AZF microdeletions associated with idiopathic and non-idiopathic cases with cryptorchidism and varicocele.
OBJECTIVE
To identify submicroscopic interstitial deletions in azoospermia factor (AZF) loci in idiopathic and non-idiopathic cases of male infertility in Indians.


METHODS
One hundred and twenty two infertile males with oligozoospermia or azoospermia were included in this study. Semen analysis was done to determine the sperm density, i.e., normospermia (>20 million/mL), oligozoospermia (<20 million/mL) or azoospermia. They were subjected to detailed clinical examination and endocrinological and cytogenetic study. Thirty G-banded metaphases were analyzed in the 122 cases and polymerase chain reaction (PCR) microdeletion analysis was done in 70 cytogenetically normal subjects. For this genomic DNA was extracted using peripheral blood. The STS primers tested in each case were sY84, sY86 (AZFa); sY127, sY134 (AZFb); sY254, sY255 (AZFc). PCR amplifications found to be negative were repeated at least 3 times to confirm the deletion of a given marker. The PCR products were analyzed on a 1.8 % agarose gel.


RESULTS
Eight of the 70 cases (11.4 %) showed deletion of at least one of the STS markers. Deletions were detected in cases with known and unknown aetiology with bilateral severe testiculopathy and also in cryptorchid and varicocele subjects.


CONCLUSIONS
AZF microdeletions were seen in both idiopathic and non-idiopathic cases with cryptorchidism and varicocele. The finding of a genetic aetiology in infertile men with varicocele and cryptorchidism suggests the need for molecular screening in non-idiopathic cases.
Dada
Rima
R
Department of Anatomy, All India Institute of Medical Sciences, New Delhi110029, India.
Gupta
N P
NP
Kucheria
K
K
D000328:Adult; D001707:Biopsy, Needle; D002871:Chromosome Banding; D041322:Chromosomes, Human, Y; D003456:Cryptorchidism / Q000235:genetics*; D005640:Follicle Stimulating Hormone / Q000097:blood; D017353:Gene Deletion; D056426:Genetic Loci; D006801:Humans; D008297:Male; D008677:Metaphase; D009845:Oligospermia / Q000209:etiology / Q000235:genetics; D016133:Polymerase Chain Reaction; D012016:Reference Values; D012661:Semen / Q000737:chemistry; D029589:Seminal Plasma Proteins / Q000235:genetics*; D013076:Sperm Count; D013737:Testis / Q000473:pathology; D014646:Varicocele / Q000235:genetics*
D029589:Seminal Plasma Proteins; D005640:Follicle Stimulating Hormone