ACTA ENDOCRINOLOGICA (BUC)

Introduction. First election treatment in Cushing’s syndrome is the surgical therapy (pituitary or adrenal). Pharmacotherapy is used: before surgery, when the surgery was ineffective, in association with radiotherapy or in cases of refuse or contraindications for surgery. Aim of the study. Testing the effectiveness and safety of Ketoconazole treatment in patients with Cushing’s syndrome. Methods. We studied 12 patients with Cushing’s syndrome treated with Ketoconazole between 2010 and 2013. We followed cortisol levels before and during treatment, the doses of Ketoconazole and the time required for normalization of cortisol, “the escape syndrome” and the adverse effects. Results. Eleven (91,66%) patients had ACTH – dependent Cushing’s syndrome. The mean basal cortisol before initiation of the therapy was 404.4 ± 71 ng/ml. Two thirds (eight) patients presented a normalization of serum cortisol levels with 300-800 mg Ketoconazole/day, during a mean of 8.5 weeks. Only one patient presented an “escape syndrome” and one presented adrenal insufficiency. None of the patients showed significant side effects under the treatment. Conclusions. Ketoconazole therapy is well tolerated and is effective in most patients with Cushing’s syndrome even in long term use. The resistance and the escape from the effect of the treatment is possible, but rare, patients requiring close monitoring during therapy.

Background. A rising trend in obesity among children has been observed in recent years\r\nin most countries. The majority of obese children will become obese adults having an increased\r\nrisk for chronic diseases associated with obesity, with a negative impact on their lifespan.\r\nObjective. Assesing the obesity prevalence among school children in Cluj-Napoca.\r\nMethods. The study included 7904 school children of all grades (grade 1 to grade 12) from\r\n20 schools in Cluj-Napoca. The weight, height and body mass index (BMI) were recorded for\r\neach child. Using the BMI percentile, they were classified as: normal (BMI < 85th percentile),\r\noverweight (BMI between 85th and 95th percentile) or obese (BMI > 95th percentile). BMI average\r\nand standard deviation have been calculated per age groups and sex.\r\nResults. 8.29% of school children in Cluj-Napoca are obese, while 12.84% of them are\r\noverweight. The difference between sex groups is statistically significant with boys more likely to\r\nbe obese or overweight than girls (p<0.0001). The highest prevalence has been observed among\r\nthe 6-10 years age group, while teenagers have recorded the lowest prevalence figures.\r\nConclusion. Data derived from this study would place Romania among the countries\r\nwith an average prevalence of obesity. However, extending such studies at national level\r\nwould provide more accurate data about obesity prevalence in Romania.

Introduction. McCune-Albright syndrome (MAS) is a noninherited, genetic condition defined by the clinical triad: polyostotic fibrous dysplasia (FD), café-aulait skin spots and different hyper functioning endocrinopathies. Case presentation. The patient, a 39-year-old female previously diagnosed with MAS, presented with severe, left-sided skeletal pain and accentuated asymmetrical facial features. Although there were no clinical signs (except type II diabetes) the hormonal dosages revealed GH hypersecretion and ACTH-independent hypercortisolism. The modified bone anatomy rendered the surgical adenomectomy impossible, whereas radiotherapy was not an option due to the increased risk of sarcomatous transformation of FD; therefore somatostatin analogues were used. Cushing syndrome was cured by left adrenalectomy. For the facial dysmorphism, surgical cure was proposed. CT revealed a pituitary microadenoma, severe craniofacial hyperostosis and left-side macronodular adrenal hyperplasia. Conclusion. We report the case of an adult female with MAS associating both acromegaly and Cushing syndrome, the MAS-Cushing syndrome association having been identified only in children up to present. The setting of a therapeutic strategy in these cases is difficult determined by the multiple concomitant tissue damage and by the limited number of therapeutic options available, not only for acromegaly, but also for pain management and the cure of bone deformities.

Background. Metabolic syndrome is an important risk factor for cardiovascular diseases. \r\nObjective. Evaluating the prevalence of metabolic syndrome and serum profile of adipokines in children with overweight or obesity. \r\nMethods. Sixty two children were included in the study, with a body mass index (BMI) that exceeded 85th percentile. Waist circumference and blood pressure (BP) were recorded, followed by the determination of: glucose, cholesterol, triglycerides, HDL cholesterol, insulin, adiponectin and leptin. The insulin resistance was then calculated. \r\nResults. Of the 52 children included, 28,8% have met the criteria for diagnosis of metabolic syndrome. BMI and BP values were higher in children with metabolic syndrome as well as the values of leptin (69.59 ? 50;89 vs. 58.44 ? 42.28 ng / ml) and insulin resistance (1.65 ? 0 ,74 vs. 1.41? 0.78). We could found a positive correlation, statistically significant between BMI and serum leptin (r = 0.32, p =0.02), BMI and insulin (r = 0.33, p = 0.01) and BMI and insulin resistance (r = 0.33, p = 0.01). \r\nConclusion. Metabolic syndrome has a high prevalence in childhood obesity. The adipokines seem to have a very good correlation with the clinical and bioumoral features of the metabolic syndrome.

