ACTA ENDOCRINOLOGICA (BUC)

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.

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Objective. To determine the long-term effect of weight loss on arterial stiffness, metabolic parameters in morbidly obese patients who underwent laparoscopic adjustable gastric banding (LAGB). Subjects. Forty-eight morbidly obese Caucasian subjects underwent LAGB from January 2009 to January 2010 and completed 4 years follow-up. Measurements. Patients were evaluated for body mass index (BMI), waist circumference, arterial blood pressure (BP), metabolic factors: leptin, adiponectin, glucose, glycated haemoglobin (HbA1c), insulin. Endothelial function - evaluated as reactive hyperemic index (RHI). Arterial stiffness - determined by cardio - ankle vascular index (CAVI). Results. Average BMI decreased from 46.48±7.06 kg/m2 to 39.78±7.36 kg/m2 (1year, p<0.001) and 37.29±7.49 kg/m2 (4years, p=0.012). The systolic BP and heart rate reduction were observed after the 4 years. Changes in cardiovascular parameters were accompanied by waist circumference reduction and improvement of glucose metabolism,reduction of insulin, HbA1c, leptin, C-reactive protein values. However, there were statistically significant increases in CAVI 6.58±1.77m/s vs. 7.03±2.00 m/s (p=0.014) at 1 year, but not significant 7.12±2.19 (p=0.153) after 4 years. Endothelial changes were observed only in diabetic patients one year after LAGB 2.18±0.57 vs. 1.86±0.34 (p=0.021) vs. 2.05±0.42 (p=0.086). Conclusion. Weight reduction induced by LAGB was associated with changes in body weight and metabolic parameters, but it was no improvement on endothelial function and arterial stiffness.

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.

Aim. This study aimed to investigate the clinical presentation and treatment outcomes of newly diagnosed acromegaly patients treated with various combinations\r\nof treatment modalities.\r\nMaterials and Methods. Eighty-four acromegaly patients (42 female, 42 male, mean age 40.29?13.32 y), followed and\r\ntreated between 2000 and 2010 were included. Data on patient demographics, delay between onset of symptoms and the\r\ndiagnosis, details of treatments, and treatment- or disease-related morbidity and mortality were collected and analyzed. The median delay time for diagnosis was 60.71 ? 56.19 months. Patients received various combinations of surgery, gamma knife radiotherapy or conventional radiotherapy,\r\nlong acting somatostatin analogue, and dopamine agonist.\r\nResults. After ten years of treatment, median GH and IGF-1 values decreased from 13.7 ng/mL (IQR: 5.3- 34) to 1.04\r\nng/mL (IQR: 0.52-2.7) and from 600 &#956;g/L (IQR: 460.5-787.5) to 194 &#956;g/L (IQR :157-356), respectively (p<0.0001).\r\nMedian GH during 75 g oral glucose tolerance test (OGTT) decreased from 4.35 ng/mL (IQR: 1.87-13.15) to 1.40 ng/mL\r\n(IQR: 0.60-3.40) (p<0.0001). Fifty patients (59.5%) were in remission according to IGF-1 values and 52 patients (62 %) were cured according to nadir GH during OGTT respectively. The mortality rate was 5.9%.\r\nIn conclusion. Strict biochemical control following appropriate intervention significantly reduces both morbidity and mortality in acromegaly patients.

kidney disease (CKD), a growing public health issue, than in general population. The key issue in management of fragility fracture in CKD patients is determining whether fractures have occurred as a result of qualitative abnormalities (consequences of renal osteodystrophy or CKD-mineral and bone disorder), a reduced bone mineral density (osteoporosis) or a combination of both. In CKD patients bone histomorphometry is the gold standard for evaluating bone quality and strength, but the routine use of this method is not practical. Fracture risk can be assessed in this population by DEXA (Dual-Energy X-Ray Absorptiometry), but biochemical markers, like intact PTH and bone-specific alkaline phosphatase may be helpful. The new and emerging high resolution imaging tools need more studies for a correct evaluation of their utility in predicting fracture risk. Pharmacological therapies for fragility fracture based on current understanding of the metabolic disturbances in CKD will be reviewed. Antiresorptive and anabolic agents used in the treatment of osteoporosis are discussed with special focus on CKD population.

Context. The metabolic syndrome is a profound, systemic impairment of the metabolism of lipids, carbohydrates and branched amino-acids, affecting specially obese people. Recently, many studies outlined the presence of the metabolic syndrome, also in non obese persons. Objective and design. To assess the relationship between insulin resistance and the cardiovascular component of the metabolic syndrome in a group of young, non obese subjects using a cross sectional study. Subjects and methods. We enrolled 103 subjects with body mass index < 30 Kg/m2, without metabolic syndrome to whom fasting glucose, triglycerides, high density lipoprotein cholesterol, insulinemia, waist circumference and arterial pressure were recorded in a crosssectional approach. Insulin resistance was evaluated using the homeostasis model assessment for insulin (HOMA-IR) index. Statistic data processing included Pearson relation and multiple regression (backward method), using the SPSS version 21 software. Results. A significant relationship between waist circumference, diastolic blood pressure and HOMA-IR is found. High value of HOMA-IR (>2.6) was more frequently in men (p=0.011). The incidence of the 2 metabolic components mentioned above was higher in the high value HOMA-IR group: 33% vs. 7% in women and 50% vs. 4% in men. Multiple regression showed a strong correlation between HOMA-IR and waist circumference (p<0.001) and diastolic blood pressure (p=0.008) that was maintained inside the women group (p=0.016 and p=0.032, respectively). In men, HOMA-IR correlated with waist circumference (p=0.031). Conclusion. We found a significant interdependence between waist circumference, diastolic blood pressure and HOMA-IR. Based on our results, we consider that lifestyle intervention should start as soon as abnormal waist circumference is recorded.

