Ring chromosome 12 and severe oligospermia: a case report

Fertil Steril. 2008 Aug;90(2):443.e13-5. doi: 10.1016/j.fertnstert.2007.07.1347. Epub 2007 Sep 19.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Azoospermia / genetics*
  • Chromosomes, Human, Pair 12*
  • Female
  • Fertilization in Vitro
  • Humans
  • Infertility, Male / genetics*
  • Insemination, Artificial, Heterologous
  • Learning Disabilities / genetics
  • Male
  • Microcephaly / genetics
  • Pregnancy
  • Preimplantation Diagnosis
  • Ring Chromosomes*