Gonadoblastoma overview: Difference between revisions
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==Overview== | ==Overview== | ||
Gonadoblastoma is a [[benign tumor]] that almost exclusively involves individuals suspected of [[Intersexuality|intersex disorders]]. This [[tumor]] comprised of underdeveloped [[germ cells]] and sex-cord stromal cells which defines the term gonadoblastoma. | |||
==Historical Perspective== | ==Historical Perspective== | ||
Gonadoblastoma was first discovered by Dr. Scully in 1953. The association between GBY gene (GonadoBlastoma on the Y chromosome) and gonadoblastoma was made in 1986. In 1995, Tsuchiya found that the GBY gene located near the [[centromere]] of [[Y chromosome]] and contains multiple [[gene]]<nowiki/>s including Testis-specific protein Y-encoded (TSPY) gene. | Gonadoblastoma was first discovered by Dr. Scully in 1953. The association between GBY [[gene]] (GonadoBlastoma on the Y chromosome) and gonadoblastoma was made in 1986. In 1995, Tsuchiya found that the GBY [[gene]] located near the [[centromere]] of [[Y chromosome]] and contains multiple [[gene]]<nowiki/>s including Testis-specific protein Y-encoded (TSPY) gene. | ||
==Classification== | ==Classification== | ||
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==Causes== | ==Causes== | ||
There are no established causes for gonadoblastoma. However, there are certain risk factors that predispose to increased risk of gonadoblastoma. | There are no established [[causes]] for gonadoblastoma. However, there are certain [[risk factors]] that predispose to increased risk of gonadoblastoma. | ||
==Differentiating | ==Differentiating Gonadoblastoma from Other Diseases== | ||
Gonadoblastoma must be differentiated from other [[diseases]] that cause [[virilization]], and [[primary amenorrhea]] and also must be differentiated [[Pathological|pathologically]] from [[dysgerminoma]], [[Sex-cord]] stromal [[tumors]], and [[Sertoli-cell]] [[nodules]]. | Gonadoblastoma must be differentiated from other [[diseases]] that cause [[virilization]], and [[primary amenorrhea]] and also must be differentiated [[Pathological|pathologically]] from [[dysgerminoma]], [[Sex-cord]] stromal [[tumors]], and [[Sertoli-cell]] [[nodules]]. | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
The [[prevalence]] of gonadoblastoma depends on the [[Chromosome|chromosomal]] content, presence or absence of [[mosaicism]], gonadal [[histology]], and age of the patient and varies between 15,000 to 30,000 per 100,000 individuals worldwide. The [[incidence]] of gonadoblastoma varies according to the presence or absence of [[Y chromosome|Y chromosomal]] content and age of the individual. Patients with [[Turner syndrome]] who have [[Y chromosome|Y chromosomal]] content either completely or partially may develop gonadoblastoma with an [[incidence]] as high as 43,000 per 100,000 individuals worldwide. The [[incidence]] of gonadoblastoma among [[phenotypical]] [[females]] with XY [[gonadal]] [[abnormalities]] have been observed to be 40,000 per 100,000 individuals worldwide. Gonadoblastoma may be found at any age, but commonly presents before the age of 15 years. Since, it usually affects individuals with [[gonadal dysgenesis]], there is no [[genotype]]-[[phenotype]] [[correlation]]. [[Phenotype|Phenotypically]], it tends to affect [[female]] individuals to a greater extent. | |||
==Risk Factors== | ==Risk Factors== | ||
The most potent [[risk factor]] in the development of gonadoblastoma is [[gonadal dysgenesis]]. The [[risk]] also increases with [[age]]. | |||
==Screening== | ==Screening== | ||
There is insufficient [[evidence]] to recommend routine [[screening]] for gonadoblastoma. However, patients with XY [[gonadal]] [[abnormalities]] should be followed using [[sonography]] starting at [[age]] 2, every six months, until the [[gonads]] are removed. | |||
==Natural History, Complications, and Prognosis== | ==Natural History, Complications, and Prognosis== | ||
Gonadoblastoma per se is a [[benign tumor]], however, it has the capacity to convert to [[dysgerminoma]] or other more [[malignant]] [[Germ cell tumor|germ cell tumors]] and produce [[steroids]] with resultant [[virilization]]. [[Prognosis]] is generally excellent after removing the [[tumor]]. | |||
