ACTA ENDOCRINOLOGICA (BUC)

Context. Germline mutations in Succinate Dehydrogenase Complex Subunit D gene (SDHD) predispose to predominantly benign head and neck and/or thoracic-abdominal pelvic paragangliomas (PGLs). Objective. We present the case of a patient carrying a germline SDHD mutation responsible for multiple PGLs, who was followed for 40 years. He was initially diagnosed with a left cervical PGL at the age of 23 years, treated by surgery. Then, he recurred and developed a multifocal disease. The second-line therapeutic option was a threedimensional conformal radiotherapy performed in 2008. In 2013 the patient had clinical, hormonal, PET- and SPECTCT data revealing a disease progression. The treatment with the long-acting somatostatin analogue Octreotide Lar was carried out till the patient’s death caused by pulmonary embolism in December 2014. Results. Complex treatment led to a long clinical and biochemical remission and control of tumor growth. Conclusions. Despite their usually benign behavior, multicentric SDHD-related PGLs can require a multimodal approach involving surgery, radiotherapy and medical treatment for providing a long-term control of the disease and maintaining a good quality of life.

Context. Polycystic ovarian syndrome (PCOS) is commonly associated with obesity, but the prevalence of the syndrome in obese patients is not well established. Objective. The present study aims to investigate the prevalence of PCOS among overweight and obese premenopausal women and to evaluate the possible associations between the syndrome and metabolic disturbances in obese patients. Methods. Medical records of all women referred to a single endocrine center because of obesity and/or metabolic disturbances during a three-year period were analyzed. A total of 262 overweight and obese patients of reproductive age were included in the retrospective study. Results. The overall prevalence of PCOS using the Rotterdam criteria in the group of overweight and obese women was 26%. The degree of obesity did not influence the PCOS prevalence. Women with PCOS had higher blood glucose and insulin levels after glucose load in comparison to other obese patients despite the younger age. Conclusions. PCOS is a common finding among obese women seeking endocrine help. The oral glucose tolerance test is an important tool for the early detection of carbohydrate disorders in women with the syndrome. Furthermore, screening for PCOS components might be justified in young obese women with pronounced insulin resistance or dysglycemia.

Context. Patients with Cushing’s syndrome (CS) of any etiology experience a number of physical and psychological symptoms which impact negatively on healthrelated quality of life (HRQoL). Subjects and methods. HRQoL was measured using CushingQoL questionnaire. Results. The first part of our study was a crosssectional analysis of 141 patients with CS over a 10-year period. CushingQoL score was lower in pituitary CS compared to adrenal CS. Remission and older age were associated with better outcome on item 7 (physical appearance anxiety). In a multivariate regression analysis after adjustment for etiology, remission status, age, UFC, duration of hypercortisolism and presence of hypercortisolism-associated comorbidities the female gender was the only negative predictor associated with poorer outcome on each of the three scores. The presence of hypercortisolism-associated comorbidities independently predicted poorer outcome on the psychological and the global subscales. The second part of our research was a prospective study of 27 patients with adrenal adenoma. Achievement of remission independently predicted improvement of the total score of any patient. Conclusion. Studying in details and understanding the mechanisms of the impaired HRQoL in patients with CS is the only way to become aware of the problem and create methods that could help these patients.