Delayed puberty other diagnostic studies
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Eiman Ghaffarpasand, M.D. [2]
Overview
Overview
Karyotyping is used to diagnose chromosomal disorders in delayed puberty, 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 is the 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), consists of microencapsulated odorants that released by scratching standardized odor-impregnated questionnaires.[3]
- It is used to detect hyposmia or anosmia in Kallmann syndrome.[4]
References
References
- ↑ “Turner syndrome – Genetics Home Reference”.
- ↑ “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.
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