Landscape of congenital adrenal hyperplasia cases in adult endocrinology clinics of Türkiye-a nation-wide multicentre study.

BACKGROUND AND AIMS: Congenital adrenal hyperplasia (CAH) is a group of disorders that affect the production of steroids in the adrenal gland and are inherited in an autosomal recessive pattern. The clinical and biochemical manifestations of the disorder are diverse, ranging from varying degrees of anomalies of the external genitalia to life-threatening adrenal insufficiency. This multicenter study aimed to determine the demographics, biochemical, clinical, and genetic characteristics besides the current status of adult patients with CAH nationwide. METHODS: The medical records of 223 patients with all forms of CAH were evaluated in the study, which included 19 adult endocrinology clinics. A form inquiring about demographical, etiological, and genetic (where available) data of all forms of CAH patients was filled out and returned by the centers. RESULTS: Among 223 cases 181 (81.16%) patients had 21-hydroxylase deficiency (21OHD), 27 (12.10%) had 11-beta-hydroxylase deficiency (110HD), 13 (5.82%) had 17-hydroxylase deficiency (17OHD) and 2 (0.89%) had 3-beta-hydroxysteroid-dehydrogenase deficiency. 21OHD was the most prevalent CAH form in our national series. There were 102 (56.4%) classical and 79 (43.6%) non-classical 210HD cases in our cohort. The age of the patients was 24.9 ± 6.1 (minimum-maximum: 17-44) for classical CAH patients and 30.2 ± 11.2 (minimum-maximum: 17-67). More patients in the nonclassical CAH group were married and had children. Reconstructive genital surgery was performed in 54 (78.3%) of classical CAH females and 42 (77.8%) of them had no children. Thirty-two (50.8%) NCAH cases had homogenous and 31 (49.2%) had heterogeneous CYP21A2 gene mutations. V281L pathological variation was the most prevalent mutation, it was detected in 35 (55.6%) of 21OHD NCAH patients. CONCLUSION: Our findings are compatible with the current literature except for the higher frequency of 110HD and 17OHD, which may be attributed to unidentified genetic causes. A new classification for CAH cases rather than classical and non-classical may be helpful as the disease exhibits a large clinical and biochemical continuum. Affected cases should be informed of the possible complications they may face. The study concludes that a better understanding of the clinical characteristics of patients with CAH can improve the management of the disorder in daily practice.

The effect of COVID-19 process on patients with endocrinological disease in a pandemic hospital: What happened to the others?

ABSTRACT Objective: To evaluate the effects of the pandemic process on those with an endocrinological disease that will require close follow-up from the last visit before the pandemic. Materials and methods: Patients of 3,903 with thyroid, calcium-bone metabolism, adrenal gland, pituitary diseases, and neuroendocrine tumor (NET) were retrospectively scanned. The remaining 855 (656 females and 199 males) patients with active disease or who still needed multidisciplinary approaches were included. The number of patients who continued the disease-related medical procedures and could complete these procedures on time in the pandemic period was determined, and medical deprivation rate (MDR) was calculated. Results: The prepandemic period of our patients with thyroid disease (n = 594), calcium-bone metabolism disorder (n = 130), adrenal disease (n = 85), pituitary disease, and NET (n = 46) had MDRs of 85%, 56%, 81%, and 89%, respectively. For each subgroup of patients, the lowest MDR (67%) was in medullary thyroid carcinoma, the highest MDR (89%) was in differentiated thyroid carcinoma; the lowest MDR (6%) was in osteoporosis, the highest MDR (100%) was in the active Paget's disease; the lowest MDR (0%) was in primary adrenocortical insufficiency, the highest MDR (100%) was in hyperfunctional adrenal adenomas; the lowest MDR (81%) was in pituitary nonfunctional adenomas, and the highest MDR (100%) was in Cushing's disease, active prolactinoma, TSHoma, and NET, respectively. Conclusion: This study showed that not only those who had COVID-19 but also those who had medical deprivation due to their current endocrinological disease were not to be underestimated during the pandemic period.

