ACTA ENDOCRINOLOGICA (BUC)

Intracranial germ cell tumors (GCT) are rare brain tumors that typically arise in the pineal or suprasellar regions. Germinomas are highly radiosensitive among pediatric CNS tumors. Suprasellar GCTs most commonly present with hypothalamic/ pituitary dysfunctions. We report a case of an 18 year old boy with particularly long term evolution from the onset of symptoms to the positive diagnosis of suprasellar germinoma. At 9 years he was diagnosed with idiopathic central diabetes insipidus and started DDAVP therapy. In the subsequent years he presented delay in longitudinal growth and delayed pubertal development. At 16 years he was referred to our institute with relatively good general condition despite an extremely severe hypernatremia of 186 mEq/L, serum osmolality of 405 mOsm/kg and impaired thirst sensation. He developed sinus thrombosis as a consequence of hyperosmolality and presented intermittent rises of temperature, but no septic episodes. During a long term follow neuroimaging eventually revealed a thickening of the pituitary stalk, mimicking as an infiltrative lesion. Finally, two supracentimetric tumor nodules were shown on contrast enhanced MRI in the suprasellar region and at the floor of the left lateral ventricle. Stereotactic biopsy concluded a pure germinoma, and craniospinal irradiation was performed. At present he has an infracentimetric suprasellar tumor remnant, reperfused sinus veins, optochiasmatic syndrome sequelae. He benefits from L-Thyroxin and testosterone replacement, and maintains hydro-electrolytic balance on DDAVP and controlled oral fluid intake.

Background. Hidradenitis suppurativa (HS) is a chronic, debilitating disease with a profound impact on the quality of life of patients. Objectives. To describe a rare case of HS with postmenopausal onset, to review the literature data regarding late onset HS and to discuss the current knowledge on the role of endocrine abnormalities in the development of HS. Case report. We report the case of a 68-year-old patient in whom HS occurred 10 years after menopause. She was referred to our clinic for the presence of an open fistula on the left groin, fibrotic scars and visible alteration of the vulvar anatomy due to numerous surgical interventions. The patient shared features of the metabolic syndrome (obesity, arterial hypertension, dyslipidemia, aortic atherosclerosis), but showed no signs of virilism and no hormonal abnormality. HS was controlled using antiseptics, topical retinoids and antibiotics. Conclusions. This case is of particular interest given the late onset of HS, long time after menopause. The development of HS requires a complex interaction between genetic predisposing factors, endocrine dysregulation, metabolic alterations, bacterial overgrowth and an aberrant inflammatory response. Evidence points to an important role of sex-hormones in the emergence and progression of the disease, but the underlying mechanisms are still unclear. A better understanding of HS pathogenesis is needed to elucidate the precise way in which endocrine factors influence the disease onset and course. This would guide the way to novel therapies and a better control of this challenging disease.

Context. Suicide is a global public health issue. Bipolar disorder (BPD) has the highest suicide risk among individuals suffering from mental disorders. Serotoninergic dysfunctions have been linked to suicidal behaviour and platelet serotonin is recognised as a reliable index for the presynaptic serotonin activity. Objective. Our aim was to assess whether alterations occur in platelet serotonin concentrations in BPD type I in respect to suicide attempters compared with nonattempters. Design. This was a cross-sectional, observational study. Subjects and Methods. Plasma platelet serotonin concentrations were measured using ELISA technique in 71 BPD I patients. The participants were assigned into 3 groups (non-attempters, low lethality and high lethality suicide attempters), according to the Columbia-Suicide Severity Rating Scale. Socio-demographical and clinical data was obtained by using MINI 6.0 and a semi-structured questionnaire designed specifically for this research. Results. Our study showed significant lower levels of platelet serotonin in suicide attempters compared with non-attempters (p = 0.030) and in high-lethality attempters compared with low-lethality attempters (p = 0.015). The study recorded a higher number of total lifetime and lifetime depressive episodes for suicide attempters with BPD I. Conclusions. Our results subscribe to the importance of platelet serotonin as a reliable biomarker in suicide risk assessment.

