ACTA ENDOCRINOLOGICA (BUC)

Background. Early detection of coronary plaques in patients with diabetes mellitus (DM) could play a major role in improving the evolution of these patients, targeting a therapeutic intervention in early stages when the chances to reduce the progression of the disease are higher. Aim of the study was to evaluate the presence of coronary lesions and analyze the plaque morphology in patients with type 2 DM using multislice 64 computed tomography coronary angiography (MSCT), and to assess the cardiovascular risk expressed by calcium scoring (CS) in these patients. Methods. The study included 37 patients with type 2 DM. Mean age was 67.38 years (±19.62). In all cases MSCT was performed, CS was calculated and morphology of coronary plaques was analysed. Results. Coronary artery disease was present in 86.48% cases. CS was <100 in 6 patients (16.2%), between 100 and 400 in 7 patients (18.9%) and >400 in 24 cases (64.8%). Coronary plaques were classified as non-calcified in 142 segments, mixed in 78 segments and calcified in 114 segments. In 40.12% of lesions the plaques were nonobstructive, in 44.91% obstructive, and in 14.91% severely obstructive. Conclusions. In patients with type II DM there is a high incidence of coronary lesions and vascular calcification, which could represent an indicator of the severity of coronary artery disease even in asymptomatic diabetic patients. CS calculated with MSCT is increased in these patients, representing a marker of high cardiovascular risk.

Background. Patients with Down&#8217;s syndrome have an increased prevalence of\r\nautoimmune thyroid diseases.\r\nAim. The purpose of this study was to assess the prevalence of thyroid dysfunction in\r\nchildren with Down&#8217;s syndrome (DS) and to find the best screening and management strategy\r\nin this group of patients.\r\nMethods. A total of 63 DS patients aged between 5 days and 18 years from our University\r\nHospital, were recruited. In all patients, serum free T4, and TSH were measured, the presence\r\nof congenital anomalies and specific clinical findings were assessed. Karyotype was performed\r\nin each case.\r\nResults. Sixty patients showed total 21 trisomy. Mosaicism was present in other 2 cases\r\n(3.17%) and only one girl had 47,XXder(14;21)(q10;q10)+21.\r\nHigh TSH level was seen in 24 out of 63 cases (38 %) of which 1 (1.5%) had congenital\r\nmixedema while the other 23 had a high TSH level. According to TSH levels, these 23 patients\r\nwere divided into two groups: the first group with TSH between 6-10 microUI/mL (17 patients-\r\n27%), and the second with TSH>11 microUI/mL (6 patients - 9.5%). Thyroid ultrasound was\r\nalso performed and antibodies to thyroid peroxidase, anti-TPO, were measured, when TSH\r\nlevel was high. In all cases thyroid ultrasound showed a normal located thyroid gland. In the\r\ngroup of patients with TSH level above 11 microUI/mL, two had congenital heart disease, but\r\nnone of them had gastrointestinal disease.\r\nHyperthyroidism was not observed in any of the cases.\r\nConclusions. Children with DS have high prevalence of thyroid dysfunction and\r\nbiochemical screening of this is essential. Subtle thyroid abnormalities were the most common\r\nfinding in DS.

Background. ThyPRO is a recently developed thyroid-specific quality of life (QoL) questionnaire applicable to patients with benign thyroid disorders(BTD). The aim of the present study was to translate ThyPRO and ThyPRO-39 into Romanian, and to evaluate reliability and cross-cultural validity. Methods. Standard methodology for translation and linguistic validation of patient-reported outcomes (PRO) was applied. The questionnaire was completed by 130 patients with benign thyroid diseases seen at Department of Endocrinology in the Emergency County Hospital, Tîrgu Mureș, Romania, between October 2015 and March 2016. Internal reliability of the Romanian version of the ThyPRO (ThyPROro) scales was assessed for multi-item scales using Cronbach’s alpha coefficient. An efficient method for testing cross-cultural validity is analysis of differential item functioning (DIF). Uniform DIF between the Romanian and the original Danish sample was investigated using ordinal logistic regression. The translation process proceeded without difficulties, and any disagreements were revised by one of the developers and the language coordinator. Results. Internal reliability for ThyPRO was satisfactory. Cronbach`s alpha coefficients for the 13 scales ranged from 0.78 to 0.93 for the ThyPROro and 0.78 to 0.87 for the ThyPROro-39. In the 85-item ThyPRO, nine instances of DIF were found. Most were minor, explaining <3% of the variation in scale score, but DIF in positively worded items were larger, with explained variance (R2’s) around 10-15%. Conclusion. The ThyPROro questionnaire is ready for assessment of health-related quality of life in Romanian patients with benign thyroid diseases.

