ACTA ENDOCRINOLOGICA (BUC)

Objectives. Turner Syndrome (TS) is associated with a high risk of cardiac anomalies and cardiovascular disease. We aimed to evaluate patients with TS (n=33) for cardiac and aortic pathology using thorax magnetic resonance angiography (MRA). Subjects and methods. Clinical findings, karyotypes, echocardiogram (ECHO) findings and thorax MRA results were evaluated. Aortic dimensions were measured and standard Z scores of aortic diameters along with aortic size index (ASI) were calculated. Results. Mean age of the patients was 13.7±3.4 years. MRA revealed cardiovascular pathology in 10 patients (30%). CoA (n=4), aberrant right subclavian artery (n=3), dilatation of the ascending aorta (n=1), tortuosity of the descending aorta (n=1) and fusiform dilatation of the left subclavian artery (n=1) were found. Two of the four patients with CoA found on MRA were detected with ECHO. Mean diameter of the sinotubular junction was found to be elevated [mean±SD: 2.4±1.5]. Z scores for the diameters of the isthmus, ascending aorta and descending aorta were in normal ranges. 45,X patients were found to have significantly higher ASI values than non 45,X patients (p=0.036). Conclusion. Our findings indicate that patients with TS should be evaluated with MR imaging studies in addition to ECHO to reveal additional subtle cardiac and vascular anomalies. CoA which is very distally located or which has mild nature may not be seen by ECHO. The increase in ASI observed in 45,X patients may herald the development of life-threatening complications. Therefore, frequent followup is warranted in these patients.

Objective. In our study, we aimed to investigate the levels of irisin, nesfatin-1 and the relationship between levels of these relatively new molecules with cardiometabolic risk markers; carotid intima-media thickness (CIMT), epicardial adipose tissue (EAT) thickness in patients with nonfunctional adrenal incidentaloma (NFAI). Materials and Methods. Patients with NFAI (n=59) and age, sex and body mass index-matched healthy control subjects (n=59) were enrolled in this study. Serum glucose, insulin, C-reactive protein (CRP), lipid, irisin and nesfatin-1 levels and echocardiographic CIMT and EAT thickness measurements were performed in patients and controls. Results. The irisin level was 17.58 ± 4.38 pg/mL in the NFAI group, significantly higher (p<0.001) than 14.03 ± 4.03 pg/mL in the control group. Nesfatin-1 level was significantly lower in the NFAI group 194.98 ± 119.15 pg/ mL ((p < 0.001)) versus 303.48 ± 200.78 pg/mL in the control group. A positive correlation was found between irisin and nesfatin-1 levels and CIMT and EAT thickness in the NFAI group. Conclusions. In our study, we found that irisin level was higher and nesfatin-1 level was lower in patients with NFAI, and both irisin and nesfatin-1 levels were associated with CIMT and EAT thickness in NFAI patients.

Background. Warthin-like tumor of the thyroid (WALTT) is a very rare variant of papillary thyroid cancer.We want to draw attention to this rare condition by reporting two cases. Patient reports. Patient 1 was a 24 year-old woman presented with 14×12 mm solid nodule on the left lobe of the thyroid gland. Fine needle aspiration biopsy of the nodule was reported as suspicious for papillary thyroid carcinoma. Patient 2 was a 40 year-old woman who had multinodular thyroid gland with a 31×26 mm major nodule on the left lobe. On fine neddle aspiration, cytologic findings were consistent with papillary thyroid carcinoma. Both underwent total thyroidectomy and histological examination of the cases revealed Warthin-like tumor of the thyroid. Summary and conclusion. We report two patients with WALTT. This rare variant of papillary thyroid cancinoma has four main histologic criteria: papillary architecture, oxyphilic cytoplasmic changes, papillary nuclear features and dense lymphoid infiltrate. WALTT can be distinguished from other aggressive variants with these distinct histological features. Since variants show different clinical behaviour, classification of these might be helpful to predict patient prognosis.