The effect of COVID-19 process on patients with endocrinological disease in a pandemic hospital: What happened to the others?

Objective: To evaluate the effects of the pandemic process on those with an endocrinological disease that will require close follow-up from the last visit before the pandemic. Materials and Methods: Patients of 3,903 with thyroid, calcium-bone metabolism, adrenal gland, pituitary diseases, and neuroendocrine tumor (NET) were retrospectively scanned. The remaining 855 (656 females and 199 males) patients with active disease or who still needed multidisciplinary approaches were included. The number of patients who continued the disease-related medical procedures and could complete these procedures on time in the pandemic period was determined, and medical deprivation rate (MDR) was calculated. Results: The prepandemic period of our patients with thyroid disease (n = 594), calcium-bone metabolism disorder (n = 130), adrenal disease (n = 85), pituitary disease, and NET (n = 46) had MDRs of 85%, 56%, 81%, and 89%, respectively. For each subgroup of patients, the lowest MDR (67%) was in medullary thyroid carcinoma, the highest MDR (89%) was in differentiated thyroid carcinoma; the lowest MDR (6%) was in osteoporosis, the highest MDR (100%) was in the active Paget's disease; the lowest MDR (0%) was in primary adrenocortical insufficiency, the highest MDR (100%) was in hyperfunctional adrenal adenomas; the lowest MDR (81%) was in pituitary nonfunctional adenomas, and the highest MDR (100%) was in Cushing's disease, active prolactinoma, TSHoma, and NET, respectively. Conclusion: This study showed that not only those who had COVID-19 but also those who had medical deprivation due to their current endocrinological disease were not to be underestimated during the pandemic period.

The significance of forearm bone mineral density evaluation in determining surgical indications in primary hyperparathyroidism.

PURPOSE: Forearm osteoporosis is a well-known complication of primary hyperparathyroidism (PHPT). However, measuring forearm bone mineral density (BMD) by dual-energy X-ray absorptiometry (DXA) at the distal radius is often neglected in clinical practice despite the fact that osteoporosis at any site is a criterion indicating surgery. We aimed to evaluate the importance and priority of forearm BMD and to determine its association with biochemical parameters. MATERIAL AND METHODS: Three hundred fourteen patients (272 females, 42 males) with PHPT who had BMD measurements at 3 sites were recruited for this retrospective study. The effect on surgical indications of osteoporosis only in the forearm was evaluated. Group 1 (n=151) with forearm osteoporosis and group 2 (n=163) without were compared in terms of biochemical and clinical parameters. RESULTS: In the overall study population, 165 of the 314 patients had osteoporosis in at least 1 site. Twenty seven percent (n=86/314) had osteoporosis only in the forearm, while the other 2 sites (lumbar spine and femoral neck) were normal or osteopenic. Surgery was indicated based on osteoporosis only in the forearm in 10% of patients (n=30/314). Corrected calcium and parathyroid hormone levels were significantly higher in group 1 than group 2 (p=0.001 and p<0.001, respectively) and were also negatively correlated with distal radius BMD, T-score and Z-score in the whole study group. CONCLUSION: Including the distal radius in BMD measurement increased the number of patients diagnosed with osteoporosis and for whom surgery was indicated. Calcium and PTH were also more frequently elevated in patients with forearm osteoporosis. These results show that distal radius BMD is relevant to the management of PHPT.

The factors associated with the persistence of hypogonadism in male patients with prolactinoma.

