Delayed puberty other diagnostic studies

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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 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

Karyotyping of Turner syndrome, source: https://www.ghr.nlm.nih.gov/
Karyotyping of Klinefelter syndrome, source: https://www.ghr.nlm.nih.gov/

Karyotyping

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

  1. "Turner syndrome - Genetics Home Reference".
  2. "Klinefelter syndrome - Genetics Home Reference".
  3. 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.
  4. 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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