Men with infertility caused by AZFc deletion can produce sons by intracytoplasmic sperm injection, but are likely to transmit the deletion and infertility.
Deletion of the AZFc region of the Y chromosome is the most frequent molecularly defined cause of spermatogenic failure. We report three unrelated men in whom azoospermia or severe oligozoospermia was caused by de-novo AZFc deletions, and who produced sons by intracytoplasmic sperm injection (ICSI). We employed polymerase chain reaction (PCR) assays to examine the Y chromosomes of their four infant sons. All four sons were found to have inherited the Y chromosome deletions. Such sons are likely to be infertile as adults. This likelihood should be taken into account when counselling couples considering ICSI to circumvent infertility due to severe oligozoospermia or non-obstructive azoospermia.
Howard Hughes Medical Institute, Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, 9 Cambridge Center, Cambridge, MA 02142, USA.
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D000328:Adult; D002872:Chromosome Deletion; D003593:Cytoplasm; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007248:Infertility, Male / Q000235:genetics* / Q000628:therapy*; D008297:Male; D008845:Microinjections; D009845:Oligospermia / Q000235:genetics / Q000628:therapy; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D016324:Sequence Tagged Sites; D013094:Spermatozoa; D014998:Y Chromosome / Q000235:genetics*