PURPOSE: It was aimed to compare the testosterone level during the treatment and the factors associated with the persistence of hypogonadism in prolactinoma. MATERIAL AND METHODS: Thirty-five patients with hypogonadism who were diagnosed with prolactinoma were recruited to this retrospective study. Age, hemoglobin, hematocrit, glucose, lipid parameters, prolactin, follicle-stimulating hormone, luteinizing hormone, total testosterone, and the adenoma size were compared at the baseline and 6th month of the treatment. The parameters were also compared between the patients with hypogonadism (n=8) and the patients without hypogonadism at the 6th month of the treatment (n=27). Correlation analysis was also performed in terms of parameters that may be associated with the testosterone levels at the 6th month of the treatment. RESULTS: The mean current age of the whole study group was 45.6±13.0 years, and the mean adenoma size was 23.9±11.4 mm. Thirty patients had macroadenoma, and five patients had microadenoma. Eight patients (23%) had low testosterone levels and hypogonadism symptoms at the 6th month of the prolactinoma treatment. The adenoma size was larger in patients with persistent hypogonadism than the patients without hypogonadism at the 6th month of the treatment, while the prolactin levels were similar between the groups, and macroadenoma was detected in all patients with persistent hypogonadism. A negative correlation was found between the testosterone levels at the 6th month of the prolactinoma treatment with the adenoma size. CONCLUSION: Adenoma size is the prominent factor than prolactin levels for predicting persistent hypogonadism in patients with male prolactinoma.

Evaluation of the effect of pediatric drugs and an oral rinse on primary teeth discoloration.

BACKGROUND: Changes in the color of the teeth are a common dental finding associated with clinical and esthetic problems. Especially, the discoloration of primary teeth can cause parental concern and have a negative effect on social interactions between preschool children. OBJECTIVES: The aim of the study was to evaluate the effect of pediatric drugs and an oral rinse on the discoloration of primary teeth. MATERIAL AND METHODS: Similar to medication intake recommendations, 7 primary teeth in each group were immersed for 1 min in one of 11 different solutions at 8-hour intervals for 1 week. The color values were obtained using a spectrophotometer (VITA EasyShade®) at baseline and after 1 week. The color change (ΔE*) values were calculated according to the CIELab system. The statistical analysis was conducted using the one-way analysis of variance (ANOVA) and Tukey's post hoc tests at a p-value <0.05. RESULTS: When comparing values L*, a* and b* at baseline and day 7, a statistically significant difference was found in the a* value for the teeth immersed in pseudoephedrine (p = 0.012). There were also statistically significant differences with regard to color change at day 7 (ΔE*7) between the pseudoephedrine and chlorhexidine as well as pseudoephedrine and control groups (p = 0.034 and p = 0.030, respectively). CONCLUSIONS: The ΔE*7 value for pseudoephedrine was 3.7 after 1 week, indicating that it may have the potential to cause significant tooth discoloration when used for a long period. Clinicians and children's families should be aware of the fact that some pediatric drugs can cause tooth discoloration.

Insulin-Like Growth Factor-I Might be a Predictor for Severe Non-Alcoholic Fatty Liver Disease in Morbidly Obese Patients.

The aim of the study was to compare the IGF-1 levels, metabolic and clinical parameters among the ultrasonographically classified non-alcoholic fatty liver disease (NAFLD) groups and determine the factors that may predict the NAFLD severity in patients with morbid obesity. This study was conducted on 316 morbidly obese patients (250 F/66 M). The data of patients before and 1st-year after bariatric surgery were recorded. According to the ultrasonographically NAFLD screening, patients with normal hepatic features were classified as Group 1(n=57), with mild and moderate NAFLD were classified as Group 2(n=219), and with severe NAFLD were classified as Group 3(n=40). IGF-1 standard deviation scores (SDSIGF1) were calculated according to age and gender. Parameters that could predict the presence and severity of NAFLD were evaluated. IGF-1 levels were significantly associated with Group 3 than Group 1(p=0.037), and the significance remained between the same groups when IGF-1 levels were standardized as SDSIGF1(p=0.036). Decreased levels of SDSIGF1 explained 5% of severe NAFLD than the normal group (p=0.036). Liver Diameter, FPG, ALT, AST, and GGT were also found as significant predictors for severe NAFLD. There were significant differences between pre-and postop values in all groups (p<0.001). This study showed that IGF-1 might be considered a sgnificant predictor of severe NAFLD in morbidly obese patients. It is crucial in clinical practice to determine predictive factors of NAFLD that could support the diagnosis accompanied by non-invasive imaging methods.

