ACTA ENDOCRINOLOGICA (BUC)

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.

Context. Children having gonadal tumors and disorder of sex differentiation (DSD) are rare. Objective. To investigate the presentation of DSD children with malignant gonadal tumors. Methods. A retrospective study from 2010- 2020, that evaluated 17 children with DSD, including 13 females, eight months to 16 years, with congenital adrenal hyperplasia, 5-alpha reductase deficiency, androgen insensitivity syndrome, Turner, Sywer, and Klinefelter syndromes. Results. Ten children had malignant gonadal tumor; nine had germ cell tumors and one person granulosa cell tumors, while seven children with non-malignant tumor had gonadoblastoma, cystadenoma (five children), and cysts. Systemic malformations, obesity, elevated tumor markers, and psychosocial issues were observed in 90%, 90%, 70%, and 50% of children with malignancy unlike 28.6%, 42.9%, 14.35%, and 57.1% children without malignancy respectively. Most (9/10) children >12 years, had psychosocial issues, unlike 0/7 children ≤12 years. From 8/17 children presenting with symptoms suggestive of tumor, 75% had malignancy, while from 9/17 children with DSD presentation, 44% had malignant tumors. Malignancy was observed in 3/10 children between eight months to age six, while 7/10 children had stage 1-2 tumors. We reported a child, identified as female, aged 13 years, with partial androgen insensivity syndrome (PAIS) 46,XY, and testicular papillary serous cystadenoma with genomic variant AR NM_000044.4:c.2750del. p.(F917Sfs*27) chromosome Xq12, never published in people with PAIS nor population databases (GnomAD). Conclusion. DSD diagnosis raises numerous challenges. People with DSD have increased risk of malignancy, especially when obesity and, systemic malformations are present; also, psychosocial issues in these children are associated with postpubertal age.

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.

Background. The most serious complication of central neck dissection (CND) is inadvertent parathyroidectomy. There is no definitive method for intraoperative diagnosis of this complication. Method. We studied on CND indicated 17 thyroid cancer patients (14 female, 3 male, age range: 21-67, mean age: 43.4). The excised CND material was kept in 50 ml of normal saline for 30 minutes. A 2 ml sample was taken from this fluid and sent to biochemistry for rapid parathyroid hormone (PTH) measurement. Results. PTH values were <10pg/mL in 14 patients. PTH values of three patients were very high (112pg/mL, 167pg/mL, 210pg/mL respectively). When the excised tissue in these patients was evaluated intraoperatively with loop glasses, one parathyroid tissue was found in each of the three cases and these were auto-transplanted intramuscularly. After this procedure we kept CND tissue material again in another normal saline of 50mL in 30 minutes and PTH was measured. The values came back as <10pg/mL. No parathyroid gland was found in any case in the postoperative routine histopathological evaluation. No patient had symptoms of hypocalcemia during the eightweeks postoperative follow-up. Conclusion. Inadvertent parathyroidectomy due to CND is a serious complication. This complication can be prevented with the simple method we recommend here.