Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism

    September 2021 in “ AACE clinical case reports ”
    Cesar Lam, Larissa López Rodríguez, Yayoi Segura Kato, I González, Lourdes Mena-Hernández, Renata Rivera-Juárez, Paloma Almeda‐Valdés, Jazmín Arteaga Vázquez
    TLDR A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
    The document discusses a unique case of a 44-year-old male patient with Klinefelter Syndrome (KS) mosaicism and primary hyperparathyroidism (PHPT). The patient had a history of recurrent urolithiasis and physical examination revealed axillary hair growth, bilateral gynecomastia, a large port-wine stain on the right hemithorax and upper right limb, and genitalia and pubic hair corresponding to Tanner IV classification with small, normal consistency testicles. The patient's chromosomal analysis revealed a rare 45,X/46,XY/47,XXY/48,XXYY/48,XXXY KS mosaic. The study concludes that KS phenotypes are highly variable, and their association with PHPT is still unclear.
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