==Diagnosis== | ==Diagnosis== | ||
===Diagnostic Study of Choice=== | ===Diagnostic Study of Choice=== | ||
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 [[Karyotype|karyotypically]]. In theses individuals, [[molecular]] analysis of [[chromosomes]] using [[polymerase chain reaction]] ([[PCR]]) and/or [[fluorescence in situ hybridization]] ([[FISH]]) may be helpful. | |||
===History and Symptoms=== | ===History and Symptoms=== | ||
Patients with gonadoblastoma present either during [[infancy]] with [[ambiguous genitalia]] or later with [[sexual]] developmental complaints. The [[hallmark]] of gonadoblastoma is [[Gonadal|gonada]]<nowiki/>l [[developmental disorders]]. | |||
===Physical Examination=== | ===Physical Examination=== | ||
Gonadoblastoma has no characteristic [[Physical Examination|physical]] [[feature]], however, any clue to the existence of an [[intersex]] [[disorder]] must raise the concern for [[Diagnosis|diagnosing]] the coexisting gonadoblastoma. | |||
===Laboratory Findings=== | ===Laboratory Findings=== | ||
Gonadoblastoma has no [[specific]] [[laboratory]] findings. | |||
===Electrocardiogram=== | |||
There are no [[ECG]] findings associated with gonadoblastoma. | |||
===X-ray=== | ===X-ray=== | ||
An [[Abdominal|abdominal/]][[pelvic]] [[X-ray]] may be helpful in the [[diagnosis]] of [[calcification]] in the [[gonads]] associated with gonadoblastoma. | |||
===Ultrasound=== | ===Ultrasound=== | ||
There are no [[ultrasound]] findings associated with gonadoblastoma. However, an [[ultrasound]] may be helpful in the evaluation of a [[mass]] in the [[gonads]] and the exclusion of associated [[conditions]]. | |||
===CT scan=== | ===CT scan=== | ||
There are no characteristic [[CT scan]] or [[MRI]] findings associated with gonadoblastoma. However, an [[imaging]] study may be helpful in the [[diagnosis]] of associated [[conditions]] of this [[disorder]], which include [[gonadal dysgenesis]], [[Turner syndrome]], and etc. | |||
===MRI=== | ===MRI=== | ||
[[MRI]] is usually not indicated for the [[diagnosis]] of gonadoblastoma. | |||
===Other Imaging Findings=== | ===Other Imaging Findings=== | ||
There are no other [[imaging]] findings associated with gonadoblastoma. | |||
===Other Diagnostic Studies=== | ===Other Diagnostic Studies=== | ||
There are no other [[Diagnosis|diagnostic studies]] associated with gonadoblastoma. | |||
==Treatment== | ==Treatment== | ||
===Medical Therapy=== | ===Medical Therapy=== | ||
The mainstay of treatment for gonadoblastoma is [[surgery]]. [[Hormonal replacement therapy]] may be considered depending on the underlying [[condition]]. | |||
===Surgery=== | ===Surgery=== | ||
[[Surgery]] is the mainstay of treatment for gonadoblastoma. It should be removed as soon as it is diagnosed. | |||
===Primary Prevention=== | ===Primary Prevention=== | ||
There are no established measures for the [[primary prevention]] of gonadoblastoma. | |||
===Secondary Prevention=== | ===Secondary Prevention=== | ||
There are no established measures for the [[secondary prevention]] of gonadoblastoma. | |||
==References== | ==References== | ||
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{{WikiDoc Help Menu}} | {{WikiDoc Help Menu}} | ||
{{WikiDoc Sources}} | {{WikiDoc Sources}} | ||
[[Category:Medicine]] | [[Category:Medicine]] | ||
[[Category:Oncology]] | [[Category:Oncology]] | ||
[[Category:Gynecology]] | [[Category:Gynecology]] | ||
[[Category:Up-To-Date]] | [[Category:Up-To-Date]] | ||
Latest revision as of 22:49, 16 September 2021
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Gonadoblastoma Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Gonadoblastoma overview On the Web |
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American Roentgen Ray Society Images of Gonadoblastoma overview |
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Risk calculators and risk factors for Gonadoblastoma overview |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
Overview
Gonadoblastoma is a benign tumor that almost exclusively involves individuals suspected of intersex disorders. This tumor comprised of underdeveloped germ cells and sex-cord stromal cells which defines the term gonadoblastoma.
