Objective: To describe an unusual presentation of ring chromosome 12, which manifested as severe azoospermia, resulting in male infertility.
Design: Case report.
Setting: In vitro fertilization center at a tertiary care hospital.
Patient(s): A 27-year-old man diagnosed with unexplained azoospermia and ring chromosome 12 abnormality during a workup for primary infertility.
Intervention(s): In vitro fertilization with preimplantation genetic diagnosis.
Main outcome measure(s): To confirm the importance of obtaining karyotypes in individuals with severe oligospermia.
Result(s): Full-term pregnancy after IVF using donor sperm.
Conclusion(s): Severe oligospermia and male infertility should be included in the spectrum of findings found in ring chromosome 12.