Introduction. Recent studies suggest that nutritional status can modify the association\r\nbetween high iPTH and mortality, especially in diabetics and older hemodialysis patients (HDP).\r\nAim. To assess the impact of mineral metabolism parameters in the survival of HDP\r\nin our area and to evidence the factors that influence iPTH levels in our HDP, which are\r\nyounger and have less frequently diabetic nephropathy as the cause of chronic renal failure\r\nthan in most published studies.\r\nPatients and Methods. A prospective cohort study of 126 HDP was recorded for\r\ndemographic, clinical and laboratory data, and after 24 months, the general mortality. Patients\r\nwere divided in two groups, survivors and non-survivors, and each of groups classified according\r\nto the time on hemodialysis (THD). The groups of non-survivors and survivors with THD more\r\nthan 10 year-period were compared to the groups with less than 10 year vintage, regarding the\r\nalbumin levels, iPTH levels, phosphate-calcium metabolism markers, age and sex.\r\nResults. We observed the better survival only for calcium phosphate product less than 55\r\nmg?/dL? (p=0,02). The iPTH level seems to be conditioned by albumin levels. For THD<10\r\nyears, iPTH levels are greater in survivors (p=0.01); in this subgroup we observed higher levels\r\nof serum albumin (p<0.001), the patients were younger (p<0.001), and had 5-fold lower\r\nfrequency of diabetes. For THD>10 years, iPTH levels are greater in non-survivor patients\r\n(p=0.02), as well as calcium, phosphorus and calcium phosphorus product.\r\nConclusions. Calcium-Phosphorus product is a better indicator for survival in HDP in our\r\narea than immunoreactive PTH levels. Immunoreactive PTH as prognostic factor might be\r\nbetter evaluated in association with calcium phosphorus metabolism parameters and albumin\r\nlevels too, even in younger and lower percent-diabetic HDP groups.

Background. Ovarian Leydig cell tumour is a very rare steroid hormones producing mass, causing clinical and biochemical hyperandrogenism. Even if the level of evidence is based on case studies, many authors (but not all) agree that raised androgens increase the cardio-metabolic risk thus early diagnosis and treatment are necessary On the other hand, the endocrine features pointing an ovarian tumour source of testosterone do not indicate the specific histological finding which needs a post-operative conformation. Case presentation. We report a case of a 60-yearold woman with a 4-year history of progressive virilisation in association with hypertension, high number of red blood cells, impaired glucose tolerance and dyslipidemia. Total testosterone was 20 times above normal with suppressed gonadotropins, inadequate for menopause. Trans-vaginal ultrasound and pelvic and abdominal computerized axial tomography imaging revealed a right ovarian solid nodule, and no evidence of alteration in the adrenal glands. Total hysterectomy and bilateral salpingo-oophorectomy were performed. Histopathology and immunohistochemistry confirmed the diagnosis of Leydig cell tumour. After surgery, androgen levels returned to normal and the doses of anti-hypertensive drugs were reduced. Conclusions. The hyperandrogenic state with elevated plasma testosterone and progressive signs of virilization raises suspicion of an ovarian androgen-secreting tumor. For a postmenopausal patient with hyperandrogenism the diagnosis of Leydig cell tumour should be considered. However, the exact diagnosis is provided by post-operative histological exam. Prolonged exposure to hyperandrogenism may generate cardiovascular abnormalities and metabolic syndrome which after tumor excision and removal of the source of androgen hormones are expected to significantly improve.