We report a case of anaplastic thyroid carcinoma mimicking acute thyroiditis with skin necrosis. A 82 years woman, with no significant previous medical disorders, was admitted with a few weeks history of a painful rapidly enlarging neck mass associated with hoarseness, dysphagia to solids, dyspnea and a general state deterioration. Physical exam was significant for a left-anterior lateral neck tumor of about 7 cm. The mass was tender, firm, nonpulsatile and nonfluctuant; it was fixed to the underlying cervical tissues. Antero-cervical skin tissues were swollen, hyperemic, presenting necrosis with penetrating tendency, severe neck pain and tenderness, associated with fever, suggesting an acute thyroiditis. The thyroid function was normal (TSH = 0.81 mUI/L, TT3 = 62 ng/dL, TT4= 8.77 ug/dL) as well as antithyroid peroxidase antibody (0.5 UI/mL), while thyreoglobulin was high (384 ng/mL). Thyroid scintigram revealed a cold nodule. Thyroid ultrasound revealed a giant left thyroid mass with necrosis, lymph nodes involvement and displacement of trachea. Fine needle aspiration confirmed the clinical suspicion features of anaplastic thyroid cancer: mitoses, anisocytosis and marked anisokaryosis with enlarged nuclei. Computed tomography confirmed a voluminous mass involving the thyroid, with calcifications, necrosis with multiple latero-cervical lymph nodes, compressing right carotid artery and internal jugular vein; it was detected also a pulmonary metastasis (right medium pulmonary lobe). The patient was diagnosed on having a thyroid carcinoma of the anaplastic type, TNM stage IVc. Surgery was performed through cervical approach without sternotomy, by total thyroidectomy and resection of proximal cervical structures involved by the tumor mass. After surgery, the patient was started on levothyroxine 100 &#956;g/ day and scheduled for cervical radiotherapy, but the tumor relapsed in several weeks. Local disease can be controlled with radiotherapy either alone or in combination with chemotherapy.

Objective. Obesity is a metabolic condition characterized by increased body fat mass. Increased prevalence of nonalcoholic steatohepatitis (NASH) and increased atherogenicity are closely associated with morbidity and mortality in obesity patients. In this study, we investigated the effect of orlistat, a gastrointestinal lipase inhibitor, on atherogenicity-related and NASH-related indexes in obese patients. Material and Methods. This retrospective study was completed with a total of 139 class III obesity patients with NASH who were admitted to our hospital, creating an orlistat treatment group and a control group. NASH-related indices and atherogenicity indices were calculated at the beginning of the study. These parameters were repeated in the 12th week of the study. Statistical analyzes were performed on the entire patient population and in groups classified according to body mass index (BMI) (BMI <40 kg/m2 and BMI ≥40 kg/m2). Results. As a result of our 12-week study, in addition to the improvement in glycemic parameters and lipid profile, atherogenic indexes (Triglyceride-Glucose index and Triglyceride-Glucose-BMI index) and NASH-related indices (Nonalcoholic Fatty Liver Disease Fibrosis Score, Fibrosis-4 Index, Aspartate aminotransferase-Platelet Ratio Index) superior improvements were achieved compared to the control group (p<0.001). These improvements were similar in groups separated by BMI (p>0.05). Conclusion. In addition to its proven body weight loss effect, Orlistat may be beneficial in the treatment of atherogenicity and steatohepatitis.

Context. Diabetes mellitus is the most frequent chronic complication in pregnancy and continues to contribute to increased perinatal morbidity and mortality in newborns. Macrosomia, respiratory distress syndrome, metabolic and electrolytic disturbances, and increased rates of congenital structural defects are well-known neonatal complications associated with maternal diabetes, even if well-controlled. Case report. A macrosomic infant born from an insulin-dependent mother, with uncontrolled diabetes and lack of adequate prenatal care, prenatally diagnosed with hydrocephaly showed a complicated postnatal course. Initial respiratory distress syndrome and transient hypoglycemia, rapidly corrected under treatment, were followed by persistent hypocalcemia and hyperphosphatemia due to hypoparathyroidism and evolving hydrocephaly. Ventriculoperitoneal shunting was followed by resolution of hypocalcemia, but seizures associated with schizencephaly and recurrent respiratory tract infections, aggravated by spondylocostal dysplasia, concurred to infant’s demise at the age of 5 months. Conclusions. The reported case is rare due to multiple aspects: persistent hypoparathyroidism, uncommon association of schizencephaly, and even rarely association with spondylocostal dysplasia, all these conditions requiring a multidisciplinary therapeutic approach. Also, the reported case is evocative for challenges associated with infants born from diabetic mothers.