Cytogenetic and Y chromosome microdeletion screening of a random group of infertile males.
OBJECTIVE
To assess whether to perform routine cytogenetic and Y chromosome microdeletion screening on all infertile male patients.


METHODS
A cytogenetic and Y microdeletion study of a random group of infertile men.


METHODS
University department.


METHODS
In total, 40 patients had azoospermia (21 nonidiopathic), 27 had severe oligozoospermia/oligoasthenozoospermia (<or=5 x 10(6)/mL) (5 nonidiopathic), 20 had oligozoospermia/oligoasthenozoospermia (5-20 x 10(6)/mL) (6 nonidiopathic), and 16 had asthenozoospermia (5 nonidiopathic). Many were candidates for intracytoplasmic sperm injection (ICSI).


METHODS
Collection of blood samples from all patients and buccal cells from one patient.


METHODS
Karyotype analysis, polymerase chain reaction (PCR) screening for Y chromosome microdeletions, and fluorescence in situ hybridization of abnormal chromosomes.


RESULTS
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.


CONCLUSIONS
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 (<or=5 x 10(6)/mL).
Quilter
Claire R
CR
The Galton Laboratory, University College London (UCL), NW1 2HE, London, United Kingdom. crq20@cam.ac.uk
Svennevik
Elizabeth C
EC
Serhal
Paul
P
Ralph
David
D
Bahadur
Gulam
G
Stanhope
Richard
R
Sütterlin
Marc
M
Delhanty
Joy D A
JD
Taylor
Kay E
KE
D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D004268:DNA-Binding Proteins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009687:Nuclear Proteins; D009845:Oligospermia / Q000145:classification / Q000235:genetics; D016133:Polymerase Chain Reaction; D011897:Random Allocation; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors