ACTA ENDOCRINOLOGICA (BUC)

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.

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Context. Orbital pseudotumor (OP) is a benign inflammatory process of the orbit with a large polymorphous lymphoid infiltrate, associated with fibrosis in variable amounts, localized or diffuse. Graves’ ophthalmopathy (GO) is the most common cause of proptosis, unilateral or bilateral. Case report. We report a patient with unilateral proptosis who was initially treated with antithyroid drugs for an euthyroid Graves disease, but the extension of the investigation infirmed this. The MRI findings (inflammation of fat, muscle and the left lacrimal gland) in conjunction with the biopsy infirmed the initial diagnostic and confirmed the OP. Conclusions. Orbital pseudotumor is a rare disorder that can image and clinically mimics some inflammatory disease especialy Graves’ ophthalmopathy. Orbital MRI represents the most important test for diagnostic. A negative TRAb in euthyroid cases of proptosis can be a serious starting point for investigating an OP.

Study Objective. To elucidate the association between POF and inhibin alpha (inhibin α) G769A gene mutation and BMP15 variants in patients with POF.\r\nDesign. Prospective analytic study.\r\nSetting: University hospital.\r\nPatients. Forty subjects were included, twenty patients with premature ovarian failure, of them 12 presented with primary amenorrhea and 8 with secondary amenorrhea, and twenty control subjects. Genetic analysis for inhibin α gene was\r\ndone by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism analysis (PCR- RFLP) and Bone Morphogenetic protein 15 (BMP15) by PCR- sequencing analysis. \r\nMeasurements and Results. Regarding the inhibin α G769A gene\r\nmutation, heterozygous form was found in 3 patients of the primary amenorrhea group, while none of the secondary amenorrhea group or the control group displayed this mutation. A statistically significant prevalence of the G769A mutation among Egyptian women with POF presenting with\r\nprimary amenorrhea was found. Mutational analysis of BMP15 gene performed by sequencing analysis showed no mutation\r\namong the patient or control group.\r\nConclusion. In this study we concluded that inhibin α G769A gene mutation is more frequent among cases of POF presenting with primary amenorrhea and its presence conferred higher risk to development of POF. Variations of BMP15 gene were not encountered in the subjects of this study.

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Background. To evaluate iodine status and the prevalence of thyroid disorders in different populations of Zhoushan Island, China.\r\nMethods. A total of 3284 inhabitants of Zhoushan Island were surveyed, including 1389 urban residents, 737 salt workers, 502 peasants, 362 fishermen, and 294 monks from Mount Putuo. All subjects, except for salt workers, consumed iodized salt. A thyroid ultrasound was performed and serum levels of\r\nthyroid hormones and thyroid peroxidase antibody were measured.\r\nResults. The median urinary iodine concentration was significantly higher in subjects who consumed iodized salt than in those who consumed non-iodized salt. No significant differences were noted in the prevalence of thyroid ultrasound abnormalities and functional thyroid disorders between subjects who consumed non-iodized and iodized salt except between salt workers and monks from Mount Putuo. The prevalence of thyroid ultrasound abnormalities differed\r\nsignificantly between males and females and was positively correlated with advanced age (r=0.212, P<0.001).\r\nConclusions. Iodine intake is considered adequate, more than adequate, or excessive amongst the study populations. The\r\nprevalence of both thyroid ultrasound abnormalities and functional thyroid disorders is extremely high in Zhoushan Island. Advanced age and female gender are significant predictors of thyroid ultrasound abnormalities.

