ACTA ENDOCRINOLOGICA (BUC)

In the past years a high interest has been observed for understanding the early stages of type 1 diabetes. That interest has been stimulated by the failures of the various “preventive” approaches of the autoimmune mechanism operating in this phenotype, carried out in young diabetic patients, soon (several months) after the clinical onset of the disease. Unfortunately, the recent Statement of three scientific organisations from the USA proposed a reconsideration of the well-known classical stages, not going backward to know better the true early onset of the autoimmunity, but refining only the second part of the classical stages which are closer to the clinical onset of diabetes (when the β-cell mass/function is about 70% already irreversibly lost). In opposition with the above mentioned initiative, our effort has been devoted to the detection of earlier stages of diabetes which silently operate before the detection of the first islet autoantibodies (mainly proinsulin/insulin antibodies) which strangely was omitted in the new mentioned reclassification of preclinical stages of type 1 diabetes.

Context. Both human immunodeficiency virus (HIV) infection and hepatitis C virus (HCV) infection represent systemic diseases that may develop metabolic complications, thus HIV/HCV coinfection metabolic changes need to be depicted. Objective. We aimed to evaluate the body composition changes in patients with either HIV and HCV monoinfections or HIV/HCV coinfection. Methods. 123 young men divided into three groups: 41 with HIV/HCV coinfection, 42 with HIV-monoinfection, and 40 with HCV-monoinfection were evaluated for total and regional bone and soft tissue body composition assessments using a Dual-energy X-ray absorptiometry (DXA) and were compared with 40 healthy men with age and body mass index similar to the study groups. To detect sarcopenia, we calculated the appendicular limbs’ lean mass index (ALMI), for obesity, we used the percent of body fat, and for lipodystrophy, we calculated the trunk/limbs index. Results. HIV/HCV coinfection is associated with a significant higher bone demineralization in all regions of interest compared to HCV or HIV monoinfections and to controls. The prevalence of bone demineralization in HIV/ HCV patients was 31.7%, more frequently at lumbar spine. Fat mass and lean mass were significantly lower in HIV/ HCV-coinfected patients than in controls. Lipodystrophy was found in similar percentages in all three evaluated groups (80.4% in HIV/HCV, 92.5% in HIV, and 95% in the HCV group). Sarcopenia was higher in HIV/HCV group (43.9%) and important in HCV-monoinfection group (30%). Conclusions. HIV/HCV-coinfected patients had the highest prevalence of bone demineralization, fat mass, and lean mass loss, compared to controls and to HIV and HCV monoinfections.

Thyroid carcinoma is rare in children and adolescents and has a relatively favorable prognosis. As in adults, the incidence in girls is double than in boys. It has a little risk of mortality, but a high risk of recurrence. Patients younger than 15 years old at diagnosis are considered more likely to have more extensive tumor at diagnosis than patients who are 15 years and older. We report two patients: an 11 years old girl with Fallot tetrallogy and papillary thyroid cancer and a 13 years old girl with Graves’ disease treated with antithyroid drugs for three years and thyroidectomized at 17 years old with an incidental thyroid microcarcinoma. Those unusual associations are discussed regarding therapy and follow-up issues.

We describe a case of severe osteoporosis with vertebral fractures in a 30-year-old male with very active Beh?et?s disease treated for nine months with high doses of Prednisone. He was admitted to our department because of classical manifestations of the autoimmune disorder (bipolar aphthous) and also for acute mechanical back pain developed after a minor fall. The X-ray evaluation revealed a spinal fracture confirmed by the CT scan. The DXA evaluation revealed a T-score of -3.4 with an identical Z-score. The patient was diagnosed with severe secondary (glucocorticoid induced) osteoporosis with vertebral fracture and active Beh?et disease.

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Tuberculosis continues to be a universal health problem and recent studies showed an increased incidence of all forms of this disease. We report the case of a 81 year old female patient with a large left cervical tumour and cutaneous lesions that proved to be an unusual form of tuberculosis. The patient had a 2 years history of slowly increasing left cervical mass with no significant clinical manifestation. Medical assistance was requested mostly by the family, concerned about the large mass visible on the left side of the patient?s neck. Clinical and laboratory investigation revealed: a large left laterocervical tumour and the presence of erythematous, non pruriginous skin lesions. No significant changes were shown by routine blood tests. Thyroid function was in the normal range. Neck ultrasound revealed the presence of a 5/6 cm, well defined hypoechoic mass and the thyroid scan showed no accumulation of the radiotracer in the cervical tumour. Routine tuberculosis test was negative and the patient had no sign of pulmonary involvement. Histopathological examination after ablation of this tumour showed the presence of granulomatous lesions suggesting tuberculosis or sarcoidosis. The same aspect was seen after histopathological examination of the specimens from cutaneous biopsy. The diagnosis was certified by the PCR amplification of the DNA extracted from the skin lesions, which led to the identification of Mycobacterium tuberculosis. The cutaneous lesions were clearly improved after tuberculostatic treatment, supporting the hypothesis of a rare form of cutaneous tuberculosis.

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.

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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.

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