ACTA ENDOCRINOLOGICA (BUC)

Objective. To examine the prevalence of laryngopharyngeal reflux disease (LPRD) in patients with hypothyroidism.\r\nMaterials and Methods. A total of 85 patients with hypothyroidism vs 31 matched controls were recruited. Demographic data was collected and an RSI questionnaire\r\nfilled. A score > 10 was considered diagnostic of LPRD. The average score of every question was computed for all patients and compared to the corresponding average score in controls.\r\nResults. Mean age of hypothyroidism patients was 44.92 ? 13.77 years (83% females). One third of subjects were smokers and 10% had allergy. In 78.8% of the cases Hashimoto?s disease was the etiological factor and 22.4% patients had history of thyroidectomy. At the time of examination, only 30% had a TSH > 4.2 mU/L. There was\r\na borderline significance where more patients than controls had a RSI > 10 (24.7% patients vs. 9.1% controls), but with non-significant difference (p = 0.077). Similarly, closer\r\nexamination of those with TSH > 4.2mU/L compared to those with controls revealed a higher prevalence in the former group, but statistically non-significant (p = 0.275). A\r\ncomparison between those with TSH > 4.2 mU/L and cases diagnosed with hypothyroidism and normal TSH revealed no\r\nsignificant difference in the prevalence of LPRD. All laryngopharyngeal questions had a score higher in the hypothyroid group than controls.\r\nConclusion. LPRD is more prevalent in hypothyroidism patients compared to normal individuals, but with nonstatistically significant difference. The prevalence of symptoms should alert physicians to the possibility of LPRD and prompt further diagnostic tests and therapeutic intervention.

Objective. Antithyroid drugs, surgical excision, and radiation therapy with 131I are the common treatment modalities thyrotoxicosis. The medical treatment of\r\nthyrotoxicosis has approximately 0.35% serious complications which consist of agranulocytosis, liver necrosis and failure. Therapeutic plasma exchange is an effective\r\npreoperative preparation method in thyrotoxicosis patients who are candidates for surgery and unable to manage an euthyroid state with medical treatment.\r\nPatients and Methods. This study was constructed between 2002-2009 in 9 patients who were resistant or had complications with medical treatment of thyrotoxicosis. The\r\ntherapeutic plasma exchange procedures were performed with discontinuous flow cell separator devices.\r\nResults. Seven patients were females and 2 patients were males. The mean age was 51.22 years (32-78 years). The mean duration of the disease was 35.4 months (3-120 months). The patients underwent 3.3 (2-6 sessions) session of therapeutic plasma exchange before surgery. The mean volume of\r\nplasma exchange was 10549 mL (7150-18372 mL). The plasma is exchanged with %10 albumin and/or fresh frozen plasma. The\r\ncomplication rate was 22% during therapeutic plasma exchange. Four patients underwent near total thyroidectomy and five patients underwent total thyroidectomy. The mortality rate was zero. Neck hematoma causing acute\r\nrespiratory compromise and requiring urgent evacuation developed in one patient.\r\nConclusions. Total plasma exchange is an effective and safe procedure in preoperative preparation of the patients with thyrotoxicosis who were resistant or complicated with\r\nantithyroid drug in which a high level of concern and steady supervision is mandatory to prevent life threatening preoperative and postoperative complications.

Context. Osteonecrosis (ON) is bone death caused by inadequate blood supply and its optimal management remains uncertain. Objective. We describe the outcomes of BP (pamidronate) treatment in our patients. Design. Data regarding clinical, laboratory, magnetic resonance imaging (MRI) studies, and bone mineral density measurements (BMD) were recorded before and one year after treatment (reevaluation). The severity of the clinical picture was assessed using the criteria of the common terminology criteria for adverse events (CTCAE). Subjects and Methods. There were four female patients (patient 1, acute lymphoblastic leukemia; patient 2, immune thrombocytopenic purpura; patients 3 and 4, systemic lupus erythematosus) .All of them had been treated with high-dose prednisolone. Clinical picture of all patients were consistent with grade 3 according to CTCAE(: severe symptoms, limiting self-care ). Results. ON lesions were multifocal in the lower limbs in all of them and none of them had any fractures. All of them had been treated with high-dose glucocorticoid. Patients were treated with pamidronate (1 mg/kg/day, with maximum dose of 60 mg/day, for two days, quarterly). At the time of re-evaluation(one year after treatment), the lesions were stable on MRI, and their clinical condition was consistent with grade 1 according to CTCAE(asymptomatic). No side effects related to the use of bisphosphonates were observed except for increased BMD (SD score of 2.9) in one of the patients. Conclusions. Pamidronate may be an effective treatment for the improvement of functional impairment and pain among patients with severe osteonecrosis (ON) lesions.

Thyrotoxic periodic paralysis (TPP) is an uncommon complication of hyperthyroidism that is described more frequently in young Asian men. TPP represents an endocrine emergency that may be life-threatening if it is not promptly recognized. TPP is manifested as recurrent events of hypopotassemia and muscle weakness lasting a few hours. Definitive treatment is represented by the treatment of thyrotoxicosis. Case Report. We report a case of a 47 years old Caucasian male with hypokalemic periodic paralysis as initial sign of Basedow-Graves disease. The pathogenesis of TPP is multifactorial and has the final effect of activation of Na+/K+-ATPase pump. The numerous endocrine and genetic mechanisms of activation of Na+/K+-ATPase pump in TPP are discussed.

