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| {{SK}} Gonadoblastomas; Gonadoblastomata; Sex cord stromal tumor | | {{SK}} Gonadoblastomas; Gonadoblastomata; Sex cord stromal tumor |
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| ==Overview==
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| ==Historical Perspective== | | ==[[Gonadoblastoma overview|Overview]]== |
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| Gonadoblastoma was first discovered by Dr. Robert E. Scully, an American pathologist, in 1953 following studying the pathology of a series of tumors suspected of being [[Dysgerminoma|dysgerminomas]]. This tumor is called gonadoblastoma since it looks like embryonic tissue, but in an indifferent way regarding sexual development.<ref name="Scully1953">{{cite journal|last1=Scully|first1=Robert E.|title=Gonadoblastoma. A gonadal tumor related to the dysgerminoma (Seminoma) and capable of sex-hormone production|journal=Cancer|volume=6|issue=3|year=1953|pages=455–463|issn=0008-543X|doi=10.1002/1097-0142(195305)6:3<455::AID-CNCR2820060303>3.0.CO;2-U}}</ref><ref name="pmid4193741">{{cite journal| author=Scully RE| title=Gonadoblastoma. A review of 74 cases. | journal=Cancer | year= 1970 | volume= 25 | issue= 6 | pages= 1340-56 | pmid=4193741 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4193741 }} </ref>
| | ==[[Gonadoblastoma historical perspective|Historical Perspective]]== |
| The association between GBY gene (GonadoBlastoma on Y chromosome) and gonadoblastoma was made in 1986. Page hypothesized that the GBY gene predispose the gonads with disgenetic abnormality to gonadoblastoma development, however, it plays a physiologic role in normal male.<ref name="pmid3503713">{{cite journal |vauthors=Page DC |title=Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads |journal=Development |volume=101 Suppl |issue= |pages=151–5 |date=1987 |pmid=3503713 |doi= |url=}}</ref>
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| 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.<ref name="pmid8533770">{{cite journal |vauthors=Tsuchiya K, Reijo R, Page DC, Disteche CM |title=Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome |journal=Am. J. Hum. Genet. |volume=57 |issue=6 |pages=1400–7 |date=December 1995 |pmid=8533770 |pmc=1801429 |doi= |url=}}</ref>
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| ==Classification== | | ==[[Gonadoblastoma classification|Classification]]== |
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| Gonadoblastoma may be classified according to its pathologic features into following forms:<ref name="UlbrightYoung2014">{{cite journal|last1=Ulbright|first1=Thomas M.|last2=Young|first2=Robert H.|title=Gonadoblastoma and selected other aspects of gonadal pathology in young patients with disorders of sex development|journal=Seminars in Diagnostic Pathology|volume=31|issue=5|year=2014|pages=427–440|issn=07402570|doi=10.1053/j.semdp.2014.07.001}}</ref>
| | ==[[Gonadoblastoma pathophysiology|Pathophysiology]]== |
| *Classical
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| *Dissecting
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| *Burnt-out
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| ==Pathophysiology and Associated Conditions== | | ==[[Gonadoblastoma causes|Causes]]== |
| The exact pathogenesis of gonadoblastoma is not fully understood. Gonadal development starts at 5 weeks of [[gestation]] and continues according to sex chromosomal contents. Any defects in this complicated process lead to defective gonadal development and [[gonadal dysgenesis]] and subsequently, it can be converted to gonadoblastoma in 20% to 30% of the cases. <ref>{{cite book | last = Carcangiu | first = M. L. | title = WHO Classification of Tumours of Female Reproductive Organs | publisher = International Agency for Research on Cancer | location = Lyon | year = 2014 | isbn = 978-9283224358 }}</ref><ref name="pmid16608895">{{cite journal |vauthors=Cools M, Stoop H, Kersemaekers AM, Drop SL, Wolffenbuttel KP, Bourguignon JP, Slowikowska-Hilczer J, Kula K, Faradz SM, Oosterhuis JW, Looijenga LH |title=Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads |journal=J. Clin. Endocrinol. Metab. |volume=91 |issue=6 |pages=2404–13 |date=June 2006 |pmid=16608895 |doi=10.1210/jc.2005-2554 |url=}}</ref> Gonadoblastoma develop almost exclusively in dysgenetic gonads containing the Y chromosomal contents. The GBY gene locus, localized near the [[centromere]] of the Y chromosome, is hypothesized to be the culprit gene in the [[pathogenesis]] of gonadoblastoma. TSPY gene product is observed to be overexpressed in the gonadoblastoma and other [[germ cell tumors]], although its exact role is still unclear.<ref name="KidoLau2008">{{cite journal|last1=Kido|first1=Tatsuo|last2=Lau|first2=Yun-Fai Chris|title=The human Y-encoded testis-specific protein interacts functionally with eukaryotic translation elongation factor eEF1A, a putative oncoprotein|journal=International Journal of Cancer|volume=123|issue=7|year=2008|pages=1573–1585|issn=00207136|doi=10.1002/ijc.23697}}</ref>