Anti-Mullerian Hormone Levels Increase After Bariatric Surgery in Obese Female Patients With and Without Polycystic Ovary Syndrome.

This study was aimed to investigate the effect of weight loss by bariatric surgery on the level of anti-Mullerian hormone (AMH) in morbidly obese female patients with or without polycystic ovary syndrome (PCOS). This prospective study includes 70 females, obese, and fertile patients of reproductive age. All patients were evaluated to determine the changes in weight, body mass index (BMI), serum AMH, and other biochemical parameters at the end of six months. The mean levels of the preop and postop AMH were 1.66±0.87 ng/ml and 5.99±1.39 ng/ml in the PCOS group; 1.35±0.76 ng/ml and 6.23±1.47 ng/ml in the non-PCOS group, respectively. The postop AMH levels were significantly higher than the preop levels for both groups (p<0.001). There were significant differences in the level of glucose, low-density lipoprotein (LDL), high-density lipoprotein (HDL), triglyceride, total cholesterol, hemoglobin A1c, HOMA-IR, insulin between preop and postop 6th month. A negative correlation was found between postop AMH and body weight in all patients (r=-0.337, p=0.031). Postop AMH levels were negatively correlated with postop BMI levels in the non-PCOS patient group (r=-0.408, p=0.043). No significant difference was observed between the PCOS and non-PCOS groups in terms of all the parameters examined. In conclusion, our study suggests that the significantly increased AMH levels by losing weight with bariatric surgery in patients with morbid obesity with and without PCOS may indicate the improvement of fertilization potential. It could be considered when evaluating fertility in patients with morbid obesity.

Determination of cerebral blood flow velocity and microembolic signals in essential thrombocytosis by transcranial doppler ultrasonography.

OBJECTIVES: The goal of treatment in essential thrombocytosis (ET) is to prevent vascular complications such as thrombosis and hemorrhage. This study aimed to evaluate the risk of cerebrovascular microembolism in ET patients due to detection of microembolic signals (MES) and measure cerebral blood flow velocity (CBFV) by Transcranial Doppler (TCD) ultrasonography. MATERIAL AND METHODS: In this prospective case-control study, forty patients with diagnosed ET and age and sex-matched forty healthy controls were examined by the TCD sonography. RESULTS: The ET group had a higher rate of MES (8/40) in the right MCA than that in the control group (none), as measured by TCD. Five patients had MES at the left MCA compared to that in no subjects in the control group. The comparison of the ET and control groups in terms of CBFV parameters showed significantly lower end-diastolic FV at the right MCA in the ET group compared to that in the control group (p < 0.05). On the other hand; both pulsatility and resistance indices in the right and left MCA and the ratios of systolic to diastolic blood flow rates in the right and left MCA were significantly higher in the ET group than that in the control group. DISCUSSION: This study revealed that MES seems to be more common in patients with ET despite treatment. We could suggest that ET patients should be monitored more closely to address the potential risk of developing a cerebrovascular disease, which can be estimated by detection MES and raised CBFV, combine antiplatelet therapies to standard treatments.

Evolution of Hematological Parameters During the First 2 Years After Laparoscopic Sleeve Gastrectomy: Results of a Retrospective Study.