Introduction. In our department the standard surgical procedure for multinodular\r\ngoiter used to be subtotal resection. Over the years, total thyroidectomy has progressively\r\nreplaced subtotal resections and is performed in most of our patients at present.\r\nPatients and Methods. In a prospective cohort, observational study, we assessed\r\nthe immediate surgical outcome in 742 consecutive patients with multinodular goiter\r\n(MNG), admitted for surgery and operated in our hospital. Of all patients, 664 were women\r\n(89.5%) and 78 men (11.5%), aged 15 to 85 years, mean (?SD) of 48 ?13.8 years. Pathology\r\nwas done on frozen and permanent sections. The complications directly related to surgery\r\nin subtotal thyroidectomy (STT) were compared to total thyroidectomy (TT) or near-total\r\nthyroidectomy (NTT) patients: temporary hypoparathyroidism, temporary RLN injury,\r\npermanent hypoparathyroidism and permanent RLN injury. The &#967;2 test (95% confidence\r\ninterval) was used and values of p<0.05 were considered significant.\r\nResults. There were no significant differences among the patients with SST for\r\nMNG, NTT or TT , and TT for recurrent MNG or completion thyroidectomy, with respect\r\nto temporary and permanent RLN injury. Significant differences were found for temporary\r\nhypoparathyroidism in STT for MNG (9 out of 361 patients, 2.45%) and NTT or TT for\r\nMNG (21 out of 266 cases, 7.89%) (p<0.01) and between STT for MNG (9 out of 361 cases,\r\n2.45%) and TT for recurrent MNG for completion thyroidectomy (8 out of 45 cases,\r\n17.77%) (p<0.01) and no difference between NTT or TT for MNG (21 out of 266 cases,\r\n7.89%) and TT for recurrent MNG or completion thyroidectomy (8 out of 45 cases, 17.77%)\r\n(p=0.11). We registered no permanent hypoparathyroidism in our patients.\r\nConclusions. Total thyroidectomy is now the preferred option for the management\r\nof patients with bilateral benign MNG. However, TT is associated with a considerable rate\r\nof complications, higher than of STT. In patients with bilateral MNG and no malignancy,\r\nSTT remains in our opinion, a valuable option.

Graves&#8217; disease is an autoimmune disorder characterized by various degrees of thyroid gland, eye and skin affection. We present the case of a 36 years old woman diagnosed with Graves&#8217; disease and infiltrative ophthalmopathy class IV according to Werner classification, non-responsive to Methylprednisolone antiinflammatory therapy and to irradiation. From anamnesis we mention Graves&#8217; disease&#8217;s debut approximately one year ago, manifested by thyrotoxicosis features without evident ophthalmopathy. Antithyroid drug therapy was started at debut and maintained for eleven months. One month after antithyroid drug therapy cessation, the patient developed diplopia, periorbital edema, and proptosis. At that moment we decided to initiate intravenous Methylprednisolone therapy using a total dose of 3 grams, followed by oral corticotherapy in association with antithyroid drug therapy. One month later, when bilateral fat tissue hernia appeared in the external orbital angle, we decided to add orbital radiotherapy. In the absence of any evident clinical improvement, immunosuppressive treatment with Cyclosporine 5 mg/kg/day was chosen. Consequently, ,we obtained a significant reduction of eye proptosis, 4 mm at the right eye, and 3 mm at the left eye, a significant reduction of bilateral orbital fat tissue hernia, and no more diplopia.

Background. ROHHADNET syndrome is a pleiotropic disorder defined by rapid onset of obesity, hypothalamic-pituitary endocrine dysfunctions, alveolar hypoventilation and hypothalamic autonomic dysregulation and neural tumors. Case presentation. We report the case of a 5.8-year-old female patient with rapid onset of obesity and growth arrest, hypercortisolism, hyperprolactinemia, low IGF1, severe hypernatremia (with no signs of diabetes insipidus) and chronic hyperchloremic metabolic acidosis. Additional symptoms included sleep apnea and two episodes of cardiopulmonary arrest after mild sedation. Brain MRI, chest and abdominal enhanced CT scans were all negative. As no tumors were revealed at the time of diagnosis, ROHHAD syndrome was suspected. Treatment with potassium bicarbonate was initiated in an attempt to control both the severe hypernatremia and chronic hyperchloremic metabolic acidosis. Patient developed dilated cardiomyopathy and kaliopenic nephropathy. Conclusion. The presence of dilated cardiomyopathy is in keeping with only one other reported case, while the severe hypernatremia joined by hyperchloremic metabolic acidosis seen in our patient has not been presented previously. Although it is a very rare medical condition, ROHHAD syndrome has to be considered in the differential diagnosis of any case with rapid onset obesity associated with hypothalamic-pituitary endocrine dysfunctions, and alveolar hypoventilation.

Anorchia is a syndrome characterized by unilateral or bilateral absence of testicular tissue.\r\nAt puberty, growth and development are normal but secondary sexual development fails to\r\noccur if anorchia is bilateral.\r\nWe present the case of a 21 year-old male with a late diagnosis of bilateral anorchia. The\r\ndiagnosis was suggested by a bilateral empty scrotum, in a patient with male phenotype and\r\npoor secondary sexual development and established by karyotype analysis, hormonal profile\r\nand surgical exploration. The lack of testosterone response to hCG stimulation is the hormonal\r\nhallmark of bilateral congenital anorchia. In the absence of any information about germinal cell\r\npresence, bilateral excision of the testicular nubbins, implantation of testicular prostheses and\r\nhormonal replacement therapy were indicated.