• PMID: 11050840
• Gene Name: DAZ1
• Condition: Infertility
• Association: Screening of Yq microdeletion in severe olygozoospemic infertile patient
• Mutation: Y chromosome microdeletions
• Population size: 1
• Population details: 1 infertility
• Age: 37
• Sex: Male
• Infertility type: Male infertility
• Associated genes: deleted in azoospermia (DAZ), basic protein Y-2 (BPY2)
• Other associated phenotypes: Oligozoospermica

[Microdeletion of Y chromosome in severe olygozoospemic infertile patient]

Castro A, López P, Johnson MC, Sovino H, Martínez C, Vantman D.

We are reporting a 37 year old male with severe oligozoospermia and a history of infertility for thirteen years and surgery for severe unilateral varicocele. The hormonal levels for FSH, LH and T, and karyotype were within the normal range. Multiplex PCR revealed the presence of a de novo microdeletion in the azoospermia factor (AZF) c region involving the deleted in azoospermia (DAZ) and basic protein Y-2 (BPY2) genes. These results suggest that severe oligozoospermia should be considered for the screening of microdeletions of Yq involving the AZFc region even in the presence of a varicocele. FAU - Castro, A AU - Castro A AD - Instituto de Investigaciones Materno Infantil, Facultad de Medicina, Universidad de Chile, Santiago, Chile. acastro@canela.med.uchile.cl FAU - López, P AU - López P FAU - Johnson, M C AU - Johnson MC FAU - Sovino, H AU - Sovino H FAU - Martínez, C AU - Martínez C