Klinefelter's syndrome historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Historical Perspective

The syndrome is named after Dr. Harry Klinefelter, an endocrinologist at Massachusetts General Hospital in Boston, MA, who first described it in 1942.[1]

The first published report of a man with a 47,XXY karyotype was by Patricia A. Jacobs and Dr. J.A. Strong at Western General Hospital in Edinburgh, Scotland in 1959.[2] This karyotype was found in a 24-year-old man who had signs of Klinefelter's syndrome. Dr. Jacobs described her discovery of this first reported human or mammalian chromosome aneuploidy in her 1981 William Allan Memorial Award address.[3]

References

  1. Klinefelter, HF Jr; Reifenstein, EC Jr; Albright (1942), "Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone.", J Clin Endocrinol Metab, 2: 615–624, PMID too early to be indexed ''too early to be indexed'' Check |pmid= value (help). Klinefelter, HF (1986), "Klinefelter's syndrome: historical background and development.", South Med J, 79 (45): 1089–1093, PMID 3529433 talks about the history of the development of the literature.
  2. Jacobs PA, Strong JA (1959). "A case of human intersexuality having a possible XXY sex-determining mechanism". Nature. 183 (4657): 302–3. doi:10.1038/183302a0. PMID 13632697. Unknown parameter |month= ignored (help)
  3. Jacobs PA (1982). "The William Allan Memorial Award address: human population cytogenetics: the first twenty-five years". Am J Hum Genet. 34 (5): 689–98. PMID 6751075. Unknown parameter |month= ignored (help)



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