Publications by authors named "Marcello Machado Gava"
The 46 XX, testicular sex differentiation disorder, or XX male syndrome, is a rare condition detected by cytogenetics, in which testicular development occurs in the absence of the Y chromosome. It occurs in 1:20,000 to 25,000 male newborns and represents 2% of cases of male infertility. About 90% of individuals present with normal phenotype at birth and are generally diagnosed after puberty for hypoganadism, gynecomastia, and/or infertility.
View Article and Find Full Text PDFEstrogen plays an important role in the human reproductive system and its action is mediated mainly by two specific receptors: α (ERα) and β (ERβ). There are polymorphic variants in both ER genes, and studies showed their association with reproductive outcomes. We aimed to determine the distribution of ERα and ERβ gene polymorphisms in idiopathic, infertile Brazilian patients in a case-control study comprising 187 idiopathic, infertile Brazilian men with nonobstructive azoospermia (NOA, n = 78) or severe oligozoospermia (SO, n = 109) and 216 fertile men.
View Article and Find Full Text PDFObjective: The objective of this study was to analyze the distribution of the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in idiopathic infertile Brazilian patients with nonobstructive azoospermia (NOA) or severe oligozoospermia and fertile Brazilian men as controls to explore the possible association of these polymorphisms and male infertility.
Methods: A case-control study was carried out, including 156 idiopathic infertile Brazilian patients with NOA (n=49) or severe oligozoospermia (n=107) and 233 fertile men as controls. Polymorphisms C677T and A1298C were studied by quantitative polymerase chain reaction and the results were statistically analyzed.
Objective: To report a man with primary infertility and variant karyotype.
Design: Case report.
Setting: Private practice.