PURPOSE: Laparoscopic sleeve gastrectomy (LSG) is one of the most effective bariatric surgery methods of treatment for obesity. It can cause nutritional deficiencies and lead to anemia at the same time. The aim of the present study is to retrospectively investigate whether the supplement treatment administration to cases that underwent LSG is sufficient in terms of the hematological parameters. MATERIAL AND METHODS: A total of 494 obese patients between 18 and 65 years who underwent LSG were recruited to the study. Vitamin B12, iron, and folic acid replacement therapy are prescribed to all patients who can be followed-up at regular intervals. We compared hemogram, iron studies, vitamin B12, and folic acid values of these patients at preoperative and at first visit (1 month), 3, 6, 12, and 24 months post-surgery. RESULTS: The number of patients with anemia and vitamin B12 and folic acid deficiencies decreased significantly during the follow-up with supplementation. Postoperative leucocyte and thrombocyte levels were significantly lower than the preoperative levels. CONCLUSION: Our study indicates that the proper supplementation therapy in patients attending regular follow-up helps to keep hematological parameters within the normal range and to improve anemia and deficiencies of vitamin B12 and folic acid. Compliance with follow-up programs is essential after costly and invasive treatments such as sleeve gastrectomy to improve the well-being of patients in the long-term and to maximize compliance.

Treatment modalities of non-Hodgkin lymphoma patients over 65 years of age: A two-center experience.

OBJECTIVE: This study was conducted with the aim of making the contribution to a decision for treatment and determination of the modalities in patients diagnosed with non-Hodgkin lymphoma which increasingly become widespread in the geriatric population. MATERIALS AND METHODS: Ninety-one patients aged over 65 years diagnosed with lymphoma and treated in Bezmialem Vakif University Medical Faculty Hospital and Haseki Training and Research Hospital between 2008 and 2013 were retrospectively evaluated. Finally, 63 patients for whom data could be reached were included in the study. RESULTS: Examining the results, histological diagnoses of our patients were as follows: diffuse large B-cell lymphoma (50.8%), follicular lymphoma (23.8%), marginal zone lymphoma (12.7%), mantle cell lymphoma (4.8%), T-cell lymphoma (4.8%), lymphoplasmacytic lymphoma (1.6%) and small lymphocytic lymphoma (1.6%). Stages at the time of diagnosis were early stage by 33.3% and late stage by 66.7%. Of the patients, 36.5% had a low-intermediate and 63.5% a high-intermediate International Prognostic Index score. According to the Eastern Cooperative Oncology Group scoring, 34.9% of the patients have an Eastern Cooperative Oncology Group score of 2-4. Activities of daily living score of 33.3% patients was under 5. Looking at the responses to treatment, the complete response was found in 50.8%, partial response in 4.8%, stable disease in 1.6% and progressive disease in 9.5% of the patients. The mean follow-up duration of patients was found as 25.2 months and disease-free survival after remission as 20.2 months. CONCLUSION: We found that we have achieved a complete remission in more than half of our patients (50.8%). Based on this, treatment should aim remission in elderly patients.

The assessment of total antioxidant capacity and superoxide dismutase levels, and the possible role of manganese superoxide dismutase polymorphism in acromegaly.

Oxidative status is attributed to endothelial dysfunction and might be one of the key mechanisms of endothelial dysfunction in acromegaly. In this study, we aimed to investigate the effect of acromegaly on superoxide dismutase (SOD) and total antioxidant capacity (TAC) levels, and the possible influence of human manganese superoxide dismutase (MnSOD) polymorphism on these levels. 51 acromegaly patients and 57 age and sex matched healthy subjects were recruited to the study in Bezmialem Vakif University Hospital between 2011 and 2014. The median SOD and TAC levels were 42.7 (33-60) pg/mL and 1,313.7 (155-1,902) µM in acromegaly; and 46.3 (38-95) pg/mL and 1,607.3 (195-1,981) µM in healthy subjects (p < 0.001, p < 0.001). SOD levels were decreased in controlled and uncontrolled patients compared to healthy subjects (p = 0.05 and p = 0.002, respectively). Controlled and uncontrolled acromegaly displayed significantly decreased levels of TAC compared to healthy subjects (p < 0.05 and p < 0.001, respectively). SOD levels were not associated with MnSOD polymorphisms in acromegaly. In conclusion, this study showed that acromegaly was associated with decreased levels of SOD and TAC, and controlling the disease activity could not adequately improve these levels.

The Role of p16 and MDM2 Gene Polymorphisms in Prolactinoma: MDM2 Gene Polymorphisms May Be Associated with Tumor Shrinkage.

