Klinefelter's syndrome history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
History
Symptoms
- Affected males are almost always effectively sterile, although advanced reproductive assistance is sometimes possible.[1]
- Some degree of language learning impairment may be present,[2] and neuropsychological testing often reveals deficits in executive functions[3].
- In adults, possible characteristics vary widely and include little to no signs of affectedness, a lanky, youthful build and facial appearance, or a rounded body type with some degree of gynecomastia (increased breast tissue).[4]
- Gynecomastia is present to some extent in about a third of affected individuals, a slightly higher percentage than in the XY population, but only about 10% of XXY males' gynecomastia is noticeable enough to require surgery.[5]
- There are many variances within the XXY population, just as in the most common 46,XY population. While it is possible to characterise 47,XXY males with certain body types, that in itself should not be the method of identification as to whether or not someone has 47,XXY. The only reliable method of identification is karyotype testing.
References
- ↑ Denschlag, Dominik, MD; Clemens, Tempfer, MD; Kunze, Myriam, MD; Wolff, Gerhard, MD; Keck, Christoph, MD (October 2004), "Assisted reproductive techniques in patients with Klinefelter syndrome: A critical review", Fertility and Sterility, 82 (4): 775–779, doi:10.1016/j.fertnstert.2003.09.085
- ↑ Graham, JM Jr; Bashir, AS; Stark, RE; Silbert, A; Walzer, S (June 1988), "Oral and written language abilities of XXY boys: implications for anticipatory guidance.", Pediatrics, 81 (6): 795–806, PMID 3368277
- ↑ Boone et al: (2001), "Neuropsychological profiles of adults with Klinefelter syndrome" in Journal of International Neuropsychological Society, #7, p 446-456.
- ↑ Abstract of Klinefelter, HF (1986), "Klinefelter's syndrome: historical background and development.", South Med J, 79 (9): 1089–1093, PMID 3529433 provides information on microorchidism (small testes), hypogonadism (infertility/sterility and androgen hormone function) and gynecomastia. Bock, Robert (1993 Aug). "Understanding Klinefelter Syndrome: A Guide for XXY Males and Their Families" (HTML). NIH Pub. No. 93-3202. Office of Research Reporting, NICHD. Retrieved 2007-03-28. Unknown parameter
|month=ignored (help); Check date values in:|date=(help) offers substantive information about body type and appearance until a more rigorous source is found/supplied. - ↑ Bock, Robert (1993 Aug). "Understanding Klinefelter Syndrome: A Guide for XXY Males and Their Families, Adolescence section" (HTML). NIH Pub. No. 93-3202. Office of Research Reporting, NICHD. Retrieved 2007-03-29. Unknown parameter
|month=ignored (help); Check date values in:|date=(help) describes statistical occurrence of gynecomastia and surgical treatment.