HUM-MOLGEN archive: DIAG: PT.REQ(Alport S.)/ Intracytoplasmic sperm injection

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 1 submessage(s): 1) PATIENT REQUEST: ALPORT SYNDROME 2) intracytoplasmic sperm injection (ICSI) Carlo Gambacorti MD, Editor, Human Molecular Genetics network Diagnostics/Clinical Research Section ************************************************************** ************************************************************** Five members of our family are hit by the alport-syndrom. Do there are any new realizations except the kidney-transplantation? PLEASE REPORT INFORMATION TO HUM-MOLGEN DIRECTLY. Apparent family location: Germany ************************************************************** ************************************************************** At the recent Andrology in the Nineties conference in Belgium there was much debate about the use of intracytoplasmic sperm injection (ICSI) from oligoasthenozoospermic (OAT) men and genetic risk. Peter Vogt reported on the increased incidence of Y-chromosome delections and sex chromosome anomalies in such men, and there seems to be evidence of a general increase of paternally inherited anomalies in offspring (see also the somewhat restricted series for women of advanced maternal age reported by In't Veld in Lancet 346: 773, 1995). While the excellent data from the Brussels group reported by Van Steirteghem does not give rise to urgent concern, Moosani et al ( Fertility & Sterility 1995 64(4):811-817) in an analysis of sperm nuclei by fluorescence in situ hybridization report a significant increase in the frequency of disomy for chromosome I and XY disomy for infertile men. The take-home message is that any AOT men and their partners seeking ICSI for infertility should be given rigorous genetic counselling and advice about the possible consequences, especially for male offspring. Screening for satellite deletions in the AZF region of the Y chromosome should be mandatory IMHO. In Belgium now 1% of all births arise from some form of assisted reproductive technology, and this is likely to rise, according to Frank Comhaire. If we assume that the incidence of infertility is 10-15% and that now nearly all cases can be "treated" by ICSI it is logical to assume that a similar proportion of all births will result. Even if only 10% of OAT men carry a risk of genetic abormality this is still a highly disturbing scenario for the next generation. These conditions can *only* be transmitted iatrogenically - unlike diabetes, for example, where couples have the choice of reproducing or not reproducing. With the incredible acceleration of ICSI into the "run of the mill" IVF clinics without access to intensive genetic and paediatric services the long-term implications for health care costs makes the low-birthweight problems of conventional IVF babies look almost trivial. Alarm bells are ringing, I'm afraid. Jim Cummins Associate Professor in Veterinary Anatomy Murdoch University, Western Australia 6150 Tel +61-9-360 2668, Fax +61-9-310 4144 E mail <cummins@possum.murdoch.edu.au> URL <http://Numbat.murdoch.edu.au/spermatology/spermhp.html>