October 2025 in “Journal of the Endocrine Society” This report highlights that Klinefelter syndrome is often underdiagnosed due to phenotypic variability and emphasizes the importance of thorough physical examinations to improve diagnostic timing.
February 2009 in “Journal of The American Academy of Dermatology” A man with Klinefelter syndrome had a leg ulcer that didn't heal well, even with treatment.
April 2019 in “Journal of the Endocrine Society” This case report described a 39-year-old male with 47XXY/46XX mosaic Klinefelter syndrome who presented with common features of the condition and male pattern baldness seen in his family.
March 2021 in “AACE clinical case reports” This case study reports a rare combination of primary hyperparathyroidism with Klinefelter syndrome in a 44-year-old male, highlighting an unusual KS mosaicism with a mild phenotype.
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May 2018 in “Clinical chemistry” This case report described a 9-year-old girl initially suspected to have complete androgen insensitivity syndrome, whose laboratory tests later suggested an alternative diagnosis involving atypical steroid metabolism patterns and hormonal responses.