Historical Perspective
Gonadoblastoma was first discovered by Dr. Scully in 1953. The association between GBY gene (GonadoBlastoma on the Y chromosome) and gonadoblastoma was made in 1986. In 1995, Tsuchiya found that the GBY gene located near the centromere of Y chromosome and contains multiple genes including Testis-specific protein Y-encoded (TSPY) gene.
Classification
Gonadoblastoma may be classified according to pathological appearance into three sub-types including classical, dissecting, and burnt-out.
Pathophysiology
The exact pathogenesis of gonadoblastoma is not fully understood. Gonadal development starts at 5 weeks of gestation and continues according to sex chromosomes. Any defects in this complicated process leads to defective gonadal development and gonadal dysgenesis and subsequently, it may be converted to gonadoblastoma in 20% to 30% of the cases.
Causes
There are no established causes for gonadoblastoma. However, there are certain risk factors that predispose to increased risk of gonadoblastoma.
Differentiating Gonadoblastoma from Other Diseases
Gonadoblastoma must be differentiated from other diseases that cause virilization, and primary amenorrhea and also must be differentiated pathologically from dysgerminoma, Sex-cord stromal tumors, and Sertoli-cell nodules.
Epidemiology and Demographics
The prevalence of gonadoblastoma depends on the chromosomal content, presence or absence of mosaicism, gonadal histology, and age of the patient and varies between 15,000 to 30,000 per 100,000 individuals worldwide. The incidence of gonadoblastoma varies according to the presence or absence of Y chromosomal content and age of the individual. Patients with Turner syndrome who have Y chromosomal content either completely or partially may develop gonadoblastoma with an incidence as high as 43,000 per 100,000 individuals worldwide. The incidence of gonadoblastoma among phenotypical females with XY gonadal abnormalities have been observed to be 40,000 per 100,000 individuals worldwide. Gonadoblastoma may be found at any age, but commonly presents before the age of 15 years. Since, it usually affects individuals with gonadal dysgenesis, there is no genotype-phenotype correlation. Phenotypically, it tends to affect female individuals to a greater extent.
Risk Factors
The most potent risk factor in the development of gonadoblastoma is gonadal dysgenesis. The risk also increases with age.
Screening
There is insufficient evidence to recommend routine screening for gonadoblastoma. However, patients with XY gonadal abnormalities should be followed using sonography starting at age 2, every six months, until the gonads are removed.
Natural History, Complications, and Prognosis
Gonadoblastoma per se is a benign tumor, however, it has the capacity to convert to dysgerminoma or other more malignant germ cell tumors and produce steroids with resultant virilization. Prognosis is generally excellent after removing the tumor.
Diagnosis
Diagnostic Study of Choice
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.
History and Symptoms
Patients with gonadoblastoma present either during infancy with ambiguous genitalia or later with sexual developmental complaints. The hallmark of gonadoblastoma is gonadal developmental disorders.
Physical Examination
Gonadoblastoma has no characteristic physical feature, however, any clue to the existence of an intersex disorder must raise the concern for diagnosing the coexisting gonadoblastoma.
Laboratory Findings
Gonadoblastoma has no specific laboratory findings.
Electrocardiogram
There are no ECG findings associated with gonadoblastoma.
X-ray
An abdominal/pelvic X-ray may be helpful in the diagnosis of calcification in the gonads associated with gonadoblastoma.
Ultrasound
There are no ultrasound findings associated with gonadoblastoma. However, an ultrasound may be helpful in the evaluation of a mass in the gonads and the exclusion of associated conditions.
CT scan
There are no characteristic CT scan or MRI findings associated with gonadoblastoma. However, an imaging study may be helpful in the diagnosis of associated conditions of this disorder, which include gonadal dysgenesis, Turner syndrome, and etc.
MRI
MRI is usually not indicated for the diagnosis of gonadoblastoma.
Other Imaging Findings
There are no other imaging findings associated with gonadoblastoma.
Other Diagnostic Studies
There are no other diagnostic studies associated with gonadoblastoma.
Treatment
Medical Therapy
The mainstay of treatment for gonadoblastoma is surgery. Hormonal replacement therapy may be considered depending on the underlying condition.
Surgery
Surgery is the mainstay of treatment for gonadoblastoma. It should be removed as soon as it is diagnosed.
Primary Prevention
There are no established measures for the primary prevention of gonadoblastoma.
Secondary Prevention
There are no established measures for the secondary prevention of gonadoblastoma.