A High Frequency of Y Chromosome Deletions in Males with Nonidiopathic Infertility¹

Abstract

Microdeletions of the long arm of the human Y chromosome are associated with spermatogenic failure and have been used to define three regions of Yq (AZFa, AZFb, and AZFc) that are recurrently deleted in infertile males. In a blind study we screened 131 infertile males (46 idiopathic and 85 nonidiopathic) for Y chromosome microdeletions. Nineteen percent of idiopathic males, with an apparently normal 46,XY chromosome complement had microdeletions of either the AZFa, AZFb, or AZFc region. There was no strict correlation between the extent or location of the deletion and the phenotype. The AZFb deletions did not include the active RBM gene. Significantly, a high frequency of microdeletions (7%) was found in patients with known causes of infertility and a 46,XY chromosome complement. These included deletions of the AZFb and AZFc regions, with no significant difference in the location or extent of the deletion compared with the former group. It is recommended that all males with reduced or absence sperm counts seeking assisted reproductive technologies be screened for deletions of the Y chromosome.

Caracterização molecular e classificação funcional de novos padrões de expressão génica e de RNA não codificadores no tecido testicular de homens com infertilidade genética ou idiopática

“…Assim, existem numerosos trabalhos relatando a frequência das microdeleções na população masculina com infertilidade primária (Colaco & Modi, 2018) por exemplo a análise de 131 homens inférteis revelou que 8,7% possuíam microdeleções na região AZF do cromossomo Yq. (C. Krausz et al, 1999). Casos similares ocorreram na análise de 3000 homens inférteis onde a frequência de microdeleções na região AZF foi de 7,3% (Rolf, Gromoll, Simoni, & Nieschlag, 2002) e no trabalho de Pina-Neto et al, 2006, no qual foi detectada uma frequência de 7,5% de microdeleções na região AZF do cromossomo Yq.…”