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Cytogenetic and Y chromosome microdeletion screening of a random group of infertile males
Claire R Quilter1, Elizabeth C Svennevik, Paul Serhal
1The Galton Laboratory, University College London (UCL), NW1 2HE, London, United Kingdom. crq20@cam.ac.uk
Objective:
To assess whether to perform routine cytogenetic and Y chromosome microdeletion screening on all infertile male patients.
Design:
A cytogenetic and Y microdeletion study of a random group of infertile men.
Setting:
University department.
Patient(S):
In total, 40 patients had azoospermia (21 nonidiopathic), 27 had severe oligozoospermia/oligoasthenozoospermia (
Intervention(S):
Collection of blood samples from all patients and buccal cells from one patient.
Main Outcome Measure(S):
Karyotype analysis, polymerase chain reaction (PCR) screening for Y chromosome microdeletions, and fluorescence in situ hybridization of abnormal chromosomes.
Result(S):
Ten (9.7%) subjects, including one nonidiopathic patient, were found to have an abnormal karyotype. Two idiopathic azoospermic patients were missing large portions of Y chromosome euchromatin, confirmed by PCR analysis and an additional idiopathic azoospermic patient had a Y chromosome microdeletion.
Conclusion(S):
Routine cytogenetic analysis of all infertile male patients is required but it may be advisable to limit routine Y chromosome microdeletion screening to patients with severe male factor infertility (
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