RESUMO
The aim of this study was to compare results of karyotypes and fluorescence in situ hybridisation (FISH) technique among non-obstructive azoospermic men and to evaluate feasibility of using FISH to assess the types of major sex chromosome abnormalities. We compared results of karyotypes and FISH technique in those patients, and the association between genetic abnormality and clinical and hormonal parameters was evaluated. We studied 68 non-obstructive azoospermic men using conventional cytogenetics and FISH. Karyotyping revealed chromosomal abnormalities in 28 males (41%); the most common was Klinefelter syndrome (82%). FISH proved very effective in verifying low level of mosaisim in two cases with Klinefelter syndrome and complex chromosomal rearrangements in four cases with structural sex chromosome abnormalities. Our results indicate that genetic testing and screening is important in men with hypergonadotrophic azoospermia prior to the employment of assisted reproduction techniques. FISH analysis is recommended before discussing the risk of chromosomal aberrations in the offspring of infertile couples.
Assuntos
Azoospermia/genética , Cromossomos Sexuais/genética , Adulto , Azoospermia/sangue , Azoospermia/etiologia , Estudos de Casos e Controles , Hormônio Foliculoestimulante/sangue , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Síndrome de Klinefelter/sangue , Síndrome de Klinefelter/complicações , Síndrome de Klinefelter/genética , Hormônio Luteinizante/sangue , Masculino , Pessoa de Meia-Idade , Mosaicismo , Aberrações dos Cromossomos Sexuais , Testosterona/sangueRESUMO
Congenital malformations (CMs) are permanent changes produced by abnormality of development in a body structure during prenatal life. Population based studies place the incidence of major malformations at about 2-3% of all live births. The etiology is mostly due multifactorial inheritance or unknown (50-80%). The continuum and gradual shift from genetics to genomics will offer new possibilities for diagnosis, treatment, prediction and prevention of congenital malformations. Genomics has many tools including pathogenomics, pharmacogenomics, nutrigenomics and bioinformatics. Pathogenomics will help to discover new genes or susceptibility genes and genetic variants with a role in the pathogenesis of CMs. Pharmacogenomics will identify genetic variants affecting the response to drugs and it should be applied to study drug induced birth defects. Nutrigenomics will determine the impact of diet on genome stability and how genotype determines nutritional requirements. Bioinformatics then will collect, store obtained data, which will facilitate analysis of systems biology questions involving relationships between genes, their variants and biological functions. This knowledge should be translated into more sensitive and specific genetic tests.
Assuntos
Anormalidades Congênitas/genética , Anormalidades Congênitas/prevenção & controle , Genômica/tendências , Farmacogenética/tendências , Humanos , Nutrigenômica/tendências , Fatores de RiscoRESUMO
EEC syndrome an autosomal dominant disorder with variable expression and cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. In this report, we describe a patient with EEC syndrome, adipsic hypernatremia without brain anomalies, and bilateral renal stones, two manifestations that were not reported before.