ACTA ENDOCRINOLOGICA (BUC)

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Background. Dehydroepiandrosterone sulphate (DHEA-S) is a major steroid product of adrenal glands and an important neurosteroid, but due to only slight androgenic activities pathology of DHEA-S secretion it was rarely described until now. Aim. To report a case of DHEA-S and testosterone secreting adrenal tumour with clinical manifestations of suddenly appeared epileptic seizures, amenorrhea, hirsutism, weight gain and decreased sexual activity before operation, and up to 12 months observation after surgical removal of the tumour. Methods. Presentation of clinical case with comments. Results. Epileptic seizures, amenorrhea, weight gain and hirsutism suddenly appeared in a 38-year-old fertile woman. A right adrenal tumour was detected. Blood levels of DHEA-S and testosterone were very high. Surgical removal of the adenoma (confirmed histologically) was performed what conditioned decrease of DHEA-S, testosterone and other hormones in 2-24 hours for the level of adrenal insufficiency. After a month all the hormones returned to normal level and were maintained at this level for 12 months after operation, excepting aldosterone, which increased gradually. Menses reappeared in six weeks after a short period of hot flashes and perspirations. Seizures did not appear in 12 months. Sexual activity was lowered one month before and after the operation, and it was maximal 6-12 months after operation. Conclusions. We report a case with complete recovery of a 38-year-old woman, presented with epileptic seizures, amenorrhea, hirsutism, weight gain and decrease of sexual activity, before and after surgical removal of DHEA-S and testosterone secreting adrenal tumour.

This paper reviews the class of mineralocorticoid receptor (MR) modulators, especially new nonsteroidal antagonists. MR is a nuclear receptor expressed in many tissues and cell types. Aldosterone, the most important mineralocorticoid hormone and MR agonist, has many unfavorable effects, especially on the heart, blood vessels, and kidneys, by promoting fibrosis and tissue remodelling. Classical synthetic MR antagonists (spironolactone, eplerenone) have proven useful in clinical practice through their antihypertensive effects in resistant forms, and through benefits on morbidity and mortality in heart failure with reduced ejection fraction. These benefits are associated with important side effects, hyperkalemia being the main limitation. In the latest years, a new generation of MR modulators with a nonsteroidal structure has emerged. These compounds are more selective than classical MR antagonists, with much higher affinity for the MR than for the glucocorticoid, androgen, or progesterone receptors. Recent clinical and experimental observations suggest that nonsteroidal MR antagonists, especially finerenone, have proven superior renoprotective properties, antiproteinuric efficacy, inhibition of inflammation and heart fibrosis in animal models, without sharing the side effects of steroidal MR antagonists. Nonsteroidal MR modulators represent an interesting new therapeutic approach for the prevention and progression of chronic kidney disease and for patients with heart failure and renal disease. Despite these promising data, there are still many issues to be clarified and it is necessary to accumulate solid evidence from studies on larger numbers of patients and from head-to-head clinical trials.

Introduction. Vitamin D is involved in differentiation and induction of erythropoiesis in bone marrow cells. Aim. We compared the serum 25(OH) vitamin D level in obese children versus control and found correlations between vitamin D level and hematological indices in obese children. Materials and methods. 25 overweight and obese patients and 15 normal weight children were enrolled in an observational study . Results. In obese children, the serum level of 25(OH) vitamin D was significantly (p<0.04) lower (20.60 ng/mL) compared with the value from normal weight ones (25.63 ng/mL) and the body fat percentage BFP was higher. We found a positive correlation (r=0.44, p<0.05) between serum vitamin D and hemoglobin level and a negative one between serum vitamin D and the number of platelets (r= -0.43, p<0.05). Also, the serum iron was at the lower normal limit in the obese children and negatively correlated with the percent of the body fat (r= -0,62, p<0.05). Conclusion. Obese children have vitamin D deficiency. The hemoglobin level and the number of platelets are correlated with the serum level of 25(OH) vitamin D. Supplements with vitamin D may have pleiotropic effects, including those on bone marrow activity.

