Constitutional mosaic trisomy 21 and azoospermia: a case report.
Constitutional full trisomy 21 is a common disorder in which abnormal spermatogenesis has been previously described. However, constitutional mosaic trisomy 21 in an otherwise normal but infertile male has not been explored. We report a case with low level mosaic trisomy 21 in a non-syndrome but azoospermic patient. We also propose that the patient's azoospermia may be related to the constitutional mosaic trisomy 21 and thus resulting in a late onset of testicular failure.
Lu
Guo-hui
GH
Department of Pathology and Genetics, US Labs, Irvine, CA 92602, USA. ghlu2003@yahoo.com
Edwards
Janice G
JG
Whitman-Elia
Gail
G
Chen
Tian-jian
TJ
Ambruzs
Ed
E
Best
Robert G
RG
D000328:Adult; D053713:Azoospermia / Q000150:complications* / Q000235:genetics*; D004314:Down Syndrome / Q000150:complications* / Q000235:genetics*; D006801:Humans; D008297:Male; D009030:Mosaicism