RESUMO
OBJECTIVES: The objective of our manuscript is to review the current state of research on the genetics of male infertility, highlighting the genetic abnormalities that can lead to non-syndromic male infertility and genetic testing proposed to patients. It is intended primarily for clinicians and biologists of reproductive medicine. METHODS: A comprehensive review of the scientific literature available on PubMed was conducted using keywords related to male infertility and genetics. Since the first genes related to non-syndromic male infertility were identified after the 2000s, bibliographic research was conducted after this date. RESULTS: Thirty-three genes have been identified as responsible for non-syndromic male infertility. The evolution of techniques based on whole genome analysis has allowed the development of more successful methods in the identification of new genes and mutations inducing an infertility phenotype. Through this article, we propose, by concrete examples, a clinical approach for genetic tests considering the semen analysis alterations. CONCLUSIONS: The identification and characterization of these genes and the mutations responsible for certain infertility phenotypes allow better management and better treatment for patients as well as a better understanding of the physiopathological mechanisms of human gametogenesis.
Assuntos
Infertilidade Masculina/genética , Azoospermia/genética , Testes Genéticos , Estudo de Associação Genômica Ampla , Humanos , Masculino , Mutação , Oligospermia/genética , Espermatogênese/genética , Espermatozoides/anormalidades , Espermatozoides/fisiologiaRESUMO
The reproductive toxicity of DDT was investigated in adult male rats exposed to 50 and 100 mg/kg body weight (b.wt) day(-1) for 10 successive days. Compared with control animals, administration of DDT led to a dose-dependent reduction of testicular weight and the number as well as the percentage of motile spermatozoa in the epididymis. Testicular histological observations revealed also a marked loss of gametes in the lumen of seminiferous tubules. In DDT-treated rats, the seminal vesicles weights dropped significantly, resulting from a decrease of testosterone production by testes, whereas serum LH and FSH increased after pesticide exposure. This increase of gonadotrophin levels may be related to an impairment of the negative feedback exerted by the steroid on the hypothalamic--pituitary axis. It is concluded that DDT induced adverse effects on male rat fertility by acting directly on the testes and altering the neuroendocrine function.
Assuntos
DDT/toxicidade , Fertilidade/efeitos dos fármacos , Testículo/efeitos dos fármacos , Testosterona/metabolismo , Animais , Relação Dose-Resposta a Droga , Hormônio Foliculoestimulante/metabolismo , Hormônio Luteinizante/metabolismo , Masculino , Ratos , Ratos Wistar , Motilidade dos Espermatozoides/efeitos dos fármacos , Testículo/patologiaRESUMO
The hepatotoxic effect of 1,1 bis (p-chlorophenyl) 2,2,2 trichloroethane (DDT) treatment for 10 consecutive days has been examined in Wistar rats. DDT exposure increased relative liver weight, dose dependently, with a marked decrease of glycogen content and profound histological changes including cytoplasmic vacuolization, signs of necrosis and nuclear enlargement. The hepatomegaly induced by DDT (50 and 100 mg/kg body weight day-1) appeared not to be accompanied by a significant alteration of the hepatic glucocorticoid receptor concentration and affinity while, serum corticosteroid binding globulin level increased slightly with the lower dose of the pesticide. It is concluded that a short-term exposure to DDT did not lead to a status stress and, therefore, the hepatotoxic effect of organochlorine seemed not to be mediated by endogenous glucocorticoids.