Thyrotoxicosis crisis is a major emergency due to the brutal occurrence and\r\nexacerbation of untreated or inadequately treated hyperthyroidism. It has uncharacteristic\r\nsigns all of which require immediate treatment. Thyroid hormones may directly influence\r\nmyocardial oxygen supply and demand and cause a critical imbalance resulting in angina\r\npectoris and myocardial infarction. We present a case patient with a fatal myocardial\r\ninfarction (MI) secondary to thyrotoxicosis. The patient presented classical coronary risk\r\nfactors and unknown hyperthyroidism, which was taken into consideration as a possible\r\ncause of the acute coronary syndrome. Although he was under anti - ischemic agents and\r\ndespite normal coronary arteries he developed MI and cardiogenic shock and died due to\r\nthyroid storm aggravated by iodine contrast and catecholamine agents.

Objectives. To assess the effects of electroacupuncture (EA) at the Zusanli (ST36), Guanyuan (CV4), Zhongwan (CV12), and Fenglong (ST40) acupoints on sirtuin 1 (SIRT1) and glucose transporter type 4 (GLUT4) expression in high-fat diet (HFD)-induced insulin-resistant (IR) rats. Methods. Wistar rats were divided into normal control (NC), HFD, and HFD+EA groups. NC rats were fed a standard chow diet and did not receive EA. After being fed an HFD for eight weeks, rats in the HFD+EA group received EA at 2 Hz five times a week for eight weeks. Rats in the HFD group did not receive EA. Results. In HFD-induced IR rats, EA inhibited body weight increase and water intake, which were observed in HFD rats. EA had no effect on fasting blood glucose and postprandial blood sugar levels. Intraperitoneal insulin tolerance testing revealed that EA enhanced insulin sensitivity in HFD-induced IR rats. Compared with NC rats, SIRT1 and GLUT4 were downregulated in the quadriceps femoris of HFD-fed rats but were increased after eight weeks of EA stimulation. Conclusions. EA enhanced HFD-induced insulin resistance by activating SIRT1 and GLUT4 in the quadriceps femoris. These results provide powerful evidence supporting the beneficial effects of EA on HFD-induced insulin resistance.

recently. However, the nature of the signals that may connect body fat/muscle tissues with the central nervous system governing energy homeostasis remains to be elucidated. Objective. The present study was designed to investigate the effects of peripheral kisspeptin-10 administration on irisin release in human males. Subjects and methods. Kisspeptin-10 was administered to normal weight (n=8) and obese (n=8) men. Sequential blood sampling was performed for 30 minutes pre and 210 minutes post kisspeptin injection at 30 minutes interval. ELISA kit was used to detect plasma irisin levels. Results. There is a significant (P<0.0001) effect of Kisspeptin-10 administration on irisin release in both normal weight and obese participants. Mean irisin levels (96.24 ± 1.351 ng/mL) at 210 minutes were significantly (P<0.0001) enhanced as compared to pre-kisspeptin (59.18 ± 4.815 ng/ mL) in normal weight subjects. In obese subjects mean irisin levels (75.76 ± 4.06 ng/mL) were significantly (P<0.0001) elevated at 180 minutes post-kisspeptin when compared with pre-kisspeptin irisin levels (41.28 ± 2.89 ng/mL). Conclusion. Our findings suggest that kisspeptin may have a novel therapeutic potential to induce irisin release in humans which may have anti-obesity effects.

Purpose. Short chain fatty acids (SCFAs) play a major regulatory role in adipocyte function and metabolism. The aim of this study was to investigate the effects of SCFAs on adiponectin and leptin expression in adipocytes, and also to determine whether the effects of SCFA treatment in visceral adipocytes obtained from healthy subjects are different relative to the effects in adipocytes from patients with type 2 diabetes. Materials and Methods. Human pericardiac preadipocytes and human pericardiac preadipocytes type 2 diabetes were differentiated into adipocytes for 21 days in 48-well plates. After differentiation, two kinds of mature adipocytes, human pericardiac adipocytes (HPAd) and human pericardiac adipocytes-type 2 diabetes (HPAd-T2D) were incubated with or without 1 mM of acetic acid (AA), butyrate acid (BA), and propionic acid (PA). After 48 hours of incubation, intracellular lipid accumulation was measured using oil red staining. In addition, mRNA levels of adiponectin, leptin and Peroxisome Proliferator-Activated Receptor γ (PPARγ) were determined by Real-Time PCR system. Results. In HPAd, SCFA supplementation did not inhibit lipid accumulation. By contrast, both AA (p<0.01) and PA (p<0.01) significantly inhibited lipid accumulation in HPAd-T2D. Regarding mRNA levels of adiponectin, no significant changes were found in HPAd, while all three types of SCFAs significantly increased (p<0.05) adiponectin expression in HPAd-T2D. Leptin mRNA expression levels were significantly increased by treatment with all three types of SCFAs in both HPAd (p<0.05) and HPAd-T2D (p<0.05). Conclusion. SCFAs inhibited lipid droplet accumulation and increased mRNA expression of adiponectin and leptin in T2D-derived adipocytes.

