Abstract
BackgroundThe purpose of this study is to evaluate the prognostic factors for sperm retrieval and determine if Y chromosome deletion is associated with deleterious effects on spermatogenesis in non-mosaic Klinefelter patients. Whether Y chromosome deletion determines the sperm retrieval rate in non-mosaic Klinefelter patients has not yet been addressed.MethodsWe retrospectively collected medical records of azoospermic patients from Sep 2009 to Dec 2018, and enrolled 66 non-mosaic 47, XXY patients who were receiving mTESE. The predictive values of patients age, serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, prolactin, estradiol and Y chromosome deletion were assessed for successful sperm recovery.ResultsTesticular sperm recovery was successful in 24 (36.4%) of 66 men. The mean age (36.0 vs. 36.6 years), and levels of FSH (30.0 vs 36.9 IU/L), LH (17.7 vs 21.9 IU/L), testosterone (2.4 vs. 2.1 ng/ml), prolactin (9.1 vs. 8.8 ng/ml), and estradiol (19.4 vs. 22.3 pg/ml) did not show any significant difference when comparing patients with and without successful sperm retrieval. Partial deletion of azoospermic factor c (AZFc) was noted in 5 (20.8%) of 24 patients with successful sperm retrieval, including three b2/b3 and two gr/gr deletion cases, whereas 4 (9.5%) of 42 patients with unsuccessful sperm retrieval were noted to have AZFc partial deletion (one b2/b3, one sY1206 and two gr/gr deletion), though the difference was not statistically significant (p = 0.27).ConclusionAccording to present results, age and AZFc partial deletion status should not be a deterrent for azoospermic males with non-mosaic Klinefelter syndrome to undergo mTESE.
Highlights
The purpose of this study is to evaluate the prognostic factors for sperm retrieval and determine if Y chromosome deletion is associated with deleterious effects on spermatogenesis in non-mosaic Klinefelter patients
According to recommendations from the American Society for Reproductive Medicine (ASRM) and European Association of Urology (EAU), cytogenetic analysis is suggested for patients with azoospermia or oligozoospermia
Azoopsermic non-mosaic Klinefelter men and Y chromosome deletion The cohort of 66 azoospermic non-mosaic Klinefelter men with chromosome 47, XXY had a mean age of 36.4 ± 5.2 years
Summary
The purpose of this study is to evaluate the prognostic factors for sperm retrieval and determine if Y chromosome deletion is associated with deleterious effects on spermatogenesis in non-mosaic Klinefelter patients. Whether Y chromosome deletion determines the sperm retrieval rate in non-mosaic Klinefelter patients has not yet been addressed. The threshold of sperm count recommended for karyotype analysis differs between the two Genetic mutation or chromosome abnormality is more common in infertile males than in the general population, and investigations have shown that the percentage of chromosome abnormalities and Y chromosome. About 90% of patients have uniform 47, XXY karyotype (pure KS) in which an extra X chromosome is present in somatic and germ cells, while 10% of KS can present with higher-grade of X chromosome aneuploidies (48 or more chromosomes) as well as mosaicism (47, XXY/46, XY) [7]. Mosaic KS men tend to be more androgenized than their non-mosaic KS counterparts in terms of hormone profile and sperm count in ejaculate, representing better fertility potential, especially in lowgrade mosaicism form [9]
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