MICRODELETIONS OF THE Y-CHROMOSOME AND INTRACYTOPLASMIC SPERM INJECTION - FROM GENE TO CLINIC

Intracytoplasmic sperm injection (ICSI) is a successful treatment opti on for severe male infertility, although the aetiology of the disorder remains unclear in most cases, Recently, microdeletions in the AZF re gion of the Y chromosome have been detected in men with azoospermia or severe oligozoospermia, In this study we investigated the prevalence of microdeletions in the AZF region of the Y chromosome in a populatio n of men undergoing ICSI, and looked for clinical characteristics of m en with and without this deletion, Blood was drawn from 164 men, who w ere on the waiting list for ICSI treatment: 19 were azoospermic, 111 o ligozoospermic and 34 normozoospermic (after previous total fertilizat ion failure), A total of 100 men with proven fertility served as a con trol, Microdeletions in the AZFc region were present in seven of the 1 11 oligozoospermic men (6.3%), Compared with oligozoospermic men witho ut microdeletions, men with microdeletions had a lower concentration o f follicle stimulating hormone (FSH), a lower number of motile spermat ozoa and a lower frequency of abnormal findings at andrological histor y or examination, No microdeletions were found in the azoospermic, nor mozoospermic and control groups, In conclusion, microdeletions in the AZFc region are relatively frequently found in men with severe unexpla ined oligozoospermia, In the ICSI era this finding has an important im pact because this form of male infertility is now potentially heredita ry, Therefore we recommend DNA screening (and genetic counselling) bef ore ICSI, especially in men with normal FSH, severe oligozoospermia an d no abnormal clinical andrological findings.