ACTA ENDOCRINOLOGICA (BUC)

Context. Thyrotoxicosis is an important cause of secondary osteoporosis, but the extent of bone loss and its\r\nreversibility with therapy have not been clearly determined yet.\r\nObjective. We assessed the impact of thyrotoxicosis on bone mineral density (BMD) and the recovery of bone loss with\r\ntherapy. We also tested, in this context, the hypothesis that low TSH levels, even within reference range, increase fracture risk.\r\nDesign, Subjects and Methods. In this retrospective study we compared 78 women with thyrotoxicosis and osteopenia /\r\nosteoporosis (TX ? study group), with 82 age matched, euthyroid women with primary osteopenia /osteoporosis (C-control group). All patients had a baseline and at least one follow-up assessment of lumbar spine BMD by dual-emission X-ray absorptiometry (DXA) and thyroid function (thyrotropin ? TSH and free thyroxine ? fT4, measured by electrochemiluminescence immunoassay).\r\nResults. Mean BMD and T scores were similar at baseline (0.764 g/cm2, -2.50 SD in the TX group 0.747 g/cm2, -2.59 SD\r\nin C group); 17 thyrotoxic patients and 17 patients with primary osteoporosis had previous fractures. Both groups showed a significant BMD increase with therapy, over a similar period of time (TX ? mean 10.38 months; C ? 10.74 months). BMD gain was significantly higher in the study\r\ngroup (p = 0.04). In hyperthyroid patients, the best predictor for bone density increase was the TSH raise, while in controls the main determinant was treatment duration.\r\nConclusions. In comparison to primary osteoporosis, bone loss recovery rate with appropriate therapy is higher in\r\nthyrotoxicosis, confirming its contribution to the pathogenesis of osteoporosis.

Abstract Introduction. Turner syndrome, a genetic disorder with an exclusively feminine phenotype, is caused by complete or partial X monosomy in some or all cells. Although the condition is usually diagnosed after birth, now, it is possible to detect the syndrome prenatally. Case reports. We present two cases of Turner syndrome diagnosed during the first trimester of pregnancy. The condition was suspected because of several ultrasound signs and was confirmed in both cases after an invasive prenatal technique. In one case, the fluorescent in situ hybridization technique was applied. In the other case, the chromosomal anomaly was detected using the G banding technique. Threedimensional ultrasound and HDlive technology were extremely useful in helping the patients to better understand the fetal pathology and accept an invasive procedure as a final step in establishing the diagnosis. Conclusion. These cases demonstrate the importance of using ultrasound as a screening method to detect suspected cases of Turner syndrome, however, the disorder needs to be confirmed with chromosomal analysis after performing an invasive prenatal technique.

Background. Clomiphene citrate (CC) is a safe and widely available first-line ovulation induction drug in women with polycystic ovary syndrome (PCOS). Obesity may trigger the syndrome development in the presence of genetic predisposition or independent causal factor by inducing low insulin sensitivity. Objectives. The aim of this study was to compare the serum AMH levels in obese women with PCOS and obese women with ovulatory cycles, and to assess the role of AMH as a predictor of ovulation induction in obese patients with PCOS by CC as compared to follicle-stimulating hormone (FSH). Subjects and methods. Fifty-six obese infertile women with PCOS with a BMI greater than 30kg/m2 were compared with a control group of 30 obese women with normal ovulation. After ovulation induction treatment with CC, the PCOS group was further subdivided in responders and nonresponders. AMH level was assessed as an ovulation induction predictor using area under the curve (AUC) analysis, logistic regression and statistical correlation. Results. Serum AMH level was significantly higher in women with PCOS than in the controls. There were no significant differences in age, duration of infertility, weight, height, LH, and FSH, but significant differences in AMH level (p < 0.01), endometrial thickness (p < 0.01) and progesterone level (p < 0.01) between the patients responding and non-responding to treatment. Endometrial thickness (AUC = 0.932) and progesterone level (AUC = 0.732) were of predictive value for treatment response. A cut-off level of 1.92 ng/mL for AMH showed a good discriminative power for the positive response to treatment (AUC value = 0.819, p< 0.0001). Conclusion. AMH measurement could be useful in predicting ovarian response to clomiphene citrate therapy in obese anovulatory women with PCOS.

