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. Any clue to the presence of an [[intersex]] gonadal abnormality ([[gonadal dysgenesis]]) should raise the concern for the coexisting gonadoblastoma. Chromosomal analysis plays the most beneficial role in the diagnosis of conditions associated with gonadoblastoma. It can be used as the screening test in the infants with external genitalia ambiguity and later in life for individuals suspected of [[intersex]] disorders. Since the presence of Y | 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]]. Any clue to the presence of an [[intersex]] [[gonadal]] abnormality ([[gonadal dysgenesis]]) should raise the concern for the coexisting gonadoblastoma. [[Chromosomal]] analysis plays the most beneficial role in the [[diagnosis]] of conditions associated with gonadoblastoma. It can be used as the [[screening]] test in the [[infants]] with [[external genitalia]] ambiguity and later in life for individuals suspected of [[intersex]] [[disorders]]. Since the presence of [[Y chromosome|Y chromosom]]<nowiki/>al content in individuals with dysgenetic [[gonad]]<nowiki/>s strongly suggests the development of gonadoblastoma in those with gonadal abnormalities, a [[karyotype]] analysis showing [[Y chromosome]] is helpful for [[diagnosis]]. 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. | ||
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=== 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 when:<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 when:<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 patient presented with ambiguous genitalia or abnormal sexual | * The patient presented with [[ambiguous genitalia]] or abnormal sexual developmental disorders as the first step of [[diagnosis]]. | ||
* Presence of Y | * Presence of [[Y chromosome|Y chromosom]]<nowiki/>al content in phenotypically female individuals is the clue to the diagnosis. | ||
* In phenotypically male individuals suspected of intersexual disorder, the regular ultrasound imaging may help in the diagnosis. | * In phenotypically male 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 | * Although helpful, a normal karyotype analysis can not exclude the presence of [[Y chromosome|Y chromosom]]<nowiki/>al 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 clinical significance of undetermined. | ||
Although very uncommon, gonadoblastoma can affect genotypically normal individuals as well. | Although very uncommon, gonadoblastoma can 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. | * In this setting, [[ultrasound imaging]] studies in individuals complaining of [[testicular]]/lower [[abdominal mass]] or discomfort may reveal the presence of the [[tumor]]. | ||
=== Name of Diagnostic Criteria === | === Name of Diagnostic Criteria === | ||
Gonadoblastoma is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of gonadoblastoma. | Gonadoblastoma is primarily diagnosed based on clinical presentation. There are no established [[criteria]] for the [[diagnosis]] of gonadoblastoma. | ||
==References== | ==References== | ||
Revision as of 21:48, 18 February 2019
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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. Any clue to the presence of an intersex gonadal abnormality (gonadal dysgenesis) should raise the concern for the coexisting gonadoblastoma. Chromosomal analysis plays the most beneficial role in the diagnosis of conditions associated with gonadoblastoma. It can be used as the screening test in the infants with external genitalia ambiguity and later in life for individuals suspected of intersex disorders. Since the presence of Y chromosomal content in individuals with dysgenetic gonads strongly suggests the development of gonadoblastoma in those with gonadal abnormalities, a karyotype analysis showing Y chromosome is helpful for diagnosis. 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 when:[1]
- The patient presented with ambiguous genitalia or abnormal sexual developmental disorders as the first step of diagnosis.
- Presence of Y chromosomal content in phenotypically female individuals is the clue to the diagnosis.
- In phenotypically male 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 clinical significance of undetermined.
Although very uncommon, gonadoblastoma can 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.
Name of Diagnostic Criteria
Gonadoblastoma is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of gonadoblastoma.
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.