Abstract
INTRODUCTION AND OBJECTIVES: Men with mosaic Klinefelter Syndrome (mKS) are considered to be better androgenized and less likely to be azoospermic compared to men with non-mosaic Klinefelter’s Syndrome (nmKS). We evaluated the relative sperm retrieval rates for azoospermic men with mosaic vs. non-mosaic Klinefelter syndrome using microdissection testicular sperm extraction (micro-TESE). METHODS: We reviewed the records of 1,421 men with nonobstructive azoospermia who underwent micro-TESE followed by intracytoplasmic sperm injection. One-hundred and eleven men (7.8%) had karyotypes confirming Klinefelter syndrome. Patient characteristics, micro-TESE and pregnancy outcomes at each time point, and overall trend of pregnancy outcomes were compared between mosaic and nonmosaic Klinefelter patients with Student’s t-test, Fisher’s exact test, and CochraneManteleHaenszel test, respectively. RESULTS: Nine (8%) men were mosaic, with the percentage of 47 XXY cells ranging from 6-98%. Men with mKS and nmKS had similar clinical and hormonal characteristics (Table). Men with mKS and nmKS had similar sperm retrieval rates, at 78 and 65%, respectively (Figure). Men with had similar outcomes (embryo transfer, biochemical, and clinical pregnancy) relative to men with nmKS. Neither the differences at each stage toward delivery, nor the overall trend in outcomes (p1⁄40.181) were statistically significant. CONCLUSIONS: Although mosaic Klinefelter men are traditionally considered to have better androgenization, the mosaic Klinefelter men who are azoospermic have very similar fertility measures (sperm retrieval, chance of pregnancy) as azoospermic non-mosaic Klinefelter patients. Fertility counseling for azoospermic Klinefelter men should not be affected by the presence of mosaicism. Clinical Characteristics of Men with Mosiac and Non-mosaic Klinefelter’s Syndrome
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