Context. High heritability of body composition variables is well-known, however, longitudinal effect of genes is still unclear. Objective. The aim of this study was to investigate the pattern of longitudinal changes in anthropometric variables in a small cohort of twins. Design. Longitudinal classical twin study, performed in 2009 and in 2011 on the same twin pairs. Subjects and Methods. Eighteen healthy adult Hungarian twin pairs (13 monozygotic [MZ], 5 dizygotic [DZ]; mean age 54.0 ± 15.2 years; average body mass index 24.4±5.4 kg/m2 in 2009 and 25.1±4.7 kg/m2 in 2011, respectively) recruited from the Hungarian Twin Registry underwent bioimpedance analysis (OMRON). Results. Significant, higher positive intrapair correlations were detected in the longitudinal change in weight (p<0.05), body fat mass (p<0.01), non-fat mass (p<0.01), and body mass index (p<0.01) in MZ compared to DZ twins, suggesting the possibility of longitudinal genetic determinants. Negative associations were observed with regard to the two-year change in waist and hip circumferences, suggesting the longitudinal role of environmental factors in these phenotypes. Conclusions. The findings of the present human twin study suggest that weight, body fat mass, non-fat mass, and body mass index are determined genetically and longer exposure to pathologic environmental factors is necessary to elicit alterations in the regulation of these parameters. Longer-term confirmation in a larger sample is required to confirm these results.

Sialadenosis is an uncommon, noninflammatory condition which usually causes bilateral, diffuse enlargement of the\r\nsalivary glands, particularly of the parotid. Sialadenosis has been associated most often with alcoholism, eating disorders,\r\nmalnutrition, medications and diabetes mellitus. Herein, we describe a case report of a patient with sialadenosis precipitated by poorly controlled diabetes mellitus.

A number of recent studies in animals and humans have linked energy regulation and the circadian clock at the molecular, physiological and behavioural levels, concluding that disruption of clock genes results in metabolic dysregulation. The search to understand the causes of obesity and diabetes and the development of new therapeutic strategies have mostly focused on caloric intake and energy balance. In this review, we present a global overview of the circadian clock as a critical interface between nutrition and homeostasis.

Objective. Hyperandrogenism is any clinical or laboratory evidence of androgen excess in women. This study was conducted to assess the prevalence of hyperandrogenic disorders especially polycystic ovary syndrome in a random sample of adolescent girls, as well as to identify the clinical, hormonal, ultrasonic, and body composition characteristics associated with such disorders. Patients and Methods. Two hundred school girls (15-18 years old) were selected by random sampling from different secondary schools, and screened for hyperandrogenic disorders by a validated questionnaire and subjected to thorough confirmatory investigations. Results. Twenty-five out of the 200 students were thoroughly evaluated. Eighteen adolescents of the examined students (72%) were finally diagnosed with polycystic ovary syndrome, 5 (20%) with idiopathic hyperandrogenism and 2 (8%) with non-classic congenital adrenal hyperplasia . Despite normal weight percentiles and body mass index for age and sex in 83.3% and 88.9% of students with polycystic ovary syndrome respectively, fat mass, trunk fat percentage, trunk fat mass, and trunk free fat were significantly higher in polycystic ovary syndrome patients compared to controls. Conclusions. Polycystic ovary syndrome was the most common hyperandrogenic disorder in this study. Combined menstrual dysfunction and clinical hyperandrogenism had adequate sensitivity and high specificity in the prediction of polycystic ovary syndrome. Pulse inversion harmonic imaging is an adequately sensitive preferential diagnostic tool of polycystic ovary syndrome in virgin adolescents who may have central adiposity. Body composition assessment by bioelectrical impedence is valuable in detecting central adiposity which could be correlated to parameters of insulin resistance.

Mayer Rokitanski Kuster Hauser (MRKH) syndrome or the congenital absence of the uterus and vagina accounts for 15% of primary amenorrhea cases and is second to Turner syndrome as the most common cause. Affected individuals have a 46,XX chromosomial constitution and normal secondary sex characteristics. Symmetric uterine buds and fallopian tubes are consistant with type A and asymmetric - with type B MRKH syndrome, the latter being associated with other congenital anomalies (renal, skeletal, ear ovarian and cardiac). We studied four patients aged 18-45 years in which type A MRKH syndrome was established by clinical and gynaecological examination, pelvic and abdominal ultrasonography, explorative laparoscopy cytogenetic analysis and hormonal evaluation. Associated disorders were breast fibroadenoma and Graves disease in one case, congenital glaucoma, keratitis, hypocalcemia and simple goiter in another case and polycystic ovaries with clinical signs of hyperandrogenism in the case which can be related to the genetic defect underlying MRKH syndrome. The presence of associated disorders complicates the management of MRKH syndrome which is complex, requires multidisciplinary approach and decreases further the patient?s quality of life.