ArticleJournal of assisted reproduction and genetics2025
Non-mosaic Klinefelter syndrome with normal semen parameters and ability to conceive.
Article in Journal of assisted reproduction and genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundNon-mosaic 47,XXY (Klinefelter syndrome, KS) males rarely retain preserved spermatogenesis. Here, we describe a 43-year-old man with intact fertility (prior natural conception, normal semen parameters), challenging conventional phenotypic paradigms.
objectivesTo report an exceptional non-mosaic 47,XXY case with preserved fertility and normozoospermia, redefining classic phenotyping norms. MATERIALS AND
methodsWe conducted an observational study of a couple (male, non-mosaic 47,XXY; female, normal karyotype) undergoing two PGT-A cycles. Data included semen analyses, reproductive system ultrasonography, endocrine profiles, and embryo genetic diagnostics.
resultsTwo PGT-A cycles using fresh/thawed sperm yielded three blastocysts: two aneuploid blastocysts in the first cycle (3BC; 6BC) and one untested blastocyst in the second cycle (4BC). Due to cost constraints, the patient declined euploidy testing in the second cycle. A thawed embryo transfer (FET) was performed with the untested blastocyst, resulting in no pregnancy.
conclusionThis study presents a paradigm-shifting case of successful assisted reproduction in a couple where the male partner has non-mosaic KS with preserved fertility potential. Our findings challenge conventional assumptions about natural conception in KS patients and underscore the need for: (1) comprehensive evaluation of reproductive endocrine function, (2) molecular characterization of the testicular microenvironment, and (3) longitudinal assessment of fertility potential in atypical KS presentations.
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