AIM: Prolactinomas are thought to arise from clonal expansion of a single mutated cell which is subjected to growth stimuli of several permissive factors, although the pathogenetic mechanisms underlying tumorigenesis remain unclear. The present study aimed to investigate the role of p16 (540C→G and 580C→T) and mouse double minute 2 (MDM2) (SNP309T→G) gene polymorphisms in tumorigenesis and characteristics of prolactinoma. PATIENTS AND METHODS: A total of 74 patients with prolactinoma and 100 age- and gender-matched healthy individuals were enrolled in the study. Serum prolactin levels were measured by enzyme-linked immunosorbent assay (ELISA). p16 and MDM2 polymorphisms were determined by polymerase chain reaction-restriction fragment polymorphism and agarose gel electrophoresis. RESULTS: p16 540C→G genotype distribution was found to be: CC: 66.2%, CG: 28.4%, GG: 5.4%; p16 580C→T genotype distribution was found to be: CC: 82.4%, CT: 17.6%, TT: 0% and MDM2 genotype distribution was found to be: TT: 31.1%, TG: 47.3%, GG: 21.6% in patients with prolactinoma. Tumor diameter before treatment was correlated with prolactin levels before treatment and percentage of prolactin decrease with treatment (r=0.719, p<0.001, p=0.034 r=0.256, respectively). The number of patients with tumor size decrease of more than 50% in those with homozygous genotype (TT+GG) of MDM2 SNP309T→G was significantly higher than in heterozygous genotype (TG) carriers (odds ratio(OR)=0.18, 95% confidence interval(CI)=0.06-0.58; p=0.003). CONCLUSION: This study showed that p16 and MDM2 polymorphisms do not play a decisive role in tumorigenesis, but some genotypes of these polymorphisms might be associated with follow-up characteristics of prolactinoma.

Does DRD2 polymorphism influence the clinical characteristics of prolactinoma?

OBJECTIVES: Genetic alterations explaining the clinical variability of prolactinomas still could not be clarified and dopamine D2 receptor (DRD2) polymorphism is a putative candidate for the variable response to dopaminergic treatment. The present study was conducted to investigate the influence of DRD2 TaqI A polymorphism on initial and follow-up characteristics of prolactinoma. PATIENTS AND METHODS: Seventy-two patients with prolactinoma and 98 age and gender matched control subjects were recruited to the case-control study. Serum prolactin levels were assessed by enzyme-linked immunosorbent assay and DRD2 polymorphism was determined by polymerase chain reaction and restriction length polymorphism analysis. RESULTS: Decrease of prolactin levels and the tumor shrinkage after cabergoline treatment were 93.9±5.9% and 58.3±33.1% in microadenomas and 96.1±6.1% and 51.7±29.3 in macroadenomas (P=0.02 and P>0.05, respectively). We observed no significant difference for DRD2 genotypes and the alleles between the patients and healthy group (P>0.05). Prolactin levels before treatment were correlated with tumor diameter before and after treatment and the percentage of prolactin decrease with treatment (P<0.001 r=0.58, P<0.001 r=0.40 and P<0.001 r=0.47, respectively). Tumor diameter before the treatment was also correlated with the tumor diameter after the treatment (P<0.001 r=0.64) and the percentage of prolactin decrease (P=0.01 r=0.30). However, no significant association was found between characteristics of prolactinoma and DRD2 genotypes and alleles (P>0.05). CONCLUSION: This study revealed that DRD2 TaqI A receptor polymorphism was not associated with the development of prolactinoma and its clinical characteristics. Future studies are needed to clarify the clinical implications of genetic alterations in prolactinoma.

Acromegaly can be associated with impairment of LES relaxation in the oesophagus.

