Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Klinefelter's syndrome historical perspective
Introduction
Overview
Overview
Historical Perspective
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
References
- ↑ 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. - ↑ 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) - ↑ 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
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]