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Obese men may present hypogonadothrofic hypogonadism, mainly related to higher insulinemia and aromatase activity. Our objectives were to evaluate the relationship of sex-hormones profiles and frequency of depressive symptoms in 43 obese men, in a cross-sectional study. They had 19–60 years, and body mass index 30–50 kg/m2. LH, total and free testosterone (TT and FT), estradiol (E2), sex hormone binding globulin, estradiol/total testosterone ratio (E2/T) were analyzed. Depressive symptoms were evaluated by “beck depression inventory” (BDI), and significant depression was considered if BDI ≥ 16.Thirty-four (80%) presented low TT levels, but only 4 (14%) had low free testosterone and hypogonadism symptoms; 12 of 43 (28%) presented increased E2. Forty five (56%) presented depressive symptoms, but 16 (28% of the 45) had significant depression. BDI correlated positively with E2(r = 0.407;p = 0.001) and E2/T (r = 0.473;p = 0.001), but not TT or FT. Patients with significant depressive showed higher levels of estradiol (136 ± 48 versus 103 ± 48 pg/ml,p = 0.02) andE2/T(16.0 ± 9.9 versus 9.8 ± 4.6;p = 0.002) (mean ± SD).In conclusion, obese men may present relatively excess of estradiol and deficiency in testosterone, leading to an imbalance between these two hormones. The greater this imbalance, the more depressive symptoms had our patients. [ABSTRACT FROM PUBLISHER]

Individuals with Turner syndrome (TS) have increased risk for autoimmune diseases, especially thyroid abnormalities. The function of the vitamin D receptor ( VDR) gene is influenced by several genetic polymorphisms which are associated with a susceptibility to a range of autoimmune diseases. Thus, we have hypothesized a possible relationship between thyroid abnormalities and VDR polymorphisms ( ApaI/G1025-49T, TaqI/T1056C, FokI/T2C and BsmI G1024 ++ 283A) in TS patients. A case-control study was performed comprising 101 Brazilian women with TS and a control group consisting of 133 healthy fertile women without a history of autoimmune diseases. In TS group, 21.8% had Hashimoto's thyroiditis. Detection of VDR polymorphisms was performed using TaqMan system by real-time PCR. The χ2 was used to compare allele and genotype frequencies between groups. Combined genotypes of VDR gene polymorphisms were assessed by the haplotype analysis. A p value <0.05 was considered statistically significant. Relatively similar VDR polymorphisms genotype and allelic frequencies in cases and controls were found, even when only considering the patients with thyroid abnormalities. Haplotype analysis showed that none of the VDR haplotypes were associated to thyroid diseases in TS patients. In conclusion, the results showed no association between VDR gene polymorphisms and thyroid abnormalities in Brazilian TS patients tested. [ABSTRACT FROM AUTHOR]

Abstract: Our aim was to check for calcium channel maturation and regulation on newborn rats during breastfeeding by mothers treated with the L-type calcium channel blocker nifedipine. Contractions by KCl and radioligand binding techniques were used to verify if Ca2+ channels are modified in rat vas deferens of 40-day old litters that were breastfed by mothers injected daily with nifedipine during nursery. Injections were applied in the beginning (1st until 8th day), middle (9th until 16th day), or end (17th until 24th day) of nursery, to verify the period of highest susceptibility of newborn to nifedipine receptor regulation. Contractile responses revealed that only after the middle period of treatment of mothers the maximal effects (E max) induced in pups by KCl were increased by about 35%, without changes of apparent affinity (pD2). Additionally, binding studies with [3H] Isradipine in cell membrane preparations showed a greater density (B max) of Ca2+ channels by about 55%, without changes of affinity (K d). Changes were not detected after treatment of mothers in the beginning or end of breastfeeding. In addition, in vas deferens of 60-day old litters, the E max returned to control values, showing that changes were not persistent. Moreover, body and vas deferens weights and blood testosterone of newborn were never changed. The histology of mammary gland was similar for treated and control mothers, suggesting a stable milk production. It is concluded that nifedipine treatment of mothers, if made during the 9th to 16th day of lactation, produced a short lasting reversible up-regulation of L-type Ca2+ channels. [Copyright &y& Elsevier]

