Gonadoblastoma diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]

Overview

There are no established criteria for the diagnosis of gonadoblastoma. It is often found during a workup for ambiguous genitalia in infancy or sexual developmental disorder in puberty. Chromosomal analysis plays the most beneficial role in the diagnosis of conditions associated with gonadoblastoma. However, sometimes the Y chromosome materials are present in molecular level and cannot be diagnosed karyotypically. In theses individuals, molecular analysis of chromosomes using polymerase chain reaction (PCR) and/or fluorescence in situ hybridization (FISH) may be helpful.

Diagnostic Study of Choice

Study of choice

There is no single diagnostic study of choice for the diagnosis of gonadoblastoma, but gonadoblastoma can be diagnosed based on the karyotype analysis and imaging studies.

Sequence of Diagnostic Studies

The karyotype analysis must be performed:[1]

Although very uncommon, gonadoblastoma may affect genotypically normal individuals as well.

References

  1. Brant, William O.; Rajimwale, Ashok; Lovell, Mark A.; Travers, Sharon H.; Furness, Peter D.; Sorensen, Mathew; Oottamasathien, Siam; Koyle, Martin A. (2006). "Gonadoblastoma and Turner Syndrome". Journal of Urology. 175 (5): 1858–1860. doi:10.1016/S0022-5347(05)00932-8. ISSN 0022-5347.

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