Context. Despite CT being generally used in thymic pathology, in the case of regions with the same tissue density, only functional radioisotopic imaging can hint towards malignity. Objectives. To assess the usefulness of 99mTc MIBI scintigraphy for diagnosis and treatment planning in thymoma, in relation with the radiotracer uptake mechanism. Patients and methods. 99mTc MIBI thymic scans for 19 patients diagnosed with thymic disorders were assessed using tumor uptake ratio (UR). Specimens of thymectomies were examined and cytological assessments were correlated with the UR. Results. The UR of all surgical patients was higher than 1.2, with a 1.5 cutoff between lymphoid hyperplasia and thymoma. The UR values were correlated with the histopathologic diagnosis (Pearson correlation 0.91, significant at p<0.01). The highest UR was 3.24, found in the case of an AB thymoma where the rate lymphocytes/ epithelial cells (L/E) was 1.6. In B1 thymoma UR was 1.14 and L/E was 2.46. Conclusion. Phenotype differences between thymoma types correlate with 99mTc MIBI cellular uptake: lower rate L/E corresponds to higher UR, higher malignity potential and invasiveness. A thymic 99mTc MIBI UR higher than 1.5, corresponding to a CT tumoral image, is suggestive for a thymoma, requiring surgical treatment first.

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.

Objectives. The objective of this study was to assess the impact of endometriosis on the quality of life. Patients and methods. Study group of 205 women, aged between 18-45 years old, hospitalized in the “Cuza-Voda” Hospital of Iasi, between 2013-2015. We used the Fertility Problem Inventory, the Endometriosis Health Profile and the Beck Depression Inventory. Results. We first realized a descriptive analyses of patients’ health related quality of life - 60% of women reported higher infertility distress associated with relationship issues caused by difficulties to conceive. The descriptive analysis over the quality of life in patients with endometriosis suggests that the high level of stress related factors, are: the loss over the control of the symptoms, dyspareunia and altered emotional status. Regarding the sexual aspect of life, almost a quarter of the women complained about an altered sexual status, due to both fear of failing in conceiving and dyspareunia caused by the endometriosis. The descriptive analysis over the infertility related stress suggests that the factors associated with a high level of stress are: sadness, pessimism, feeling of failure, irritability, lack of confidence, self-hatred and fatigue. Conclusions. Patients with endometriosis are dealing daily with a large spectrum of symptoms, including pain, dyspareunia, emotional instability and high levels of stress, which have a negative impact upon the quality of life, by lowering it on different levels. Also, within the present study we showed a significant presence of high infertility stress in patients of all ages that lead to depression and social anxiety.

-

Purpose. To correlate the volume of parathyroid adenomas with the hormonal and metabolic profile at patients diagnosed with primary hyperparathyroidism (pHPTH). Patients and Methods. Cross-sectional multicentric study, enrolling 52 patients with pHPTH from two medical institutions. Serum calcium and PTH were evaluated in all patients before surgery, whereas 25OHD3 was measured only in the 33 patients recruited form one medical unit. The volume of parathyroid adenoma was measured by using the formula of a rotating ellipsoid. Results. We observed a significant correlation of the volume of parathyroid adenomas with PTH at patients from the two units and in the whole group (p < 0.0001), but not with serum calcium (p = 0.494). Twenty-five out of the 33 patients at whom 25OHD3 was measured had levels in the range of deficiency. 25OHD3 was not correlated with PTH or calcium levels, but was negatively correlated to the adenoma volume and positively to the PTH/volume ratio (p = 0.041 and p = 0.048, respectively). Conclusions. The volume of parathyroid adenoma seems to be related to preoperative PTH and 25OHD3, but not to calcium level. Vitamin D deficiency is frequently found at patients with pHPTH and may contribute to particular disease profiles, including larger parathyroid adenomas.

Prader Willi syndrome is a complex disease caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11.2-q13. Typical clinical features are hypotonia and feeding difficulties in infancy, followed by hyperphagia and progressive obesity, distinctive dysmorphic features, intellectual disability and behavioural problems. In this paper we present clinical, metabolic and endocrine aspects in five genetically confirmed patients with PWS. Data about thyroid dysfunction, GH deficiency, adrenal insufficiency, and LH/FSH disorder caused by hypothalamic dysfunction in PWS were collected and analyzed. Cardiovascular metabolic profile was also assessed, based on plasma lipids, blood glucose, HbA1c values, and measurements of body weight and blood pressure. Clinical features present in all our patients were marked hypotonia and feeding difficulties in infancy, obesity, dysmorphic face, viscous saliva, small hands and feet, intellectual disability and characteristic behaviour. Adrenal function appeared to be normal in all patients; mild hypothyroidism was identified in one patient; sex development abnormalities were present in three patients and GH levels were within lower normal range in all patients. GH therapy was initiated in two patients, both with unevolutive skeletal anomalies, with good results and no side-effects. Only one patient had a normal lipid profile, underlying the importance of early detection and treatment of cardiovascular risk factors. Our study also illustrates the challenges raised by some features very rarely described in PWS (Blount disease and multiple allergies).