INTRODUCTION: Although prolonged small intestine and colonic transit time has been demonstrated in acromegaly patients, the influence of acromegaly on oesophagus motility and the pathological mechanisms involved are still not clarified. We aimed to investigate manometric measurements to ascertain whether oesophagus motility is affected in active acromegaly patients. MATERIAL AND METHODS: The study was performed in an institutional referral centre at a tertiary care hospital. Twenty-three acromegaly patients (mean age 43.2 ± 13.2 years) and 25 sex- and age-matched healthy control subjects (mean age 48.6 ± 7.9 years) were recruited to a case-control study. Oesophageal manometry was performed using MMS (Medical Measurement Systems, Netherlands) Solar GI - Air Charged Intelligent Gastrointestinal Conventional Manometry. RESULTS: In manometric measurements the lower oesophageal sphincter pressure was 18 ± 7 mmHg in acromegaly patients and 15.6 ± 4.4 mm Hg in controls, and there was no significant difference (p = 0.17). The percentage of relaxation was 64.8% and 81.8%, respectively, and it was significantly lower in acromegaly patients than in controls (p < 0.001). Additionally, the duration of relaxation was found to be 4 ± 1.9 seconds and 5 ± 1.7 seconds in patients and controls, respectively (p = 0.049). CONCLUSIONS: Our study has demonstrated a significant reduction in the percentage and duration of lower oesophageal sphincter relaxation in oesophagus motility even in acromegaly patients without any gastrointestinal symptoms. Further clinical and pathophysiological studies are required to clarify the underlying mechanisms of gastrointestinal motility disorders in acromegaly.

Investigation of the vitamin D receptor polymorphisms in acromegaly patients.

OBJECTIVE: The genetic structural alterations in the majority of somatotroph adenomas are not clarified and the search for novel candidate genes is still a challenge. We aimed to investigate possible associations between vitamin D receptor (VDR) polymorphisms and acromegaly. DESIGN, PATIENTS, AND METHODS: 52 acromegaly patients (mean age 45.7 ± 1.9 years) and 83 controls (mean age 43.1 ± 2.6 years) were recruited to the study. VDR polymorphism was determined by polymerase chain reaction-based restriction fragment length polymorphism methods. RESULTS: The distribution of VDR genotypes showed a significant difference in the frequencies of VDR FokI genotypes between patients and controls (P = 0.034). VDR FokI ff genotype was significantly decreased in acromegaly patients (P = 0.035) and carriers of FokI Ff genotype had a 1.5-fold increased risk for acromegaly (OR: 1.5, 95% CI: 1.07-2.1; P = 0.020). IGF1 levels after treatment were significantly higher in patients carrying the Ff genotype compared to carrying ff genotype (P = 0.0049). 25(OH)D3 levels were significantly lower in acromegaly patients (P < 0.001). CONCLUSIONS: Our study suggests that VDR FokI genotypes might affect the development of acromegaly and VDR polymorphisms may play a role in the course of acromegaly as a consequence of altering hormonal status.

Rapid improvement in visual loss with cabergoline treatment in a giant prolactinoma case: 5 years survey.

Giant prolactinoma is a rare subset of macroadenomas. Limited studies demonstrated which therapy could be successfully used in the first-line therapy of giant prolactinoma. We presented a case with a 54 × 40 × 40 mm pituitary adenoma and optic chiasmatic compression with left sphenoid sinus invasion. The tumor caused a loss of visual field of the right side. Cabergoline treatment was started with dose of 1.5 mg/week. Fifteen days later, the clinical visual acuity examination showed a significant improvement in the patient with visual field defect. After the five years follow-up magnetic resonance imagining showed reduction of the adenoma size (17 × 12 mm) was significant. Our findings suggest that, cabergoline can be used as a first-line therapy in giant prolactinomas because tumoral shrinkage without a surgical procedure and rapid improvement in visual field defect is achieved with this medical treatment.

Evaluation of clinical and laboratory findings with JAK2 V617F mutation as an independent variable in essential thrombocytosis.