Background. Hyperuricemia is associated with non-alcoholic fatty liver disease (NAFLD). Aim. We therefore aimed at evaluating the influence of allopurinol on the course of NAFLD in rats. Study Design. We divided 21 mature albino Sprague Dawley rats into three groups: controls (n = 7, normal diet for 12 weeks); NAFLD rat models (by feeding water containing 30% fructose for first 8 weeks) treated with allopurinol subsequently for the next 4 weeks (n = 7); and similar case treated with placebo (saline) subsequently for the next 4 weeks (n = 7). Methods. We compared the histopathological scores, IL-1 and IL-2 immunoexpression levels across the groups. Liver histopathological score was determined by observing the steatosis (the percentage of liver cells containing fat): <25% = 1+, 25% - 50% = 2+, 51% - 75% = 3+, >75% = 4+; inflammation and necrosis: 1 focus per low-power field = 1+; and 2 or more foci = 2+. The number of liver IL-1 and IL-2 positive cells was measured by systematically scoring at least 100 hepatocyte cells per field in 10 fields of tissue sections by a magnification of 100. Results. Xanthine oxidase (XO) activity and lipid peroxidation was significantly different in the allopurinol group compared to the saline group (XO; 0.098 ± 0.006 mU/mg vs. 0.162 ± 0.008 mU/mg, p = 0.01, 0.116 ± 0.040 nmol malondialdehyde/mg versus 0.246 ± 0.040 nmol malondialdehyde /mg, p = 0.01). The allopurinol group had lower histopathological scores, IL-1 and IL-2 immunoexpression levels in the liver compared to the saline group (2.13 ± 0.35 against 5.45 ± 0.24, p = 0.003, IL-1; 5.76 ± 0.43 against 12.85 ± 3.26, p = 0.023, IL-2; 8.55 ± 1.14 against 56.23 ± 7.12, p = 0.002). Conclusions. Allopurinol has a therapeutic role against the progression of NAFLD of the rats.

Context. Thyroid incidentaloma is a common disorder in endocrinology practice. Current literature regarding the risk of thyroid cancer in incidentalomas found in patients with non-thyroid cancer is limited. Objective. The aim of the present study was to investigate the frequency of thyroid malignancy in thyroid incidentalomas detected in patients with non-thyroid cancer. Design. Case control study. Subjects and Methods. The database of 287 thyroid nodules from 161 patients with a history of nonthyroid cancer followed between 2008 and 2014 were retrospectively evaluated. Results. From 287 thyroid nodules, 69.7 % had a benign final cytology. Thyroid cancer detected in one nodule while follicular neoplasia detected in 4 nodules, atypia of unknown significance (AUS) detected in 10 nodules, Hurthle cell neoplasia detected in 5 nodules and suspicious for malignancy detected in 6 nodules according to fine needle aspiration biopsy results. Metastasis of the non-thyroid cancer to the thyroid gland was detected in 4 nodules. Twenty seven nodules from 15 patients were removed with surgery. There were 3 malignant nodules found after surgery (1 papillary, 1 follicular and 1 medullary cancer). In addition to these three thyroid cancers, two patients with benign nodules had co-incidental thyroid cancer detected after surgery. Finally, 11.1 % of thyroid nodules which underwent thyroid surgery had malignant histopathology except for co-incidental and metastatic cancers. Conclusions. The frequency of thyroid malignancy seems not to be substantially increased in incidental thyroid nodules detected in patients with non-thyroid cancer when these patients were evaluated in nodule-based approach.

