ACTA ENDOCRINOLOGICA (BUC)

Context. Prognostic considerations include assessing the risk of liver fibrosis in people with nonalcoholic fatty liver disease (NAFLD). Objectives. This study evaluates the use of hematologic and metabolic parameters regarding liver steatosis and fibrosis scores (FLI and Fib-4) in non-obese type 2 diabetes mellitus (t2DM) patients with NAFLD. Methods. Subjects underwent abdominal ultrasound examinations, and FLI and Fib-4 scores were calculated to evaluate liver steatosis and the risk of liver fibrosis non-invasively: 61 non-obese NAFLD subjects with t2DM were included in the cohort study and were divided into 2 groups depending on the t2DM treatment regimen. Results. Fib-4 and WBC count demonstrated a significant inverse correlation (OR = 0.509, p = 0.007). WBC count had an R2 of 0.237, indicating that this marker could account for up to 23.7% of a variation in Fib-4. Fib- 4 and FFA had positive correlation which did not achieve statistically significant prediction (OR=7.122, p=0.062). Additionally, a significant prediction of HbA1c (OR=1.536, p=0.016) and haemoglobin (OR=1.071, p=0.020) for FLI was revealed. Conclusion. HbA1c and other haematological and metabolic parameters, such as haemoglobin and WBC, may be another non-invasive tool for determining whether nonobese NAFLD patients with t2DM are at risk of developing liver steatosis and fibrosis.

Context. The aim of this study was to explore the prognostic significance correlation between the endocrinopathy and the size of the pituitary adenoma with the sellar floor bone mineral density values using microfocus computerized tomography (μCT) analysis. Subjects and Methods. 16 consecutive patients with pituitary adenomas had full endocrinological and radiological work up prior to endoscopic transnasal transsphenoidal surgery. Multiple bony samples were collected from the sellar floor during surgery, and labeled and analyzed in a double blind fashion. Each bone sample was analyzed for bone mineral density (BMD) and Hounsfield units (HU) with microfocus CT. Results. There was no correlation between adenoma size and BMD values of sella floor but grade IV macroadenomas were found to have lower BMD levels. Statistical analysis showed that the level of correlation between grouped BMD (<1.0 and >1.0) data with ACTH (<46 and >46), IGF (<303 and >303), and PRL (<29.93 and >29.93) levels were insignificant (P=.569, P=.315, and P=1.00, respectively) Conclusion. We have found no clinical relationship between sellar floor BMD values and endocrinopathy and the size of the adenoma. However, it was found out that preoperative conventional CT evaluation seemed insufficient in predicting the sellar floor bone integrity and may mislead the surgeon.

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.

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.

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.

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.

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.

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.

A 54 years old man, who had undergone a cystectomy and urinary diversion surgery 31 years previously, complained of progressive generalized bone pain, muscle weakness and walking abnormality for six months. Laboratory investigations revealed elevated alkaline phosphatase, high serum chloride level and metabolic acidosis. Osteomalacia was suspected due to clinical and laboratory findings. Osteomalacia due to hyperchloremic metabolic acidosis is a complication of urinary diversion. Regular monitoring of pH, chloride, bicarbonate, and calcium-phosphorus metabolism is therefore essential for early diagnosis and treatment.

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.