ACTA ENDOCRINOLOGICA (BUC)

Background and Objectives. Levels of insulin-like growth factor-I are characteristically low in Laron syndrome which is a factor that has important roles on vascular health and development. Congenital insulin-like growth factor-I deficiency was reported to be associated with some vascular disorders. However, vasculitis diseases and Laron Syndrome association has not been reported in English literature up to date. Patient. We report the case of a two and a half years old Turkish girl, who was diagnosed as Laron syndrome when she was 12 months old. She presented with acute vasculitis lesions. Her physical examination and laboratory studies did not reveal a specific infectious agent or also an autoimmune disease was not detected. Her lesions disappeared during hospitalization without a complication. Conclusion. Since insulin-like growth factor-I reduces endothelial cell oxidative stress and maintains the structural integrity of vessels, some common mechanisms might be responsible for the occurrence of vasculitis in this patient with Laron syndome. The role of insulin-like growth factor-I and recombinant human insulin-like growth factor-I treatment choice in vasculitis diseases is a matter of investigation.

Context. Increased arterial stiffness is an independent risk factor of cardiovascular events in patients with diabetes mellitus (DM). Objective. We aimed to evaluate elastic properties of common carotid arteries (CCA) in patients with DM type 1 (T1DM) by means of ultrasonographically based technique – two-dimensional speckle tracking. Design. Case-control observational study. Subjects and Methods. Examination of both CCA was performed in 50 patients with T1DM. The mean age of patients was 36.1 (±11.9) years and duration of diabetes was 8.9 (±11.9) years. 28 controls (mean age 38.6 ± 10.8) were examined according to the same protocol. Strain and strain rate reflected arterial wall stiffness and intimamedia complex thickness (IMCT) indicate presence of morphological changes. Parameters were compared between groups and regression analysis was performed to predict determinants of evaluated parameters. Results. Patients with T1DM had significantly more elastic CCA arteries than the healthy control (mean strain [%]: 6.05 ± 2.55 vs. 5.19 ± 1.79, p=0.0295; mean strain rate [1/s]: 0.91 ± 0.33 vs. 0.78 ± 0.25, p= 0.0142; respectively), but no significant differences in IMCT were revealed (0.49mm ± 0.12mm vs. 0.49mm ± 0.10mm, p=0.9893; respectively). Women had significantly decreased strain parameters in comparison with men, although the difference in IMCT was not significant. Conclusions. Two-dimensional speckle tracing revealed increased elasticity of CCA in patients with T1DM with no deterioration of arterial wall.

21-hydroxylase deficiency is with 90% the most frequent cause of congenital adrenal hyperplasia and is due to an inborn enzymatic defect of adrenal steroidogenesis inherited in an autosomal recessive manner. Here we report on the mutational spectrum of Romanian patients with classic\r\n21-hydroxylase deficiency and describe differences to other surrounding or Latin countries. The overall genotype-phenotype correlation was 87.8%. A new mutation P94L has been identified in a subgroup of patients with 11-?-hydroxylase deficiency. Furthermore, we address the issues of early alterations in bone mineral density and metabolism as well as early discrete alterations in lipid and carbohydrate metabolism with enhancement of the atherogenic small dense LDL-subfraction and emerging insulin resistance. The relationship of these discrete changes to treatment variables such as the mean and cumulative hydrocortisone dose stress once more the importance of an optimal glucocorticoid treatment with the lowest effective individual doses, to preclude the achievement of a suboptimal peak bone mass as well as the early appearance of traits of the metabolic syndrome.

Context. Intraoperative parathyroid hormone (IO PTH) monitoring has determinative role in surgery for tertiary hyperparathyroidism (tHPT). Objective. We tried to find out whether the extent of surgery to be performed can be dedicated via IO PTH monitoring in tHPT. Design. Renal transplantation (RTX) recipients who had been operated and followed up because of tHPT between 9/2014 and 5/2021 at our institution were retrospectively analyzed. Subjects and Methods. We analyzed the preoperative and postoperative data of 41 patients with tHPT. Results. Considering IO PTH monitoring; 70% and more decrease of the hormone level leaded us favorable results (89% surgical success) regardless of the PTX method (p<0.05). We obtained the same surgical success rate (75%) in patients in whom monitoring was done and was not done. We observed high success ratios (100%) in the latter group via subtotal PTX and total PTX plus auto transplantation (AT) (p<0.05). Conclusions. In surgery for tHPT, IO PTH monitoring should be maintained. When we observe 70% or more decline in the hormone level, we can decide to finish the operation regardless of the surgical technique. If hormone level decrease is below 70%, we have to continue exploration.

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.