ACTA ENDOCRINOLOGICA (BUC)

Introduction. Retrosternal goitre enlargement can cause compression of several mediastinal structures, especially the trachea and the superior vena cava. Retrosternal goitre as a cause of superior vena cava syndrome is a rare occurrence. We report the case of a middle aged man that underwent surgery for retrosternal goitre with compression of both innominate veins presenting as superior vena cava syndrome. Case Presentation. A 50 year old man presented with a 2 year history of cyanosis of the upper limbs, head and neck, marked facial edema, plethora, dyspnea on exertion and choking sensation. Pemberton’s sign was present. Computer tomography diagnosed retrosternal goitre at the level of the aortic arch, tracheal compression and important collateral circulation. Endocrine evaluation showed normal thyroid function (fT4 15.8 pmol/L) with low-normal TSH (0.5mU/L), normal calcitonin (<2 pg/mL). The patient underwent successful total thyroidectomy with cervical approach and his symptoms dramatically improved. The facial oedema persisted for the next 3 weeks. Discussion. Less than 3% of superior vena cava syndromes are secondary to a variety of benign causes. Superior vena cava syndrome caused by slow growing retrosternal goitres is very rare and can be asymptomatic for a long period due to venous collateral development. Conclusion. Superior vena cava syndrome secondary to retrosternal goitres, a very rare occurrence, is an indication for total thyroidectomy, with low postoperative morbidity and dramatic resolution of symptoms.

Granulomatous hypophysitis is a very rare inflammatory lesion of the pituitary gland. Its typical clinical presentation is as an expanding sellar mass mimicking an adenoma, making it difficult to confirm the disease without a histopathological examination. Furthermore, determining the underlying etiology is a significant diagnostic challenge for clinicians. Case Report. We report the case of a 42-year-old female who presented with a history of severe headache and a sellar mass on imaging; she was initially diagnosed with an invasive pituitary adenoma but received a final diagnosis of granulomatous hypophysitis. The differential diagnosis was focused on idiopathic granulomatous hypophysitis versus tuberculous hypophysitis. On the one hand, the patient did not present signs of active tuberculosis nor of a systemic disease, and the PCR for mycobacteria on the pituitary tissue was negative; therefore, a diagnosis of idiopathic granulomatous hypophysitis would be appropriate. However, because the patient was proceeding from an endemic zone of tuberculosis and her Mantoux and QuantiFERON tests were positive, tuberculous hypophysitis could not be totally excluded. Conclusions. This case highlights the difficulties of correctly diagnosing granulomatous hypophysitis, even postoperatively, and the need to be aware of this rare entity when evaluating a pituitary enlargement in order to provide the most appropriate treatment.

Background. Adipose tissue is linked to cardiovascular and metabolic complications of diabetes by increased local production of adipokines that may lead to oxidative stress and endothelial dysfunction. Objective. The aim of the present study was to investigate the association between plasma adipokines levels and anthropometric and systemic endothelial dysfunction markers in obese type 2 diabetic patients. Materials and methods. Two groups of type 2 diabetic patients were selected considering their Body Mass Index (BMI) value: group 1, overweight (BMI= 28.4 -29.9 kg/m2; n = 35) and group 2, obese (≥30 BMI≤ 40 kg/m2; n = 45). In all patients there were assessed: height, weight, waist and hip circumference, visceral fat index, albumin/creatinine ratio (ACR), plasma levels of insulin, proinsulin, adiponectin and leptin. The HOMA-IR and waist to hip ratio (WHR)were calculated as well. Results. Comparing the obese diabetic patients with the overweight ones, plasma levels of leptin were higher (p<0.001) while adiponectin levels were lower (p<0.05). BMI was positively correlated with leptin (r=0.661, p<0.001) and negatively with adiponectin (r=-0.338, p=0.008). Moreover, leptin was positively correlated with the waist circumference (r=0.453, p<0.001), visceral fat index (r=0.555, p<0.001) and HOMA-IR (r=0.370, p=0.004) while adiponectin was negatively correlated with waist circumference (r=-0.350, p=0.006), visceral fat index (r=-0.269, p=0.038) and HOMA-IR (r=-0.318, p=0.013). We have also found positive correlation for ACR with HbA1c (r=0.549, p<0.001), glycemia (r=-0.411, p=0.001), HOMA-IR (r=0.445, p<0.001) and with leptin (r=0.276, p=0.033) and negative correlation with HDL-cholesterol (r=-0.304, p=0.018). Conclusions. Leptin and adiponectin, as indicators of chronic low grade inflammatory syndrome are involved in the pathogenesis of insulin resistance and endothelial dysfunction in obese type 2 diabetic patients.

Primary Hyperaldosteronism is one of the causes of secondary hypertension. Primary Hyperaldosteronism is characterised by an increase in the production of aldosterone and the inhibition of the secretion of renin. We described here a case with rhabdomyolysis and severe hypokalemia as a cause of primary hyperaldosteronism. The creatine kinase, aldosterone were very high. Cortisol values and midnight salivary cortisol values were within normal range. The patient had been under treatment for high blood pressure for more than six years, with ARBs and calcium channel blockers. During this time the potassium values measured frequently every year were below normal range, but primary hyperaldosteronism was not suspected.

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 μg/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.