Background. Hashimoto thyroiditis (HT) is an autoimmune disease and the most common cause of hypothyroidism. The widespread lymphocyte infiltration in the thyroid gland and intolerance of the body against its thyroid antigens leads to the destruction of thyroid cells and impaired thyroid function. Granulysin (GNLY) is a cytolytic antimicrobial peptide that has been associated with a wide range of diseases such as various infections, cancer, transplantation, and skin problems. However, there are a few studies investigating the relationship between HT and granulysin. Aim. Our study aims to investigate whether granulysin levels and GNLY gene polymorphism contribute to the damaged immune response leading to HT. Material and Methods. 100 unrelated patients diagnosed with HT and 140 healthy individuals were included in our study. Frequencies of GNLY rs10180391 and rs7908 gene polymorphisms were determined using PCR- RFLP method and serum granulysin levels were determined using ELISA. Results. There is no statistical significance between patient and control groups in terms of genotype and allele frequencies of GNLY gene polymorphisms and serum levels of granulysin. Conclusion. In conclusion, granulysin and GNLY gene polymorphisms do not appear to relate to HT disease.

Background. Paget Disease (PD) is usually asymptomatic and discovered incidentally, it is known that it is exhibited low to high grade increased F-18 FDG uptake. Aim. In this study, we investigated the distinguishability of FDG PET/CT in incidental PD cases from other bone diseases and at different stages of the disease. Patients and Methods. In this cross-sectional, descriptive study, “Paget” identification associated with PET/ CT reports was found in 69 of 18,119 studies (~3.8%). Of the 45 patients (33 males and 12 females) eligible for inclusion in the study, 35.6% had monostotic and 64.4% had polyostotic disease (p>0.5). There was no statistically significant difference in biochemical parameters between groups. Results. According to the radiological appearance of the patients, 36 were in the mixed stage and 9 were in the blastic stage. Only the difference in ALP and creatinine values between the groups was statistically significant. SUVmax, SUVmean and HU values were found to be statistically significantly higher in pagetoid bones compared to control bone lesions. For SUVmax for PD bone lesion we found the 2.55 cutoff point with a sensitivity of 91% and a specificity of 84%. Conclusion. The specific radiological appearance of bone lesions and the evaluation of metabolic activity compared to normal bone seem to help differentiate PD from other lesions. Prospective studies are needed in the differentiation of FDG's disease stage and treatment response evaluation. The ability to differentiate between benign and malignant FDG avid bone lesions in oncological patients’ enables appropriate patient management, including avoiding unnecessary additional invasive procedures such as bone biopsy.

Introduction. Vitamin D (VD) levels were correlated with different health conditions, including reproductive disorders in males. Vitamin D action is mediated through vitamin D receptor (VDR), which acts as a transcription factor. VDR gene promoter is embedded in a GC-rich island. The VDR gene has been shown to have several polymorphisms that affect the receptor function. Aim. To examine the relationship between Cdx- 2 polymorphism (rs17883968), the methylation status of VDR’s promoter and serum levels of 25-hydroxyvitamin D in male infertility. Patients and Methods. A total of 69 infertile men and 37 age-matched controls were enrolled in this study. Vitamin D level assessments were detected using the electrochemiluminescent method. Cdx-2 VDR polymorphism identification was performed by PCR on DNA samples from blood, followed by restriction. Methylation of VDR gene promoter was assessed by qMS-PCR using bisulfite-treated DNA from fresh sperm. Results. Vitamin D levels was found to be significantly decreased in infertile groups compared the controls (p=0.0279). The GG genotype was found in a higher percentage in controls and the AA genotype was higher in infertile group (p=0.0056). Infertile homozygote (GG) and heterozygote (GA) individuals had significantly higher vitamin D levels than AA homozygote. Methylation is higher in individuals with lower vitamin D levels and AA genotype is characterized by higher methylation values. Conclusion. The results provide new insights of Cdx-2 polymorphism is involved in vitamin D deficiency, highlighting the important role of epigenetic modification of vitamin D receptor and male infertility along with the genetic context.