Background. Graves’ disease results in various clinical cardio-pulmonary manifestations such as tachycardia, atrial fibrillation, and pulmonary edema. Clinical Case. A 62-year-old woman presented with palpitations and dyspnea. Laboratory and radiologic examination revealed markedly elevated free T4 (4.79 ng/dL), T3 (4.42 ng/mL), lowered TSH (0.01 uIU/mL), atrial fibrillation and multifocal lung haziness. She was initially diagnosed with atrial fibrillation with pulmonary edema, which subsequently changed to pulmonary alveolar proteinosis by further evaluations such as computed tomography and bronchoscopic biopsy. Conclusion. Pulmonary alveolar proteinosis is a rare lung disease. Clinicians should carefully assess lung lesions in thyrotoxicosis patients as they can be easily mistaken for pulmonary edema in clinical practice.

Context. Cardiovascular risk is increased in women with polycystic ovary syndrome (PCOS). Do insulin sensitizing agents such as metformin (MET) and myoinositol (MI) ameliorate biomarkers of cardiovascular risk? Objective. To compare the effects of MET and MI on blood pressure, lipid profile and high sensitive C-reactive protein (hs-CRP) in women with PCOS in respect to their body mass index (BMI). Design. Open label, parallel randomized, single center study. Subjects and Methods. Sixty six women with PCOS (33 normal-weight and 33 overweight/obese) were randomized to either MI (4 g/day) or MET (1500 mg/day) for a period of 6 months. Serum concentration of hormones, lipid profile, oxidized LDL (ox-LDL), hs-CRP, blood pressure measurement and clinical assessment of BMI, waist circumference (WC) and Ferriman Gallwey score (FG score) were performed before and after treatment. Results. Thirty patients in each group completed the trial. Compared with MET, MI significantly decreased diastolic blood pressure (DBP) (p=0.036) and significantly increased serum hs-CRP (p=0.043). No differences between groups in total cholesterol (TC), HDL-cholesterol, LDLcholesterol, ox-LDL and triglycerides were reported after 6 months. Treatment with MI reduced BMI (p=0.037), WC (p=0.005), DBP (p=0.021) and TC (p=0.008). During MET treatment a significant decrease in BMI (p=0.005), WC (p=0.004), FG score (p=0.001), testosterone (p=0.013) and free androgen index (FAI) (p=0.006) was observed. Conclusions. Our study showed an advantage of MI in reduction of DBP and TC thus predicting favorable metabolic and cardiovascular outcomes in PCOS women. MET more effectively decrease indices of hyperandrogenism.

The 2011 American Thyroid Association (ATA) guidelines recommended that the interpretation of thyroid function in pregnancy be based on trimester specific reference ranges: TSH values should be 0.1-2.5 mIU/L (first trimester), 0.2-3.0 mIU/L (second trimester), and 0.3- 3.5 mIU/L (third trimester)(1). Recently, a study performed on a nationwide cohort of 6671 Danish healthy pregnant women and published in June 2016 in Journal of Clinical Endocrinology and Metabolism (4) showed first trimester values of TSH varied according to gestational week. Up to sixth week of pregnancy, TSH levels had nonpregnant reference ranges. During weeks 9- 12, TSH serum level were 0.4 mUI/L lower than non-pregnancy upper limits, with lower range of 0.1 mUI/l. So, the use of uniform limits of TSH normality for the entire first trimester may lead to frequent misclassification and unnecessary treatment given. Although with indolent behavior, patients with encapsulated follicular variant of papillary thyroid carcinoma (EFVPTC) are often treated as classical papillary thyroid carcinoma. In a retrospective study recently published in the Journal of the American Medical Association Oncology(5), authors reevaluated 268 EFVPTC. In group 1(noninvasive EFVPT), patients observed for 10 -26 years and all were alive with no evidence of disease. Based on this low risk of adverse outcomes of patients from group 1, authors suggested a new nomenclature for this thyroid tumor: “noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP)”.

Background. Isolated methylmalonic acidemia refers to a group of inborn errors of metabolism characterized by elevated methylmalonic acid concentrations in the blood and urine. It occurs in approximately one to three out of every 100 thousand Chinese newborns. Mutations in the MMAA gene cause isolated methylmalonic acidemia. Case presentation. A 13-month-old boy was diagnosed with isolated methylmalonic acidemia. We identified two mutations in the MMAA gene in this case: c.491G>A and c.650T>A. The c.491G>A is a novel mutation in the MMAA gene. The boy is a heterozygous carrier of both mutations. The boy was treated with intravenous sodium benzoate and fluids. His sensorium gradually improved and he recovered from the acute illness. Other family members are heterozygous carriers of either mutations but with no symptoms. Conclusions. We identified a novel c.491G>A mutation in the MMAA gene. Heterozygous carriers of both c.491G>A and c.650T>A mutations are associated with isolated methylmalonic acidemia.