Aims: To determine the frequency of C677T and A1298C polymorphisms of the MTHFR gene and correlate them with homocysteine serum levels in patients with Turner syndrome (TS) and controls., Methods: This case-control study included 78 women with TS and a control group of 372 healthy individuals without personal or family history of cardiovascular disease and cancer. C677T (rs1801133) and A1298C (rs1801131) polymorphisms were detected by polymerase chain reaction-restriction fragment-length polymorphism and the TaqMan system, respectively. Homocysteine serum levels were determined by high-performance liquid chromatography. The results were analyzed statistically, and p<0.05 was considered to represent a significant difference., Results: The homocysteine levels change was 13.9+3.3 nM in patients with TS and 8.8+3.2 nM in the control group. No significant difference between groups was found (p=0.348). Single-marker analysis revealed no association between MTHFR C677T polymorphism and TS when genotype (p=0.063) or allelic (p=0.277) distribution was considered. Regarding MTHFR A1298C polymorphism, a statistical difference was found between the TS group and the control group, for both genotype (p<0.0001) and allele (p<0.0001) distribution. Haplotype analysis of 2 MTHFR polymorphisms identified 2 haplotypes-CC and TC-associated with TS (p<0.001 and p=0.0165, respectively). However, homocysteine levels were not higher in patients with haplotype risk., Conclusion: The results suggest that the C677T and A1298C polymorphisms of the MTHFR gene are not related to homocysteine levels in Brazilian patients with TS, despite the differential distribution of the mutated allele C (A1298C) in these patients. Further studies are needed to investigate the possible genetic interaction with homocysteine levels in TS.

To show that in the dysgenetic gonads of 104 Turner syndrome patients no significant difference was found regarding the expression of the genes DAX1, FOG2, GATA4, OCT4, SF1, SRY, TSPY, WT1, and STRA8 compared with controls, except for genes OCT4, SRY, and TSPY in both gonads of a patient whose chromosomal constitution was 45,X/45,X,add(15)(p11). The expression analysis of genes OCT4, SRY, and TSPY in the dysgenetic gonads of Turner syndrome patients may allow introducing modifications in the microenvironment that could contributed to a malignant transformation process., (Copyright © 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)

Background: Paucity of data on childhood obesity and cardiovascular risk in Brazil., Objective: To determine the prevalence of hypertension, dyslipidemia, obesity and their correlations in a sample of school children in Itapetininga, State of Sao Paulo, Brazil., Methods: Cross-sectional study with systematic collection of anthropometric data (weight, height, waist circumference, BMI and blood pressure levels) and determination of glucose, total cholesterol, LDL, HDL, uric acid, and apolipoproteins A and B in a random sample representative of school children from the public education system in Itapetininga, State of Sao Paulo. For data analysis, we used population parameters from the NCHS curves (2000), blood pressure categories from NHBPEP (2004), and the serum cholesterol levels proposed by the AHA for children and adolescents (2003)., Results: A total of 494 children and adolescents participated in the study. Of these, 11.7% had HBP, 51% increased total cholesterol, 40.5% increased LDL-cholesterol, 8.5% increased triglycerides, and 6.1% low HDL-cholesterol levels. Mean (+/- standard deviation) TC, HDL-cholesterol, LDL-cholesterol and triglycerides were 172.1(27.9), 48.1(10.0), 105.7(23.1) and 90.9(43.8), respectively. Obesity and overweight were detected in 12.8% and 9.7% of the sample, respectively. Individuals of the obese group had a greater chance of presenting with dyslipidemia and hypertension in comparison with those of the other groups., Conclusion: This study supports the hypothesis of different prevalences of excess weight among school children from the public education system of the northeastern and southeastern regions of Brazil, with higher rates in the latter. Additionally, it demonstrates an association of obesity with dyslipidemia and hypertension in that group. In light of the paucity of Brazilian data on this issue, our study provides important data for further comparisons.