Essential thrombocythemia (ET) is an entity of classic Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs), characterized by thrombocytosis with megakaryocytic hyperplasia and thrombocytes are increased with abnormal functions. Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better understanding of the pathogenetic mechanisms of MPNs. Acquired single point mutation in the JAK2 V617F was determined approximately 50-60 % of patients with ET. In this study we aimed to investigate the relationship between JAK2 V617F gene mutation, hematologic, biochemical markers and the complications in the ET patients. A total of 268 patients diagnosed with ET and 219 of those studied for JAK2 gene mutation were followed at the hematology clinics of three major hospitals between 2008 and 2013 were screened retrospectively. Laboratory, clinical and hematologic parameters were compared for JAK2 V617F positive and JAK2 V617F negative patients with ET. 102 (46 %) patients were positive with the JAK2 V617F mutation. The complications were observed in 61 (28 %) patients and 38 (62 %) of them had JAK2 V617F mutation. The levels of white blood cells, neutrophil, basophil, red blood cells, hemoglobin, hematocrit, mean platelet volume, thrombocytes, eosinophil; urea, creatinine were significantly different in patients with the JAK2 V617F mutation (P < 0.05). Presence of the JAK2 V617F mutation supports the diagnosis of ET. It would be useful to investigate the JAK2 V617F mutation and the hematologic and biochemical markers at diagnosis with respect to consider the risk of developing complications and to take the precautions against these complications.

Esophagus motility in overt hypothyroidism.

PURPOSE: Gastrointestinal tract is one of the most affected systems in hypothyroidism. Despite decreased esophageal emptying, prolonged esophageal and gastric transit time have been indicated in previous reports, the mechanism of thyroid hormones activity and antibodies on the esophagus motility is not yet fully understood. This study was conducted to evaluate the esophagus motility by manometry in hypothyroid patients. METHODS: The study enrolled with 28 overt, newly diagnosed hypothyroid patients and 29 age- and sex-matched healthy controls. Twenty-one females and 7 males with overt hypothyroidism and 22 females and 7 males with healthy control subjects were recruited to study. Esophageal manometry was performed using MMS (Medical Measurement Systems bv. The Netherlands) Solar GI-Air-Charged Intelligent Gastrointestinal Conventional Manometry. RESULTS: The lower esophageal sphincter pressure (LESP) was 19.5 ± 6.5 mmHg in hypothyroid patients and 17.48 ± 4.65 mmHg in controls, and there was no significant difference (p = 0.18). Percentage of relaxation was 61.5 and 80.9 %, and it was significantly lower in hypothyroid patients than controls (p < 0.001). Additionally, duration of relaxation was found 3.85 ± 2.3 and 5.5 ± 2.28 s in patients and controls, respectively (p = 0.009). In patient group, LESP was positively correlated with fT3 (p = 0.033), and the duration of the contraction was negatively correlated with fT4 (p = 0.044). CONCLUSION: In this study, we observed that hypothyroid state can affect esophagus motility via shortened duration of relaxation and reduced percentage of relaxation even if in patients without any gastrointestinal symptoms. Further studies are needed to clarify the effect of thyroid hormones on esophagus motility.

Complications of therapeutic apheresis in children.

UNLABELLED: Since the equipment of therapeutic apheresis is prepared for adults, the use of it in children may lead to higher complication risks and there are little data in children undergoing therapeutic apheresis. METHODS: In this study the complications experienced during therapeutic apheresis in children between April 2010 and May 2012 at our center are analyzed retrospectively. There were 14 patients who had undergone a total of 50 sessions of therapeutic apheresis. The ages of patients' ages ranged from 20months to 16years. The procedures were plasma exchange and leukodepletion. RESULTS: Complications were observed in four patients. One of them was vascular access complication because of insufficient flow. Urticeria was observed in two patients. Abdominal pain and chilling were other complications. Our patients, who underwent TA, did not experience major complications. Minimal or mild allergic reactions were observed and treated by medications. For extracorporeal volume erythrocyte prime is useful. TA will be performed more successfully with correct planning and close examination of the patient with an experienced team.