Human Reproduction, Vol. 18, No. 11, 2298-2301,
November 2003
© 2003 European Society of Human Reproduction and Embryology
Cytogenetic and molecular study of a premature male infant with 46,XX derived from ICSI: Case report
1 Department of Obstetrics and Gynecology 2 Department of Pathology and Laboratory Medicine and 3 Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
4 To whom correspondence should be addressed at: Department of Obstetrics and Gynaecology, Room 313, Willow Pavilion, Vancouver Hospital and Health Sciences Center, 12th Avenue, Vancouver British Columbia V5Z 1M9, Canada. e-mail: sai{at}interchange.ubc.ca
We investigated the aetiology of the male phenotype in a premature infant derived from ICSI with a 46,XX karyotype. A karyotypically normal couple underwent ICSI because of obstructive azoospermia in the male partner. Sperm were retrieved by testicular sperm extraction (TESE), cryopreserved, and later used for ICSI. The pregnancy after ICSI ended at 20 weeks. A normal-appearing male was delivered but he did not survive. Umbilical cord blood and placenta were sampled and used for molecular and cytogenetic investigation. The 46,XX karyotype from G-banding in this male infant correlated to a balanced female comparative genomic hybridization (CGH) profile in placental tissue. No PCR amplification of SRY on the p arm of the Y chromosome was observed while fluorescence in-situ hybridization (FISH) with the SRY probe also could not detect the gene in cord blood or placental tissues. CGH and FISH, with X and Y centromeric probes, failed to detect mosaicism in the trophoblast, stroma and amnion. Skewed X-chromosome inactivation (81%) was found in the chorionic villi. The molecular and cytogenetic studies indicated a 46,XX male infant without the SRY gene or 46,XX/XY mosaicism. The possible mechanism in this SRY-negative XX male by ICSI is discussed.
Key words: 46,XX male/comparative genomic hybridization/fluorescence in-situ hybridization/ICSI/SRY gene