Y chromosome deletions associated with human infertility

W. E. Nolten, J. L. Pryor, L. F. Meisner, K. P. Roberts, M. G. Kent

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Deletions on the Y chromosome have recently been linked to azoospermia in humans. In order to define regions along the Y chromosome associated with male infertility we studied men with severe oligo- or azoospermia (OS, AS). Patients underwent physical exam, measurements of testosterone (T) and FSH, cytogenetic analysis (CA) and PCR amplification of 120 sequence tagged sites covering the entire euchromatic portion of the Y chromosome. Results: CASE TESTES T FSH SEMEN DELETIONS CA 1 small n1 high AS Yq5a-6c - 2 smal1 low n1 OS Yq5q(YRRM1) n1 3 small n1 n1 AS Yq5m to terminus dic(Y) 4 n1 n1 n1 OS Yq6f - 5 n1 n1 high AS Yq6q (YRRM1) n1 6 n1 n1 high OS Yq6q (YRRM1) n1 7 small low high AS Yq6 (DAZ) n1 Deletions associated with OS and AS were found in Yq intervals 5, 6 and 7. Some deletions do not overlap and occur as micromutations, suggesting that multiple genes relating to spermatogeneeis reside in this region. Patients with larger deletions had small testes. However, testicular size and T were normal in patients 5 and 6 who had a single site deletion. This indicates that patients with normal physical findings and normal karyotype can have microdeletions on the Y chromosome causing infertility. Since only one patient had a cytogenetically detectable Y chromosome aberration, it is important that men with idiopathic infertility be screened with PCR analysis for genetic abnormalities.

Original languageEnglish (US)
Pages (from-to)106A
JournalJournal of Investigative Medicine
Issue number1
StatePublished - Jan 1 1996


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