Context. Several studies have addressed the impact of sarcopenia on various health outcomes. As the most critical issue is the early identification of individuals, a short screening tool may help clinicians to simply test for sarcopenia and start early management of the disease. Recently, a simple questionnaire, Sarc-F was provided that may adequately realize this aim. Subjects and Methods. To validate the questionnaire we translated the original Sarc-F according to the recommended methodology. A total of 80 people, aged 65+ were evaluated for sarcopenia. Muscle mass, strength, and physical performance were measured. Volunteers completed the Sarc-F as well as other two questionnaires. Discriminative power, reliability, construct validity analyses, specificity, sensitivity, negative and positive predictive value evaluations were made. Results. A good discriminative power and internal consistency were found. With the functional sarcopenia diagnostic criteria the test demonstrates a high specificity (84%). The positive and negative predictive values were: 78% and 77%. Using the more conservative diagnostic criteria the negative predictive value was: 85.4%, sufficient to rule out those not at risk of having sarcopenia and eliminate the need for further investigations. Conclusions. A valid Romanian Sarc-F questionnaire is now available to simply detect patients at risk/no risk of sarcopenia.

Context. Permanent hypocalcemia is a rare but significant complication of thyroid surgery Objective. The aim of this study was to identify predictive factors of hypocalcemia and hypoparathyroidism after thyroidectomy . Design. Study included 134 total patients submitted to thyroidectomy from two endocrine units (January 2015 – August 2016). Methods. We measured total serum calcium (sCa) and intact PTH (iPTH) on postoperative day one and 1 month after surgery. Results. 118 patients were women with F/M ratio of 7.3/1 and a mean age of 51.8 years. 64 patients were included in group A (iPTH <12 pg/mL) and 70 patients in group B (iPTH >12 pg/mL). sCa and hypocalcemia symptoms were correlated with iPTH, measured 24 hours after surgery. The cut-off value was for sCa 8.05 mg/dL with a sensitivity of 85.29% and a specificity of 88.0% and for iPTH 11.2 pg/mL, with a sensitivity of 82.3% and a specificity of 71.0%. SCa (< 8.05 mg/dL) was a predictive factor with a 99 (IC95%:12.86- 761.58) and iPTH (<11.2 pg/mL) with a 10.77 higher risk (CI95%: 3.83-30.30) to be associated with symptoms. Conclusion. SCa and iPTH represent good predictive factors of early and safe hospital discharge and can predict the risk of prolonged and permanent hypoparathyroidism.

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.

The nuclear receptor coding PPARγ2 (PEROXISOME PROLIFERATORACTIVATED RECEPTOR-GAMMA; *601487) gene influences the lipid and carbohydrate metabolism via multiple pathways and is a candidate for the metabolic syndrome. In this paper we studied the relationship of the CCG (Pro) → GCG (Ala) polymorphism of the gene with the metabolic syndrome diagnosed according to the criteria recommended by the International Diabetes Federation (IDF) in 2005, in a population from central Romania. We have carried out a case-control study on 144 patients and 73 control subjects. Routine biochemical assays have been carried out, fasting insulinemia was measured by ELISA, and insulin sensitivity was assessed by calculating the HOMA and QUICKI indices. Genetic analysis was done by PCR followed by digestion with the restriction enzyme BstU I. The results show that the Pro12 allele had a higher frequency in the group of patients as compared to the healthy controls (76 vs. 65.7%, p<0.05). The risk for developing the metabolic syndrome in the presence of the Pro12 allele in a homozygous combination was found to be low but statistically significant (PP vs. PA + AA: OR = 1.98, CI 95% 1.04 -3.78, p = 0.046). In conclusion, in the local population, the Pro12 allele of the PPARG2 gene seems to contribute to the hereditary predisposition of the metabolic syndrome diagnosed according to the recommendations of the IDF, most likely as part of a polygenic system. Probably the absence of the protective Ala12 allele increases the risk for developing the disease.