Designing a Health Care Service Waste Management Plan, according to the RDC 306 rules, is a responsibility of all those who produce such waste. Since radioimmunoassay (RIA) is one of the most employed techniques, we studied the impact of replacing this technique by liquid chromatography (HPLC) with regard to the reduction of the radioactive residues routinely produced by the Unifesp steroid laboratory. The residues produced by the determination of serum cortisol and 17 alpha-hydroxyprogesterone were classified, and those belonging to groups B and C were evaluated. We observed that, when RIA is used, chemical residues (group B) and radioactive waste (group C) are produced, whereas HPLC generates only chemical residues. Adequation of these techniques showed to be advantageous, by significantly reducing the time of analysis and mainly by eliminating and/or reducing the generation of radioactive waste, encouraging its application to other methodologies, as well as its adoption by other research units.

Objective: To determine the clinical implications of the presence of a Y chromosome in Turner's syndrome patients with karyotype abnormalities., Design: To investigate the presence of Y-chromosome sequences in different tissue samples., Setting: Endocrinology outpatient clinic of a federal university in Brazil., Patient(s): Five Turner's syndrome patients with karyotype abnormalities such as marker chromosomes, additional material, or ring chromosomes., Intervention(s): Peripheral blood, oral epithelial cells, and hair root samples were collected., Main Outcome Measure(s): The SRY gene and the DYZ3 repeat region were amplified by polymerase chain reaction followed by gel electrophoresis mobility of amplified genomic DNA, and ultraviolet visualization. Prophylactic gonadectomy was offered to the Y-positive patients., Result(s): The analysis of the different tissues revealed that three of the five patients studied presented Y-chromosome mosaicism. These three patients underwent prophylactic gonadectomy, and in one of them, the histopathologic study of the gonads disclosed hilus cell hyperplasia and stromal luteoma with contralateral nodular hyperthecosis., Conclusion(s): A systematic search for Y-chromosome mosaicism in Turner's syndrome patients is justified by the risk of developing gonadal tumors or androgen-producing lesions.

Short stature is the major characteristic of Turner syndrome. The statural appeal is premature and become evident in the puberty. Haploinsufficiency of SHOX gene has been related as main factor on final height of these patients. Despite the majority of the patients are not growth hormone deficient, the GHr therapy improves the final height. Recently, a great number of publications have described the association between GH and cancer. The cancer risk, in these patients, is mainly associated with the presence of Y chromosome sequences that can lead to the gonadoblastoma development. In conclusion, the GHr therapy in ST patients deserves caution. The investigation of Y chromosome sequences should be performed as well as the prophylactic gonadectomy in the positive cases conferring confidence to the treatment.

Precocious thelarche is the breast development before 8 years of age with two peaks of incidence during the first two years of life and after 6 years of age. A 4.75-year-old girl presented with thelarche associated to an excessive intake of phytoestrogens (phye). Tanner development B2P1-2, hormonal levels and pelvic US were compatible with peripheral precocious puberty. During follow-up, a daily intake of soy-based foods was observed (> 40 mg phye/day). Soy is rich in phytoestrogens, mainly genistein and daidzein. Although phye are less strong than estradiol, its concentration could be from 13,000 to 22,000 times stronger in children fed only by soy-based formulas. Parents were advised and soy intake was reduced to once a week. Progression of pubertal development ceased at B2-3P1. The patient, now 8.66 years old, keeps growing with similar bone and chronological ages. Some questions related to industrial food security, mainly the soy-based food, remain without precise answer. Although it is well known the entity of non-progressive precocious puberty and premature thelarche, pubertal development in this case was strongly related to excessive daily intake of soy and other phye-rich food that could trigger puberty as endocrine disruptor.

