Diagnosis of the gr/gr Y chromosome microdeletion does not help in the treatment of infertile American men

• Published in: The Journal of urology Vol. 185; no. 1; p. 233
• Main Authors: Stahl, Peter J, Mielnik, Anna, Margreiter, Markus, Marean, Michael B, Schlegel, Peter N, Paduch, Darius A
• Format: Journal Article
• Language: English
• Published: United States 01-01-2011
• Subjects: Azoospermia - etiology; Azoospermia - genetics; Azoospermia - therapy; Chromosome Deletion; Chromosomes, Human, Y; Humans; Infertility, Male - etiology; Infertility, Male - genetics; Infertility, Male - therapy; Male; Retrospective Studies; Sex Chromosome Aberrations; Sex Chromosome Disorders of Sex Development - complications; Sex Chromosome Disorders of Sex Development - diagnosis; United States; United States
• ISSN: 1527-3792
• DOI: 10.1016/j.juro.2010.09.016

The phenotypic effects of the gr/gr partial azoospermia factor c deletion vary geographically and to our knowledge have not been reported in the American population. We evaluated the clinical characteristics of infertile American men with the gr/gr deletion.
We retrospectively reviewed clinical data on 1,410 infertile men tested for the gr/gr deletion. We analyzed sperm concentration and the outcome of microdissection testicular sperm extraction with respect to gr/gr status.
We identified 73 men with gr/gr deletions, including 43 of 989 (4.3%) with azoospermia, 18 of 317 (5.7%) with severe oligospermia (less than 5 million sperm per ml), 6 of 61 (9.8%) with oligospermia (5 to less than 20 million sperm per ml) and 6 of 43 (14%) infertile men with normospermia (greater than 20 million sperm per ml). A gr/gr deletion correlated with higher sperm production. The gr/gr deletion rate was higher in men with normospermia than in those with a sperm concentration of less than 20 million and less than 5 million per ml (p = 0.021 and 0.006, respectively). Microdissection testicular sperm extraction was done in 22 azoospermic men with gr/gr deletions and sperm were retrieved in 14 (64%). This retrieval rate was similar to that at our center in men with idiopathic nonobstructive azoospermia (p = 0.13).
Diagnosis of the gr/gr deletion did not predict impaired sperm production in our patient population and did not appear to alter the prognosis for surgical sperm retrieval. Despite the established modulatory impact of the gr/gr deletion on sperm production in some populations at this time the clinical value of testing infertile American men for the gr/gr deletion is not clear.