ACTA ENDOCRINOLOGICA (BUC)

Context. We aimed to examine the factors affecting adverse gestational outcome in gestational diabetes (GDM) patients, who were grouped as obese and normal- weight, having only-diet, or insulin treatments. Subjects and Methods. The study included 373 patients, treated with diet or insulin. These patients were sub-grouped as obese and non-obese, and examined retrospectively. The variables affecting adverse gestational outcome in obese GDM patients having dietary and/ or insulin treatments were detected with multiple regression analysis. Results. The weight gained during pregnancy in the GDM group having insulin treatment was more than the one in only-diet treated GDM group (p=0.004). Pre-pregnancy body mass index, the weight gained during pregnancy, hemoglobin A1C levels in the second and third trimesters, caesarian rates were higher in the insulin-treated obese patients than in the other groups (p<0.001). The odds ratio for fasting blood glucose level in insulin-treated obese GDM group was 1.081 (95% CI =1.004 - 1.163) (p=0.039); and it was 0.982 (95% CI =0.924 - 1.002) (p=0.048) for the weight gained during pregnancy, in only-diet treated obese GDM patients. Conclusion. The control of weight gained during pregnancy, and of fasting blood glucose levels in obese patients having GDM, is important to decrease adverse gestational outcome.

Objective. Unilateral adrenalectomy (UA) is an alternative for treatment in bilateral adrenal incidentaloma (AI) to avoid possible long-term risks of bilateral adrenalectomy. In this study, we aimed to evaluate the effectiveness of UA in bilateral AI patients with subclinical hypercortisolemia (SH). Method. A total of 35 patients were included in this study. The patients were divided into two groups; those who underwent UA (n=27) and patients without adrenalectomy (PWA) (n=8). Hormone tests related to cortisol mechanism were reviewed to analyze results at the time of diagnosis compared to the latest available results to figure out any changes in cortisol mechanism and determine whether SH has recovered or not. Results. Median age of PWA group were higher compared to UA group (p=0.03). Median duration of followup in groups were similar (p=0.3). In the PWA group, none of the patients recovered from hypercortisolemia during their follow-up. In UA group 92.6% of the patients went into remission, whereas during follow-up 3.3% had recurred and another 3.3% were found to have post-adrenalectomy persistent SH. Patients in UA group had lower final cortisol level following dexamethasone suppression (p=0.003) and higher final adrenocorticotrophic hormone (ACTH) levels (p=0.001) than patients in PWA group. In UA group, final basal cortisol level (p=0.009) and final cortisol level after 1 mg dexamethasone suppression test (DST) (p=0.004) were lower than corresponding levels at the time of diagnosis. Discussion. Our study demonstrates unilateral adrenalectomy targeting the side with the larger lesion is an effective approach to reduce excess cortisol levels in bilateral AI patients with SH.

Introduction. The Antley-Bixler syndrome (ABS) is an extremely rare syndrome characterized by congenital\r\ncraniosynostosis and radiohumeral synostosis. Many patients demonstrate defects in steroidogenesis and disturbances\r\nof sexual development.\r\nAim: To present the first documented case of a Romanian patient with ABS.\r\nMaterial and Methods. Alexandru, a 3 year old child, was referred to our department for elucidating a complex\r\nmalformative syndrome that consisted of ambiguous genitalia and skeletal anomalies. We performed a complete assessment that ranged from obtaining a detailed medical history to gene sequencing. The hospital?s Ethical Committy gave\r\nthe authors its approval for using the medical data concerning the case, after the parents signed an informed consent.\r\nResults. Medical history. We note 4 previous admissions to our hospital during which efforts were made to diagnose the\r\nchild?s disorder of sexual development. At 3 months Edwards syndrome was suspected, which was later infirmed. During the third and fourth admission (8 months, 10 months respectively) the suspicion of congenital adrenal hyperplasia (CAH) was raised and then confirmed (impaired steroidogenesis, 46 XX karyotype). The patient was lost to\r\nfollow-up since then, probably due to the parents? inability to cope with the implications of their child?s condition.

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Introduction. Bartter’s Syndrome is a renal tubular defect characterized with low or normal blood pressure, hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism due to renal sodium loss. Herein we reported a case who presented with growth retardation, growth hormone deficiency previously treated with growth hormone for a period of 6 months in mind and with hypopituitarism similar findings such as primary amenorrhea, fatigue, weakness and just diagnosed as Bartter’s syndrome. Case report. A 18 year-old female patient was referred to our hospital for amenorrhea, growth retardation and fatigue. Her history revealed that she was diagnosed with growth hormone deficiency two years ago and given growth hormone treatment for 6 months. Physical examination showed growth retardation. Laboratory tests revealed that serum potassium was 2,3 mmol/L. Further investigations demonstrated metabolic alkalosis, increased urinary potassium excretion and hyperreninemic hyperaldosteronism. The patient was considered as Bartter syndrome and spironolactone, indomethacin and potassium chloride were initiated. While she had growth retardation and primary amenorrhea, we searched basal hormone levels and performed stimulation tests for evaluating pituitary reserve. Insulin tolerance test showed that serum growth hormone and cortisol levels were 10 mcg/dL and 19 mcg/dL respectively during hypoglycemic period. It demonstrated that both of the axes were intact. Luteinizing hormone releasing hormone test showed that hypothalamo pituitary gonadal axis was also intact. Conclusions. Bartter syndrome can lead to growth retardation that mimicking hypopituitarism in case of delay in diagnosis.

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. Impaired flow mediated dilatation (FMD) and increased carotid intima media thickness (CIMT) are the antecedent forms of atherosclerosis. Objective. The aim of this study was to evaluate vascular structural and functional changes in patients with asymptomatic primary hyperparathyroidism (APHPT), and whether biochemical alterations, related with PHPT and oxidative stress marker serum advanced oxidation protein products (AOPPs), may have influence on vascular alterations. Design. This is a cross sectional clinical study. Subject and Methods: Thirty-four patients with APHPT and 29 sex- and age and cardiovascular risk factors matched control cases were included in this study. Endothelial function was evaluated by FMD of the brachial artery; CIMT was measured by ultrasonography; in addition serum AOPPs and biochemical parameters were determined. Results. Serum Ca levels were higher in the patient group [10.93±0.60mg/dL vs. 9.45±0.31; p<0.001]. FMD measurement was significantly lower in patients group [0.07 (0.01-0.26) % vs. 0.14 (0.04-0.22) %; p=0.01]. CIMT measurements were comparable between the groups [52 (35- 69) mm vs. 56 (38-70) mm; p=0.821]. AOPPs levels were significantly higher in the patients [136.43 (55.14-1352) mmol/L vs. 84 (53.18-595.48) mmol/L; p=0.026]. There were significant negative correlations between FMD and serum Ca (r=–0.339, p<0.001); and serum AOPPs levels (r=–0.275, p<0.005). Serum Ca (p=0.007, β=–0.353) and AOPPs (p=0.024, β=–0.243) levels and hyperlipidemia (p=0.024, β=–0.288) were the predictors of FMD. Conclusions. Vascular endothelial function is impaired in patients with APHPT. Hypercalcemia, increased oxidative stress and hyperlipidemia may have role in the pathogenesis of endothelial dysfunction in patients with APHPT.

Context. Atypical antipsychotics (AAs) are the first-line treatments for schizophrenia, schizoaffective disorder and bipolar disorder. However, they are now extensively utilized as off label in a myriad of diseases despite their frequently serious metabolic side-effects and hyperprolactinemia. Objective. The purpose of our study was to observe long-term (one year) prolactin level change in first episode schizophrenia patients treated with one of the four AAs: olanzapine, quetiapine, amisulpride, ziprasidone. Design. This study is an analysis of the prolactin level associated with the atypical antipsychotics used in European First Episode Schizophrenia Trial (EUFEST) study. Subjects and Methods. Seventy-three first episode schizophrenia patients from the 113 patients, randomized to one of the four AAs treatment arms. Prolactin level was obtained at baseline, 6 and 12 months for all the four AAs. Analyses have been done for each antipsychotic separately for each sex. Results. For the male patients neither of the four antipsychotics have been associated with a statistically significant increase of prolactin level in the entire study (p>0.05). In case of the female patients, treatment with olanzapine (p=.021) and ziprasidone (p=.005) has been associated with a decrease of prolactin level in one year compared with baseline. Conclusions. In both men and women, the administration of these four AAs is not associated with the increase of prolactin levels, moreover, in women’s case, there is a reduction of prolactin values at administration of Olanzapine and Ziprasidone. These results are optimistic, suggesting that long term administration of these antipsychotics is safe regarding prolactin level.

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.

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.