Gonadoblastoma diagnostic study of choice: Difference between revisions
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== Overview == | == 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]] | 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 [[Molecule|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 == | == Diagnostic Study of Choice == | ||
=== 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]]. | 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 ===== | ===== Sequence of Diagnostic Studies ===== | ||
The [[karyotype]] analysis must be performed:<ref name="BrantRajimwale2006">{{cite journal|last1=Brant|first1=William O.|last2=Rajimwale|first2=Ashok|last3=Lovell|first3=Mark A.|last4=Travers|first4=Sharon H.|last5=Furness|first5=Peter D.|last6=Sorensen|first6=Mathew|last7=Oottamasathien|first7=Siam|last8=Koyle|first8=Martin A.|title=Gonadoblastoma and [[Turner Syndrome]]|journal=Journal of Urology|volume=175|issue=5|year=2006|pages=1858–1860|issn=0022-5347|doi=10.1016/S0022-5347(05)00932-8}}</ref> | The [[karyotype]] analysis must be performed:<ref name="BrantRajimwale2006">{{cite journal|last1=Brant|first1=William O.|last2=Rajimwale|first2=Ashok|last3=Lovell|first3=Mark A.|last4=Travers|first4=Sharon H.|last5=Furness|first5=Peter D.|last6=Sorensen|first6=Mathew|last7=Oottamasathien|first7=Siam|last8=Koyle|first8=Martin A.|title=Gonadoblastoma and [[Turner Syndrome]]|journal=Journal of Urology|volume=175|issue=5|year=2006|pages=1858–1860|issn=0022-5347|doi=10.1016/S0022-5347(05)00932-8}}</ref> | ||
Revision as of 21:25, 19 February 2019
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Gonadoblastoma Microchapters |
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Gonadoblastoma diagnostic study of choice On the Web |
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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]
- As the first step of diagnosis, when the patient presents with ambiguous genitalia or abnormal sexual developmental disorders .
- In presence of Y chromosomal content in female phenotype individuals.
- In male phenotype individuals, suspected of intersexual disorder. The regular ultrasound imaging may help in the diagnosis.
- Although helpful, a normal karyotype analysis can not exclude the presence of Y chromosomal content in molecular level, but the regular usage of molecular studies such as polymerase chain reaction (PCR) and/or fluorescence in situ hybridization (FISH) for this purpose has undetermined clinical significance.
Although very uncommon, gonadoblastoma may affect genotypically normal individuals as well.
- In this setting, ultrasound imaging studies in individuals complaining of testicular/lower abdominal mass or discomfort may reveal the presence of the tumor.
References
- ↑ 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.