Delayed puberty other diagnostic studies: Difference between revisions
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==Overview== | ==Overview== | ||
[[Karyotyping]] is used to diagnose delayed puberty caused by [[chromosomal disorder | [[Karyotyping]] is used to diagnose delayed puberty caused by [[Chromosomal disorder|chromosomal disorder<nowiki/>s]], such as [[Turner syndrome]] and [[Klinefelter syndrome]]. University of Pennsylvania Smell Identification Test (UPSIT), consist of microencapsulated odorants released by scratching standardized odor-impregnated questionnaires, is used to detect [[hyposmia]] or [[anosmia]] in [[Kallmann syndrome]]. | ||
==Other Diagnostic Studies== | ==Other Diagnostic Studies== | ||
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=== Karyotyping === | === Karyotyping === | ||
* [[Karyotyping]] is the way of direct visualization of human [[chromosomes]] in a view. | * [[Karyotyping]] is the way of direct visualization of human [[chromosomes]] in a view. | ||
* The main syndromes which are the cause of delayed [[puberty]], [[Turner syndrome]] and [[Klinefelter syndrome]] can be diagnosed by [[karyotyping]]. | * The main syndromes which are the cause of delayed [[puberty]], [[Turner syndrome]] and [[Klinefelter syndrome]] can be diagnosed by [[karyotyping]]. |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Eiman Ghaffarpasand, M.D. [2]
Overview
Karyotyping is used to diagnose delayed puberty caused by chromosomal disorders, such as Turner syndrome and Klinefelter syndrome. University of Pennsylvania Smell Identification Test (UPSIT), consist of microencapsulated odorants released by scratching standardized odor-impregnated questionnaires, is used to detect hyposmia or anosmia in Kallmann syndrome.
Other Diagnostic Studies
Karyotyping
- Karyotyping is the way of direct visualization of human chromosomes in a view.
- The main syndromes which are the cause of delayed puberty, Turner syndrome and Klinefelter syndrome can be diagnosed by karyotyping.
- Turner syndrome is characterized by one single X chromosome in females, instead of one pair of X chromosomes.[1]
- Klinefelter syndrome is characterized by two X chromosomes along with Y chromosome in males, instead of one X and one Y chromosomes.[2]
Olfactory function test
- The test, called University of Pennsylvania Smell Identification Test (UPSIT), is consisted of microencapsulated odorants; released by scratching standardized odor-impregnated questionnaires.[3]
- It is used to detect hyposmia or anosmia in Kallmann syndrome.[4]
References
- ↑ 1.0 1.1 "Turner syndrome - Genetics Home Reference".
- ↑ 2.0 2.1 "Klinefelter syndrome - Genetics Home Reference".
- ↑ Doty RL, Shaman P, Kimmelman CP, Dann MS (1984). "University of Pennsylvania Smell Identification Test: a rapid quantitative olfactory function test for the clinic". Laryngoscope. 94 (2 Pt 1): 176–8. PMID 6694486.
- ↑ Palmert, Mark R.; Dunkel, Leo (2012). "Delayed Puberty". New England Journal of Medicine. 366 (5): 443–453. doi:10.1056/NEJMcp1109290. ISSN 0028-4793.