ACTA ENDOCRINOLOGICA (BUC)

This study was performed to search the effect of a fiber rich dietary product on anthropometric measurements and some biochemical parameters of obese adult women. A total of 25 adult women (12 were in study and 13 were in control group, all randomly selected) volunteered in this study. At the beginning of the study, height, weight, waist and hip circumferences of all women were measured, and blood samples were collected for fasting blood glucose (FBG), insulin, triglycerides (TG), total cholesterol, HDL-C, LDL-C, VLDL-C levels. Patients having endocrine and metabolic disturbances and who need to use anti-obesity medications were not enrolled. A low calorie weight losing diet consisting of 50-55% carbohydrate, 15-20% protein and <30% fat was given to all cases, but women in the study group were given a specific dietary product rich in apple and wheat fiber as an exchange of one slice of bread every day. Patients were checked monthly with respect to their weight loss and diet adhesion during the three months of treatment period. Although biochemical parameters did not show any significant differences between the two groups at the beginning of the study, FBG and insulin levels were significantly lower in the study group than in the control group at the end of the treatment period. There were also significant decreases in insulin, triglyceride, total cholesterol and VLDL-C levels in the study group after 3 months of treatment, but not in the control group. Women in both groups lost weight, and their waist and hip circumferences decreased significantly. This concludes that the fiber rich, fat, sugar and salt free dietary product could be a useful dietary treatment not only in obesity, but also in dislipidemia and insulin resistant states.

Context. Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder, which is characterized by renal phosphate wasting, hypercalciuria, increased 1,25-dihydroxyvitamin D, and decreased parathormone (PTH) levels. Objective. Here we report different clinical features of two siblings with HHRH, confirmed with molecular diagnosis. Subjects and methods. 16.4 years old boy (P1), and 8.7 years old girl (P2) were referred to our outpatient clinic due to clinical suspicion of metabolic bone diseases. Results. P1 had severe hypophosphatemia. Additionally, PTH concentration was near to the lower limit, 1,25-dihydroxyvitamin-D concentration was near to the upper limit. P2 had relatively milder clinical and laboratory findings. Bilateral renal calculi were detected on ultrasound in both of them. HHRH was suspected due to their described biochemistry and the presence of bilateral renal calculi. Molecular analysis of SLC34A3 gene revealed a homozygous variant c.756G>A (p.Gln252=) and a splice donor variant c.1335+2T>A. After oral phosphate treatment, clinical and biochemical improvements were observed. However treatment nonadherence of patients was a barrier to reach treatment goal Conclusion. The clinical phenotype due to the same mutation in the SLC34A3 gene may vary even among the members of the same family. An accurate diagnosis is important for the appropriate treatment.

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.