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Incidence of Y chromosome microdeletions in patients with Klinefelter syndrome.
- Source :
-
Journal of endocrinological investigation [J Endocrinol Invest] 2019 Jul; Vol. 42 (7), pp. 833-842. Date of Electronic Publication: 2018 Nov 29. - Publication Year :
- 2019
-
Abstract
- Purpose: The aim of this study was to study the incidence of Y chromosome microdeletions in a Caucasian population of Klinefelter syndrome (KS) patients and to investigate the possible association between Y chromosome microdeletions and KS.<br />Materials and Methods: We conducted a retrospective study on 118 KS patients, 429 patients with non-obstructive azoospermia (NOA), and 155 normozoospermic men. Eight of the 118 KS patients had undergone testicular sperm extraction (TESE). All patients underwent semen examination and Y chromosome microdeletions evaluated by PCR, using specific sequence tagged site (STS) primer sets, which spanned the azoospermia factor AZFa, AZFb, and AZFc regions of the Y chromosome.<br />Results: Semen analysis of the KS group revealed: 1 patient with oligozoospermia, 1 with severe oligoasthenoteratozoospermia, 2 with cryptozoospermia, and 114 with azoospermia. Eight of the 114 azoospermic KS patients underwent TESE, and spermatozoa were recovered from three of these, all of whom had non-mosaic karyotype 47, XXY. 10.7% of the NOA patients presented AZF microdeletions. In 429 cases with NOA, 8 cases had AZFa + b + c deletion, 6 cases had AZF b + c deletion, 4 cases had AZFa microdeletion, 8 cases had AZFb microdeletion, and 20 cases had AZFc microdeletion. Just one KS patient (0.8%) presented microdeletion in the AZFc region.<br />Conclusion: The percentage of microdeletions in KS patients was lower than in NOA patients, suggesting that AZF microdeletions and KS do not have a causal relationship and that Y chromosome microdeletions are not a genetic factor linked to KS.
Details
- Language :
- English
- ISSN :
- 1720-8386
- Volume :
- 42
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Journal of endocrinological investigation
- Publication Type :
- Academic Journal
- Accession number :
- 30499012
- Full Text :
- https://doi.org/10.1007/s40618-018-0989-7