Context. Pituitary adenomas are benign tumors, usually found in men in their 3rd and 5th decades of life, representing 10-15% of all intracranial tumors. The clinical manifestations include important endocrinological disturbances and visual impairment. Objective. This study aimed to determine the most suitable neurosurgical approach regarding the dimensions, extensions and invasiveness of tumor extensions. Design. This was a systematic review of the literature from 2002-2022, focused on clinical outcome, especially endocrinological state according to the surgical approach. Subjects and Methods. We performed an advanced search on Web of Science and PubMed databases on October 10th, 2022. The literature showed 300 studies in the last 20 years, and after we applied the inclusion and exclusion criteria’s, 19 studies were fully read and analyzed. Results. Postoperative complications were reviewed in each surgical approach group, including visual impairment, new endocrinological disturbances, diabetes insipidus and cerebrospinal fluid leakage. Analyze of the endocrinological findings did not determined differences in transcranial groups from transsphenoidal groups. Overall complications were identified in the transcranial cohorts, while cerebrospinal fluid leakage still represent the main problem in transsphenoidal groups. The majority of studies found included extended endoscopic transsphenoidal approach, which shows results of great potential. Conclusions. For the surgical treatment of pituitary adenoma, transsphenoidal procedure with or without extended approaches is preferred, but they’re cases when a craniotomy is mandatory for a feasible gross tumor resection. Combined “above and below” simultaneous procedure or a two-staged intervention is recommended for giant pituitary adenoma, to maximize tumor resection and lower the risk of cerebrospinal fluid leakage.

Background. There are few data to demonstrate the usefulness of N-terminal pro B-type natriuretic peptide (NT-proBNP) for the left ventricular diastolic dysfunction (LVDD) diagnosis in metabolic syndrome (MSy) patients as the relationship between NT-proBNP and MSy components is still under study. Objectives. The present study aims to determine the influence of MSy components on NT-proBNP concentrations. In this respect, we tried to identify the relationship between NT-proBNP concentrations and LVDD in patients with MSy and preserved LV systolic function. Methods. 68 hospitalized obese patients with MSy (IDF2006 definition) were taken under study. All patients underwent Doppler echocardiography. NT-proBNP was determined using the ELISA method (Biomedica). The data obtained in the study group were compared to those of 70 obese subjects, age and sex matched, without MSy. Results. The median of plasmatic NT-proBNP level in MSy patients was 155 pmol/L significantly (p=0.002) higher than in the control group (120 pmol/L). Median NTproBNP was significantly higher (p=0.0266) in MSy patients presenting LVDD (160 pmol/L) as compared to those with normal left ventricular function (125 pmol/L).In the LVDD subgroup NT-proBNP level was positively and significantly correlated with age (r=0.326, p=0.025), SBP (r=0.508, p=0.0003) and DBP (r=0.396, p=0.005) and negatively correlated with waist circumference (r=-0.380, p=0.008). Dyslipidemia, impaired fasting glucose and body mass index (BMI) did not significantly influence NT-proBNP levels. Conclusions. MSy patients had higher NT-proBNP concentrations as compared to obese subjects without MSy, due to the presence of LVDD and the positive and statistically significant correlation with age, SBP and DBP.

Purpose. About 30% of patients with liver cirrhosis have diabetes. Postprandial hyperglycemia is more problematic than fasting hyperglycemia when managing diabetic patients with cirrhosis. Nateglinide decreases in the mealtime plasma glucose levels. The present study aims to determine\r\nwhether nateglinide is suitable for the management of diabetic patients with liver cirrhosis.\r\nMethods. This was a retrospective analysis of the cirrhotic patients who were treated at CNUH between Jan 2003 and Dec\r\n2009. A total of 81 Child-Pugh Class A or B patients who had been treated with insulin (I, n=27) or nateglinide (N, n=27) for at least 12 months were included in the study, while 27 cirrhotic patients without diabetes (C, n=27) were included as a control group. We compared the efficacy of treatment and the safety between the groups.\r\nResults. The basal mean HbA1c level was higher in the insulin treatment group than that in the nateglinide treatment group. The mean HbA1c was lowered in thepatients treated with insulin (9.36 ? 1.71% &#8594; 7.69?1.52%, p=0.026), but this was not changed in the patients treated with\r\nnateglinide (8.01?2.37 % &#8594; 7.78?2.11%, p=0.692) after 12 months treatment. There was no change in the Child-Pugh score in all the groups.\r\nConclusion. In case of mild hyperglycemia, nateglinide may be used for glycemic control in diabetic patients with\r\ncirrhosis as an insulin substitute without worsening the state of liver cirrhosis.

COST (European Cooperation in Science and Technology) is an intergovernmental organization established to fund research networks known as “COST Actions” across the sciences. COST enables break-through scientific developments leading to new concepts and products and thereby contributes to strengthen Europe’s research and innovation capacities. The Action BM1105 investigated the neuroendocrine mechanisms that are integrated at the hypothalamic level and regulate the complex organ network controlling reproduction. Through the development of a networking platform, the Action advanced the field of neuroendocrinology via: guidelines for the best clinical care of GnRH deficient patients, translating scientific understanding into improved patient care and creating a lasting European tradition of excellence in the field of reproductive medicine.