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- ItemSomente MetadadadosAndrogen Receptor CAG Repeat Polymorphism Is Not Associated With Erectile Dysfunction Complaints, Gonadal Steroids, and Sleep Parameters: Data From a Population-Based Survey(Amer Soc Andrology, Inc, 2011-09-01) Andersen, Monica Levy [UNIFESP]; Guindalini, Camila [UNIFESP]; Santos-Silva, Rogerio [UNIFESP]; Bittencourt, Lia Rita Azeredo [UNIFESP]; Tufik, Sergio [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Erectile dysfunction (ED) can be affected by androgen levels, which exert their action through the androgen receptor (AR). Androgenic action has been demonstrated to inversely correlate with a polymorphic trinucleotide CAG repeat region in the AR gene. We conducted an epidemiologic study to determine the potential association between the CAG repeat polymorphism of the AR gene and ED complaints, gonadal steroids, and sleep parameters in a large population-based sample in São Paulo, Brazil. AR CAG repeat was genotyped in 79 men with ED complaints and in 340 controls. Sleep and hormonal profiles were measured in all men. There was no association between the AR CAG repeat polymorphism and ED complaints. Moreover, there was no significant correlation among free and total testosterone, estradiol, follicle-stimulating hormone, and luteinizing hormone levels, as well as sleep parameters with the CAG repeat length, when evaluating the population as a whole, as well as subdivided into ED and control groups independently. the results were not affected when the data were analyzed in quartiles, divided by the median of the sample, or after correction for population stratification. AR CAG repeat polymorphism is not associated with ED complaints, gonadal steroids, and sleep parameters in men from a population-based sample in Brazil.
- ItemSomente MetadadadosCosegregation of a novel mutation in the sixth transmembrane segment of the luteinizing/choriogonadotropin hormone receptor with two Brazilian siblings with severe testotoxicosis(Taylor & Francis Inc, 2017) Siviero-Miachon, Adriana Aparecida [UNIFESP]; Kizys, Marina Malta Letro [UNIFESP]; Ribeiro, Manuela M. [UNIFESP]; Garcia, Fabiola Esgrignoli [UNIFESP]; Spinola-Castro, Angela Maria [UNIFESP]; Silva, Magnus Regios Dias da Silva [UNIFESP]Purpose: Testotoxicosis is an autosomal dominant form of gonadotropin-independent precocious puberty caused by heterozygous constitutively activating mutations of the luteinizing hormone/choriogonadotropin receptor (LHCGR) gene. The aim of this study was to describe two Brazilian siblings with testotoxicosis, to confirm the molecular diagnosis, and to perform an in silico analysis of a novel mutation in the hot spot of the LHCGR gene. Materials and methods: Molecular analysis of the mutation on the LHCGR gene was performed by direct Sanger sequencing, followed by an in silico analysis using HOPE bioinformatics tool to predict a functional defect of the mutant. Results: Both patients presented with gonadotropin-independent precocious puberty before the age of four years. Genetic analysis revealed a novel non-maternally inherited p.Asp578Val mutation of the LHCGR gene. An in silico analysis showed that the p.Asp578Val mutation disturbed amino acid physicochemical features regarding its size, charge, and hydrophobicity value. Conclusions: Clinical and hormonal profile of the siblings here evaluated was not different while compared to those patients previously described. An in silico mutation analysis reinforced the causative role of recurrent activating mutations in the intracellular loop and transmembrane helices of the LHCGR. The segregation of this mutation with the offsprings' phenotype indicated that it is causative.
- ItemSomente MetadadadosEfeito do hormônio luteinizante (LH) adicionado ao estímulo ovariano no perfil lipídico do líquido folicular de mulheres em tratamento para infertilidade(Universidade Federal de São Paulo (UNIFESP), 2013-07-31) Costa, Livia do Vale Teixeira da [UNIFESP]; Fraietta, Renato Fraietta [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Objectives: Using Lipidomics approach to identify the follicular fluid lipid profile of women submitted to different ovarian stimulation protocols for in vitro fertilization treatments. Method: We conducted the study using 28 self-paired samples of follicular fluid from women who presented only tubal factor as a cause of female infertility. The patients were divided into (i) FSH group, consisting of 14 patients who received FSH hormone during controlled ovarian stimulation, and (ii) FSH + LH group, composed of the same 14 patients who have returned to the sector of Assisted Human Reproduction to receive a new stimulus, which corresponded to the addition of LH to the previous protocol. Lipidomics analysis was performed by MSE mass spectrometry. Possible lipids were identified by the software SimLipid 3.4. Results: Clinical data analysis showed that there are no statistically significant differences between groups. Lipids were identified in relation to their groups, so that in the FSH group we found wax monoesters, anthocyanidins and CoA fatty acyls, while in FSH + LH group we found sphingomyelin. Conclusion: Differences were found between the two groups concerning lipid profiles analyzed in follicular fluid. These findings contributed to deepen the understanding of the molecular mechanisms involved in the administration of different hormonal stimuli for patients undergoing treatments for infertility, and so to the establishment of the best protocol for each women considering the identification of potential biomarkers.
- ItemSomente MetadadadosModulation of estrous cycle and LH, FSH and melatonin levels by pinealectomy and sham-pinealectomy in female rats(Elsevier B.V., 2000-04-01) Dardes, Rita de Cássia de Maio [UNIFESP]; Baracat, Edmund Chada [UNIFESP]; Simoes, M. J.; Universidade Federal de São Paulo (UNIFESP)1. the pineal has been shown to have a role in controlling reproduction of polyestrus mammals (like humans and laboratory rodents). It influences the age of sexual maturation; the timing of the ovulatory cycle; and gonadal steroidogenesis.2. Here the authors report the early and late effects of pinealectomy (Px) and sham-pinealectomy (SPx) on the estrous cycle periodicity, plasma LH, FSH and urinary 6-sulphatoxymelatonin (6-SMT) excretion in female rats.3. Female Wistar rats (3-4 months of age) were maintained on 12/12 L/D cycle. Orbital venous plexus blood and urine samples were collected from the same rat during the estrus phase before surgery, 4-7 and 55-60 days post surgery.4. Daily vaginal smears were taken to monitor the estrous cycle and they showed a time dependent increase in the estrus stage duration in Pr rats (estrus stage: 1 day in control; 3-4 days after 45 days pr).5. the decrease of gonadotropins at early post Pr was due to surgical stress.6. 6-SMT levels were significantly lower at 4-7 days post SPx, but at 55-60d post surgery these levels returned to control values, which indicate pineal gland integrity. the reduction in urinary 6-SMT may be attributed to a possible high level of plasma corticosterone occurring after surgical manipulations.7. 6-SMT levels in Pr rats were extremely lower at 4-7 and 55-60 days post surgery, but not null, confirming the surgical removal of the pineal gland and indicating the synthesis of melatonin in sites other than the pineal gland.