We report on a girl who, despite her 45,X/46,X,der(Y) karyotype, showed no signs of virilization or physical signs of the Ullrich-Turner syndrome (UTS), except for a reduced growth rate. After prophylactic gonadectomy due to the risk of developing gonadoblastoma, the gonads and peripheral blood samples were analyzed by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) to detect Y-specific sequences. These analyses allowed us to characterize the Y-derived chromosome as being an isodicentric Yp chromosome (idic(Yp)) and showed a pronounced difference in the distribution of the 45,X/46,X,idic(Yp) mosaicism between the two analyzed tissues. It was shown that, although in peripheral blood almost all cells (97.5%) belonged to the idic(Yp) line with a duplicated SRY gene, this did not determine any degree of male sexual differentiation in the patient, as in the gonads the predominant cell line was 45,X (60%).

Gonadal dysgenesis comprises a clinical spectrum of anomalies in patients with female, ambiguous or male phenotype, absent or impaired puberty and karyotype with or without Y chromosome and/or chromosome markers. Although Y-specific sequences are seldom cytogenetically evident, dysgenetic gonads are potentially prone to developing tumors. Gonadoblastoma, a mixed germ cell and sex-cord cells tumor with variable degree of focal calcification, is the most harmful due to its frequency. Other gonadal tumor, malign or not, also occur in gonadal dysgenesis. As they are not metastatic tumors and may be eradicated by selective excisions, the importance of detecting Y-sequences by molecular sensitized techniques is stressed in order to indicate prophylactic gonadectomy.

Captive adult male jaguars (Panthera onca) from two locations in southeast Brazil were studied to evaluate the effects of season on endocrine and testicular function. For assessment of testicular steroidogenic activity, androgen metabolite concentrations were measured in fecal samples collected one to three times per week over 14 ( n=14 ), 9 ( n=1 ) or 7 months ( n=1 ). To assess seasonality, data were grouped by season (summer: December-February; autumn: March-May; winter: June-August; spring: September-November). Additionally, samples collected in the dry season (March-August) were compared with those collected in the wet season (September-February). There were no differences ( P>0.05 ) in fecal androgen concentrations in samples collected in spring, summer, autumn, and winter ( 480.8+/-50.4 ng/g, 486.4+/-42.0 ng/g, 335.4+/-37.7 ng/g, and 418.6+/-40.4 ng/g dry feces). However, there were differences ( P<0.05 ) in fecal androgen concentrations between the dry and wet seasons ( 380.5+/-28.0 ng/g versus 483.9+/-32.3 ng/g dry feces). Sperm samples, collected from all males twice (approximately 6 months apart) were similar; mean (+/-S.E.M.) motility, concentration and morphology were 57.0 %4.5%, 6.3+/-2.4 x 10(6) ml(-1), and 60.8+/-3.1 %, respectively. In conclusion, androgen metabolite concentrations in the captive male jaguar were not affected by season, but there was a difference between the wet and dry periods. Further research is needed to verify these results.

21-Hydroxylase deficiency (21-OHD) is the most common form of congenital adrenal hyperplasia (CAH), followed by 11beta-hydroxylase deficiency (11beta-OHD). Diagnostic serum markers for these conditions are 17-hydroxyprogesterone (17-OHP) and 11-desoxycortisol (S), respectively. In 21-OHD, the large amounts of 17-OHP are further 11beta-hydroxylated to form 21-deoxycortisol (21-DF), making it also an excellent marker of this disease. These steroids can be measured in blood by radioimmunoassay (RIA). In this paper, we report the use of high-performance liquid chromatography (HPLC) for steroid purification, prior to RIA determinations of 21-DF, S, 17-OHP, and testosterone (T) in ether-extracted serum. The chromatographic separation is developed in a BDS-Hypersil column using water-methanol (53:47, v/v) as the mobile phase. The method is applied to 35 patients with the classic form of 21-OHD (18 females, 17 males, 5.1-14.2 years old) and 2 with 11beta-OHD (1 female, 1 male, 9.5 and 12.6 years old). Thirteen control children (5 females and 8 males, 5.2-15.2 years) are also studied. The results obtained for all measured steroids are compatible with those reported in the literature. The method is precise, and recovery is adequate. The HPLC technique proved to be of value for the purification of several steroids from single serum samples prior to RIA in patients with CAH.