 years and the third group, who were diabetic for more than 10 years. All patients were divided into four groups according BMI; lower 25 kg/m(2), between 25.1 and 29.9 kg/m(2), between 30 and 39.9 kg/m(2) and over 40 kg/m(2). In our study, the frequency of DR was 46.6% [28.8% have NPDR and 17.8% have PDR]. There was a stastically significant relationship between HbA1c levels and DR (both NPDR and PDR) (p<0.000). The frequency of retinopathy (both background and proliferative) was 4.8% in the group of diabetics with a mean HbA1c level <6%, 8.7 % in those between 6.1 and 6.9%, 62.8% in those between 7 and 9.9% and 82.2% in those exceeding a mean HbA1c level of 10%. According to our results, there was a significant relationship between duration of diabetes and DR (both nonproliferative and proliferative) (p<0.001). A similar relationship between PDR and BMI (p<.001), between NPDR and BMI (p<.01) was found. But there was no relationship between gender and DR (p=0.51). These results imply that duration of diabetes, HbA1c level and BMI are important risk factors for onset or progression of DR in type 2 DM. Therefore decrease in HbA1c values and BMI prevent or delay the onset/or progression of DR.