Context. It is a challenge to determine the origin of Cushing syndrome (CS), especially in patients with low-normal adrenocorticotropic hormone (ACTH) concentrations. Objective. To evaluate the reliability of the corticotropin-releasing hormone (CRH) stimulation test in patients with CS whose origin of disease was not clearly identified using ACTH values, the high-dose dexamethasone suppression test (HDDST), and imaging in a single tertiary referral center. Design and Methods. Twenty-one patients with CS who were admitted to the endocrinology-metabolism clinic between 2004 and 2016 whose ACTH concentrations were 5-20 pg/mL and needed CRH stimulation test were retrospectively assessed. Results. Nine out of 21 patients were diagnosed as having Cushing’s disease (CD) and 12/21 had adrenal CS. The CRH stimulation test had a sensitivity and specificity of 100% and 8%, and positive and negative predictive values of 100% and 45% according to the current diagnostic criteria, respectively. An increase in ACTH ≥115% at 15 minutes and cortisol ≥86% at 60 minutes after CRH were associated with the highest likelihood ratio. The sensitivity and specificity of ACTH was 67% and 83% (AUC=0.75±0.12, 95% CI: [0.5-0.9]; p=0.03), and for cortisol it was 75% and 78% (AUC=0.71±0.15, 95% CI: [0.5-0.9]; p=0.03). Cortisol suppression of more than 64% from basal level in the HDDST suggested CD with the highest likelihood ratio. When these cut-off values were used together, both tests were negative in the patients with CD. Conclusion. The CRH stimulation test has low specificity to localize CS in patients with ACTH concentrations of 5-20 pg/mL according to the current diagnostic criteria. Different diagnostic criteria may be used in the CRH stimulation test and also in the HDDST in this group of patients.

abdominal cystic lesions should include investigation of cystic pheochromocytomas. To date only a few cases of purely cystic pheochromocytoma have been reported in the English literature. Aim. To present the management in four cases of silent pheochromocytomas patients who presented with pure or partially cystic abdominal lesions with benign (n:3) and malignant characteristics (nonspecific neuroendocrine tumor) (n:1) in histological evaluation. Results. Resection of the tumor is considered the primary treatment option in the management of pheochromocytoma, and preoperative preparation with alpha and beta antagonists is crucial in order to avoid precipitation of hypertensive crisis during surgical procedures. The absence of clinical symptoms and lack of typical radiological features may complicate the diagnosis of pheochromocytoma resulting with increased mortality and morbidity during surgery. Conclusion. Asymptomatic pheochromocytomas are rare and they are responsible for approximately 5% of adrenal incidentalomas. These lesions may be referred to surgery as clinically nonfunctional adrenal adenomas.

Sotos syndrome is characterized by overgrowth, macrocephaly, distinctive facial features, and learning disabilities and is associated with alterations in the nuclear receptor binding SET domain protein 1 (NSD1) gene. Due to the advanced bone age, the eventual adult height is usually at the upper limit of normal. In this case report, a 6-year and 10-month old boy who presented with Sotos syndrome was described. He also had increased testicular volumes with advanced bone age. The stimulated levels of gonadotropins revealed central precocious puberty and brain magnetic resonance imaging (MRI) showed a pineal cyst. A heterozygous duplication variant [NM_022455.4:c.4560dup; p.(His1521Thrfs*9)] in the NSD1 was identified. Triptorelin acetate treatment was started. The aim was to report the novel duplication variant in the NSD-1 in a patient with Sotos syndrome accompanied by a pineal cyst and central precocious puberty, and also to discuss the rationale for treating precocious puberty.

Context. The detrimental effects of hyperinsulinemia on human ovaries during follicular development process have been shown in various studies, particularly in women with polycystic ovary syndrome. To our knowledge there is no study regarding the effect of insulin resistance (IR) on the intrauterine insemination (IUI) success in women with unexplained infertility (UEI). Objective. To evaluate the effects of IR on the occurrence of pregnancy among infertile women undergoing ovulation induction (OI) with IUI for UEI. Design. Prospective cohort study. Subjects and Methods. 173 patients who met the criteria for UEI and under the age of 35 were included in this study. All women underwent OI with IUI and, subsequently, they were divided into two groups based on the presence of pregnancy. Data reviewed for analysis were demographic, clinical, and laboratory features. Results. There were 37 (21.4%) cycles with pregnancy and 136 (78.6%) cycles without pregnancy. Median infertility duration was significantly lower in the pregnant group when compared with non-pregnants (p=0.018). The mean number of previous cycles per patient was also lower in this group (p=0.028). No significant differences were found between the groups in terms of other variables. Levels of insulin, fasting glucose and HOMA-IR were also similar between the two groups. Conclusions. IR calculated by using HOMA-IR index has no positive or negative effect on the occurrence of pregnancy in women undergoing OI therapy with IUI for UEI.