Molecular testing for Υ chromosome microdeletions is used in the evaluation of men with azoospermia, severe oligozoospermia, or other unexplained infertility.
Υ chromosome microdeletions (YCM) is a family of genetic disorders caused by the lack of a gene or genes on the Υ chromosome. Many men with Υ chromosome microdeletions have no symptoms and live a normal life. However, microdeletions of the Υ chromosome are known to be present in a significant number of men with reduced fertility. The microdeletions refer to three loci located on the long arm of the Υ chromosome: AZFa, AZFb, and AZFc.
Infertility due to microdeletions of the Υ chromosome is characterized by azoospermia (absence of semen), severe oligozoospermia (< 1 x 106 spermatozoa/ mL), moderate oligozoospermia (1-5 x 106 spermatozoa/mL) or mild oligozoospermia (5-15 x 106 spermatozoa/mL). Men with infertility due to Y chromosome microdeletions usually have no obvious symptoms, although a physical examination may reveal small testes.
Suspected infertility due to Υ chromosome microdeletions can be raised in otherwise healthy men with azoospermia or oligozoospermia or abnormal morphology of the spermatozoa and in whom other causes of infertility have been investigated and excluded.
In cases of Υ chromosome microdeletions, pregnancy can be achieved by in vitro fertilization using ICSI (intracytoplasmic sperm injection), a fertilization process in which sperm can be recovered by ejaculation (in men with oligozoospermia) or by testicular biopsy (in men with azoospermia). Recovery of sperm from testicular biopsy for IVF is not effective for men with AZFb and AZFa deletions but is successful for most men with AZFc deficiencies. The risk of genetic abnormalities is the same as in any infertile couple using assisted reproduction techniques.
The Υ chromosome-derived infertility is inherited in a Υ-linked manner. As males with Y chromosome microdeletions are sterile, deletions usually appear de novo.
Laboratory test results are the most important parameter for the diagnosis and monitoring of all pathological conditions. 70%-80% of diagnostic decisions are based on laboratory tests. The correct interpretation of laboratory results allows a doctor to distinguish "healthy" from "diseased".
Laboratory test results should not be interpreted from the numerical result of a single analysis. Test results should be interpreted in relation to each individual case and family history, clinical findings, and the results of other laboratory tests and information. Your personal physician should explain the importance of your test results.
At Diagnostiki Athinon we answer any questions you may have about the test you perform in our laboratory and we contact your doctor to get the best possible medical care.