Klinefelter's syndrome physical examination

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Klinefelter's syndrome Microchapters

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

Overview

Physical Examination

  • 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).[1]
  • 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.[2]
  • 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.
  • Hypogonadism in XXY symptoms is often misinterpreted to mean "small testicles" or "small penis". In fact, it means decreased testicular hormone/endocrine function. Because of this hypogonadism, patients will often have a low serum testosterone level but high serum follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels.[3] Despite this misunderstanding of the term, however, it is true that XXY men often also have "microorchidism" (i.e. small testicles).[3]
Patient with typical untreated (surgery/hormones) Klinefelter 46,XY/47,XXY mosaic, diagnosed at age 19. Scar from biopsy may be visible on left nipple.
Same patient from the side.

References

  1. 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.
  2. 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.
  3. 3.0 3.1 Leask, Kathryn (October 2005). "Klinefelter syndrome" (HTML). National Library for Health, Specialist Libraries, Clinical Genetics. National Library for Health. Retrieved 2007-04-07.



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