ACTA ENDOCRINOLOGICA (BUC)

Objectives. The purpose of this study was to evaluate the association between the follicle-stimulating hormone (FSH) receptor (c.-29G>A) and FSH beta chain (c.- 280G>T) polymorphisms and endometriosis in Romanian women. Material and methods. We performed the polymorphic analysis of the FSH receptor gene and FSH beta chain in 44 patients with endometriosis and 34 controls. Genomic DNA was obtained from peripheral blood and polymorphisms were investigated using restriction fragment length polymorphism analysis (RFLP). Results. There were no significant differences in genotype frequencies of FSH receptor gene between endometriosis patients and controls. For the heterozygous type of the FSH receptor polymorphism (c.-29G>A) we did not find a significant difference in its frequency between patients with minimal/mild and moderate/severe endometriosis (p = 0.136). Also, the FSH beta chain (c.- 280G> T) polymorphism frequency was not significantly associated with the severity of endometriosis (p = 0.966). Conclusions. FSH receptor and FSH beta chain polymorphisms do not seem to influence the severity of endometriosis, but they could be correlated with female infertility (primary or secondary), therefore further studies are required to debate this topic.

Introduction: The necessity to determine the levels of pituitary hormones in the cerebrospinal fluid is motivated both by difficulties in the diagnosis of different neuroendocrine disorders, as well as by research purposes such as understanding the transport mechanisms of hormones through the blood brain barrier.\r\nObjective: The aim of this study was to compare the results obtained with different immunometric methods for some pituitary hormones in the serum and CSF in patients with neuroendocrine tumors.\r\nMaterials and methods: The levels of LH, FSH, PRL and TSH were determined simultaneously in the serum and CSF with 3 different immunometric methods using commercial kits: IRMA, FIA and Chemiluminescence for 36 patients. The validation of IRMA method on CSF samples was performed using the dilution test.\r\nResults: The dilution test - as one of validation criteria of an immunoassay - proved that the results obtained in the CSF using the commercially available kits were correct. This enables the use of this sensitive method to accurately demonstrate abnormal levels of pituitary hormones beyond the blood-brain barrier. The correlation between IRMA and FIA: Hormonal concentrations values obtained by IRMA correlate well with those measured by FIA for serum with no significant differences of the mean concentration value for FSH (r=0.93, p: NS) and LH (r=0.99, p: NS), but with a significant difference for PRL (r=0.88, p=0.002). In CSF, mean concentrations values correlate well and we found no differences for TSH (r =0.97, p: NS) and LH (r = 0.94, p: NS), but significant differences for PRL (r= 0.98, p=0.001) and FSH (r=0.98, p=0.001). Statistically significant differences were also found for the CSF/serum ratio for PRL (p=0.08), FSH (p=0.001) and LH (p=0.001). The ratios CSF/serum are significantly higher with IRMA method than with FIA for all the hormones. Except for one patient for all the others we found the ratio CSF/serum less than 1 showing that the pathologic significance of this parameter is not modified due to the type of immunometric assay. A statistically significant difference (p<0.001) was found for mean FSH concentration in CSF with FIA and Chemiluminescent assays .\r\nConclusions: Any immunometric method currently used for the determination of hormones in the serum or plasma has to be validated accordingly in order to be used on CSF. For obtaining results that can be interpreted and compared it is preferred that the same immunometric method is used on both serum and CSF, inside one group of patients. The presence of a control group for the results determined with that method is strongly recommended.

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As the kits used in routine for assessment of human growth hormone (hGH) status in CSF are originally designed for the serum and plasma, the specifications and limitations imposed by some environmental factor are important to be known. The aim of study was to\r\ninvestigate the influence of different protein concentrations on an immunometric assay to design a suitable and reproducible method for hGH measurement in different matrices, particularly in CSF-like environment.\r\nMaterial and methods. Experiments were performed using an in-house protocol for the determination of hGH by Time Resolved Immunofluorometric method. Standard curves were prepared in different biological matrices (sheep, human or fetal calf serums and CSFlike matrix). The concentrations of albumin and gamma-globulins were the variable parameters. The gold standard was the standard curve in sheep serum.\r\nResults. Constantly high background signal values were obtained at different albumin concentrations, in the absence of IgG, indicating intense non-specific binding and a low sensitivity. This fact allows accurate hGH measurement at over 5-10 ng/ml. Using a reaction environment enriched in IgG with a standard albumin concentration, background signal decreases while increasing IgG concentration. The highest sensibility is obtained for 5 g/l and 2.5 g/l IgG environments, allowing the sample signal to be measured accurately at hGH concentrations of 0.2 ng/ml or 0.5 ng/ml respectivly. This is observed in all biological matrices used.\r\nConclusions. The variation of protein concentration influences hGH determination. A standard curve with high sensibility for low values and a reduction in the influences of the reaction environment by minimising non-specific binding were obtained by enriching the environment with IgG.

Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by mutations of 3-hydroxysterol &#8211;7reductase gene (DHCR7) which maps to 11q12-13 and was the first discovered defect in cholesterol biosynthesis resulting in a congenital dysmorphology syndrome. We present the case of a 46,XY newborn with ambiguous genitalia and multiple congenital anomalies (atrial septal defect, ventricular septal defect, syndactyly of the second and third toe, cleft palate, webbed neck, small fontanels, mesomelia, simian palmar crease, micrognathia, wide nasal bridge with anteverted nostrils, low set ears). Hormonal assessment performed at twelve days revealed a decreased testosterone level (0.03 ng/mL), a high estradiol level (448.8 pg/mL), normal LH (2.8UI/mL), DHEAS (86.61?g/dL), progesterone (1.34ng/mL) and 17 hydroxyprogesterone (1.08ng/mL) levels. Cholesterol was low (44mg/dL) confirming the diagnostic of Smith-Lemli-Opitz syndrome.

Context. Pancreatic neuroendocrine tumours (PanNETs) are rare pancreatic neoplasms. PanNETs can be treated by multimodal approach including surgery, locoregional and systemic therapy. Objective. The aim of the present study is to evaluate predictive factors of overall survival in patients with PanNETs surgically treated at a single center. Subjects and methods. The study group consisted of 120 patients with PanNETs who had undergone surgery at the Center of Digestive Diseases and Liver Transplantation of Fundeni Clinical Institute, Bucharest, Romania. Surgical resection of the primary tumor was performed in 110 patients. Results. Tumor size > 2 cm (p=0.048) (90% CI) lymph node involvement (p=0.048), ENET grade (p<0.001), distant metastases (p<0.001), Ki 67 index (<2%, 2-5%, 5-10%, 10-20%, >20%) (p<0.001) were identified as significant prognostic factors for OS on univariate analysis. Using multivariate Cox proportional regression model we found that distant metastases and Ki 67 index were independent risk factors for the survival outcome. Conclusions. Surgery with curative intent should be considered in all cases if clinically appropriate and technically feasible. High grade (Ki67 index ≥10%) tumours were associated with a 2- fold increase in risk of death as compared to those with a Ki67 <10%

We report the case of a 55-year-old-male with a large cell metastatic pancreatic neuroendocrine carcinoma treated for 14 months with lanreotide autogel having a stable disease (SD) and not responding to chemotherapy. The somatostatin analogues (SSA) were introduced after an episode of diarrhea and controlled the disease. Progression-free survival (PFS) as determined by Computerized Tomography (CT) scans was obtained for 14 months. After more than a year, the patient’s health state deteriorated along with progressive disease. The capecitabine-temozolomide regimen was challenged, but after three cycles, a rapid clinical decline was noted. Conclusion. This unexpected event (diarrhea) in the course of the disease could represent the beginning of carcinoid syndrome. While the lanreotide autogel helped the episode of diarrhea pass, it also helped gain control over the disease itself.

Context. Infertility affects more and more younger patients nowadays. Life-saving cancer treatments - chemotherapy and radiation therapy unfortunately damage oocytes and reduce the window of fertility in women. There were an estimated 14.1 million cases of cancer worldwide in 2012, of which 6.7 million were in women. Aim. We are reviewing fertility options and treatments for women fighting oncological diseases. It is important to promote that there is a possibility for these patients to know all they can do in order to preserve their fertility and our government should help all these young patients. The trend of delayed childbearing has increased worldwide duet o increased life costs, difficulty of finding a suitable partner and carier options, while the number of women facing a cancer diagnosis is rising. Material and methods. We describe a review regarding the impact of these treatments for the fertility of these patients. Results. Show that informed patients can better cope with their diagnostic and have a better prognosis. Conclusions. Improving survival rates and current data have created a new medical field oncofertility. The term was first introduced in 2015 and is being used all over clinics that treat young patients nowadays.

Background. The modifications of blood pressure and lipid metabolism, the decrease of heart contractility and the increase of systemic vascular resistance that accompany hypothyroidism are caused by the decreased action of thyroid hormones. Objective. The purpose of this study is to evaluate, using echocardiography, the changes of the heart functional parameters in patients with untreated thyroid dysfunctions. Pacients and Methods. Study group included 348 patients for an evaluation of cardiovascular and thyroid status. The control of the thyroid condition was conducted using measurements of the FT3, FT4 and TSH levels, echocardiographic measurements defining the parameters of the function of the left ventricle. Results. The study group was divided into subclinical hypothyroidism (SH, 75 cases), overt hypothyroidism (OH, 123 patients) and normal thyroid function (C, 150 patients). TSH values decreased (from 5.8±15 mUI/L to 2.28±0.63 mUI/L in SH and from 20.23±17.33 mUI/L to 4.24±0.24 mUI/L in OH) after one year of treatment while fT4 and fT3 increased. The parameters obtained revealed significant decreases of the E/A ratio in both groups with hypothyroidism. The isovolumetric relaxation time was significantly higher in SH and OH as compared to the control group (C: 112.50±35.45 msec, SH: 118.75±16.52 msec p<0.05, OH: 130±41.83 msec p<0.001). In addition, the tissue Doppler revealed significant decreases of the E’/A’ ratio, measured septally and laterally in the group with overt and subclinical hypothyroidism. Conclusion. In hypothyroidism the systolic and predominantly diastolic function of the left ventricle are impaired. These dysfunctions are reversible under L-T4 substitutive treatment.