Despite an adequate medical treatment of Graves ophthalmopathy (GO), sometimes surgery is required to establish accurate eye movement and avoid severe complications. We present such a woman with Basedow's disease and evolutive exophthalmia despite adequate medical approach. At the admission (2005) she had clinical signs of thyrotoxicosis, TSH = 0.1 mUI/L, FT4 = 4.2 ng/dl and antithyroperoxidase antibodies = 342 UI/ml. Proptosis was 26 mm at the right eye and 25 mm at the left one, with intraocular tension 20 mmHg and NO SPECS score 4. Treatment with methimazole (30 mg/day), propranolol (30 mg/day), and corticotherapy (Metilprednisolone, 3x1g/day iv), improved the hyperthyroidism but not the ocular signs. The euthyroidism was maintained with 5 mg Methimazole daily. In February 2006 a new pulse therapy with Metilprednisolone (1g/day iv 3 days) was started, followed by Prednisone 30 mg /day, without significant improvement of the ocular signs. In June 2006, TSH receptor antibodies were high, TRAb=16.3 U/l, with euthyroid status but evolutive proptosis. The MRI showed an increase of the volume of all intraorbital muscles, a decrease of the optic nerve diameter. The patient had progressive GO with photophobia, palpebral edema, hyperlacrimation and conjunctivitis. The surgical treatment was decided when the proptosis was 25 mm and the intraocular tension was 19 mm Hg for both eyes. The patient was submitted to orbital content decompression through lipectomy and osteotomy of the orbital floor. The postoperative follow-up was uneventful. Two years postsurgery, exophthalmometry was 17 mm at right eye and 18 at the left eye, with an intraocular tension of 13 mm Hg. The MRI showed normal intraorbital muscles and ocular globe; the bicanthal lines were anterior to the posterior pole of the ocular globe. The patient had no limitation of the eyes movements, photophobia or conjunctivitis and a significant esthetic improvement.

Thyrotoxic hypokalemic periodic paralysis (TPP) is a disorder leading to hypokalemia and muscle weakness. It mainly affects the Asian population, and it is rare in the Balkan and Caucasian people. We describe a case of a 34 year-old male presenting with TPP. To our knowledge, this case is the third Turkish patient diagnosed as TPP in the English medical literature. He was admitted to the Emergency Department (ED) with generalized weakness. Initial laboratory analysis showed that serum potassium was 1.6 mmol/L. His serum potassium was normalized after intravenous administration of potassium chloride (KCl) of 80 mmol over 4 h and 40 mg of propranolol administered orally, and then his generalized weakness was recovered. Thyrotoxicosis was treated with propylthiouracil and propranolol.

Patients with chronic schizophrenia and psychosis are more prone to develop hyponatremia. Hyponatremia could be due to medications e.g. antidepressants/antipsychotics or secondary to psychogenic polydipsia. They often present with altered consciousness, seizures and falls. Rapid correction of hyponatremia in patients with psychogenic polydipsia has been associated to cause rhabdomyolysis, an under-recognized yet serious condition which if left untreated can result in various complications e.g. acute kidney injury, electrolyte abnormalities. We report a case of young patient who had background illness of schizophrenia and presented to department with severe hyponatremia secondary to psychogenic polydipsia and was eventually diagnosed as case of rhabdomyolysis due to rapid correction of hyponatremia. Objective of case report is to highlight the correct diagnosis of underlying cause of hyponatremia and challenges associated with managing rhabdomyolysis with IV fluids that can result in worsening of hyponatremia, hence emphasizing the importance of close monitoring of sodium levels and measurement of creatine kinase in any patient who presents with severe hyponatremia, particularly in the presence of other risk factors for rhabdomyolysis and consideration of careful fluid administration strategies in relation to the relative onset and risk of over-correcting hyponatremia

Human populations are faced to the COVID-19 pandemic due to the emerging SARS-CoV-2 coronavirus originating from Wuhan (China) and with dramatic Public Health consequences. Despite periods of panic, the scientific community demonstrated an incredible innovation potential and energy ending up in one year with new vaccines to be used in population. Researchers are interrogating on how individual genetic differences contribute to the diversity of clinical manifestations or ethnic and geographic disparities of COVID-19. While efforts were spent to understand mechanistically the infectious potential of the virus, recent progresses in molecular genetics and bioinformatics allowed the characterization of viral sequence and construction of phylogeographical maps of viral dispersion worldwide. These data will help understanding epidemiological disparities among continents and ethnic populations. Much effort was also spent in analyzing host genetics by studying individual genes involved in innate and immune responses or explaining pathogenesis of comorbidities that complicate the fate of elderly patients. Several international consortia launched already Genome wide Association Studies (GWAS) and whole genome sequencing strategies to identify genetic markers with immediate application in patients at risk of respiratory failure. These new genetic data are important not only for understanding susceptibility factors for COVID-19 but they also contain an important message of hope for mankind warranting our survival and health.