Intracranial germ cell tumors (GCT) are rare brain tumors that typically arise in the pineal or suprasellar regions. Germinomas are highly radiosensitive among pediatric CNS tumors. Suprasellar GCTs most commonly present with hypothalamic/ pituitary dysfunctions. We report a case of an 18 year old boy with particularly long term evolution from the onset of symptoms to the positive diagnosis of suprasellar germinoma. At 9 years he was diagnosed with idiopathic central diabetes insipidus and started DDAVP therapy. In the subsequent years he presented delay in longitudinal growth and delayed pubertal development. At 16 years he was referred to our institute with relatively good general condition despite an extremely severe hypernatremia of 186 mEq/L, serum osmolality of 405 mOsm/kg and impaired thirst sensation. He developed sinus thrombosis as a consequence of hyperosmolality and presented intermittent rises of temperature, but no septic episodes. During a long term follow neuroimaging eventually revealed a thickening of the pituitary stalk, mimicking as an infiltrative lesion. Finally, two supracentimetric tumor nodules were shown on contrast enhanced MRI in the suprasellar region and at the floor of the left lateral ventricle. Stereotactic biopsy concluded a pure germinoma, and craniospinal irradiation was performed. At present he has an infracentimetric suprasellar tumor remnant, reperfused sinus veins, optochiasmatic syndrome sequelae. He benefits from L-Thyroxin and testosterone replacement, and maintains hydro-electrolytic balance on DDAVP and controlled oral fluid intake.

Objective. To compare results of treatment of primary hyperparathyroidism (PHPT) in two teaching hospitals (eastern and western Europe) and to establish conclusions regarding quality of surgery for PHPT in Romania. Methods. We reviewed two prospectively collected databases of patients submitted to open minimally invasive parathyroidectomy (OMIP) for symptomatic PHPT in two centers from Romania and the United Kingdom (UK). We included patients with biochemically proven PHPT and positive pre-operative localization studies. We excluded patients with negative localization studies, suspected multiglandular disease, concomitant thyroid disorders and chronic renal failure. Results. 60 patients were included, 27 in group A (Romanian cohort) and 33 in group B (UK cohort). We noted significant differences between groups in pre-operative serum calcium and phosphorus levels (p<0.5). There were no differences between groups regarding the presence of symptoms; in group A we had significantly more patients with renal calculi history (p=0.02), digestive symptoms (p=0.006) and osteitis fibrosa cystica (p=0.01). Two patients from the UK group had lithium associated hyperparathyroidism and 2 patients had genetic disease. Intraoperative parathyroid hormone measurement (ioPTH) was available only for group B and frozen sections were selectively used in both groups. Both the adenoma size and weights were significantly higher in group A. The median operative time was significantly longer in Romanian group (p=0.001); in this group we noted the single conversion to traditional cervicotomy (3.7%) from all studied patients. In group A we noted two patients (7.4%) with failed parathyroidectomy and persistent PHPT; the cure rate was 92.5% for Romanian group and 97% for the UK group. Conclusions. OMIP can be performed safe with a high cure rate in “small” volume endocrine centres with results comparable to western experienced endocrine centres. Romanian patients presented with more severe PHPT with more frequent end-organ damage, due probably to late diagnosis.

There are no new national growth references for the Romanian population and the current recommendations for short stature evaluation is the use of the Swiss growth charts developed based on a longitudinal study. The aim of the present paper is to present the new synthetic growth references for Romanian children. Material and methods. We used local Romanian data from 9 studies with information on height and weight obtained between 1999 and 2016. Based on their plausibility and methodology six studies were selected for generating the National Synthetic Growth References for Romanian Children based on the specific methodology described previously. The selected studies included 8407 subjects measured in schools/kindergartens. Age is reported in years covering a range from 3-18 years. Height and weight were measured at a precision of 0.1 cm and 0.1 kg. All children were measured at normal temperature, in light clothes, without footwear. Results. We present the charts and tables with the common centiles for height, weight and body mass index for boys and girls. Conclusion. We suggest synthetic growth references based upon recent growth data from 6 different Romanian regions as new National Growth Charts for Romanian children.