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| Gonadoblastoma occurs bilaterally in 50% of the cases. It can be accompanied by [[dysgerminoma]] in 50% of cases as well as with other more malignant germinomatous neoplasms in 10%.<ref name="978-0-323-40067-1">{{cite book | last = Saia | first = Philip | title = Clinical gynecologic oncology | publisher = Elsevier | location = Philadelphia, PA | year = 2018 | isbn = 978-0-323-40067-1 }}</ref> | |
| Other conditions associated with gonadoblastoma are as follows:
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| *[[Frasier syndrome]]<ref name="urlEmery and Rimoins Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications by Reed E. Pyeritz M.D., Ph.D., FACP, FACMG | | NOOK Book (eBook) | Barnes & Noble®">{{cite web |url=https://www.barnesandnoble.com/w/emery-and-rimoins-principles-and-practice-of-medical-genetics-and-genomics-reed-e-pyeritz/1128560551?ean=9780128126844&msclkid=798cf38fc54f1747fe0fafd63339330f&st=PLA&sid=BNB_NOOK%20EBooks&sourceId=PLABiNA&dpid=tdtve346c&2sid=Bing_c&adlclid=ADL-c79ff15c-1619-4346-85f6-a6bedd319476 |title=Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications by Reed E. Pyeritz M.D., Ph.D., FACP, FACMG | | NOOK Book (eBook) | Barnes & Noble® |format= |work= |accessdate=}}</ref>
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| *XY [[gonadal dysgenesis]]
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| *[[WAGR syndrome]]
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| *[[Swyer syndrome]]
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| *[[9p partial monosomy]]
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| ==Gross Pathology== | | ==[[Gonadoblastoma differential diagnosis|Differentiating Gonadoblastoma from other Diseases]]== |
| Gross pathology of tumor greatly depends on the degree of germ cells overgrowth and [[calcification]]. The tumor is firm and cartilaginous with a yellow to a brown-grey color. It can be calcified partly or almost completely. It can be very large especially with when ccompanied by a [[dysgerminoma]] or be hardly detectable in gross examination.<ref name="pmid4193741">{{cite journal| author=Scully RE| title=Gonadoblastoma. A review of 74 cases. | journal=Cancer | year= 1970 | volume= 25 | issue= 6 | pages= 1340-56 | pmid=4193741 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4193741 }} </ref>
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| ==Microscopic Pathology== | | ==[[Gonadoblastoma epidemiology and demographics|Epidemiology and Demographics]]== |
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| {| align="right"
| | ==[[Gonadoblastoma risk factors|Risk Factors]]== |
| |[[File:1280px-Gonadoblastoma - low mag.jpg|thumb|none|300px|Microscopic pathology of gonadoblastoma [https://commons.wikimedia.org/wiki/File:Gonadoblastoma_-_b_-_high_mag.jpg Source:Wikimedia Commons] ]]
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| |}
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| Gonadoblastoma is formed from two different types of cells: larger cells resembling immature [[germ cells]] and smaller cells resembling the [[sex-cord stroma]] ([[Granulosa]] or Sertoli-like cells). another kind of stromal cells ([[Leydig cell|Leydig cells]] or Lutein-like cells) can also exist, but their presence is not essential for the diagnosis. The two essential type of cells forms a nest-like space in which, immature germ cells surrounded by sex-cord stromal cells. This nested arrangement is characteristic of gonadoblastoma. The Leydig-like cells, large polygonal cells in the interstitium, tend to be present greatly after puberty. The nest is encircled by a [[basement membrane]] which can be hyalinized or even calcified. [[Calcification]] can be focal or extensive. Focal calcification is found in more than 80% of the individuals. The nodular pattern of hyalinized [[basement membrane]] encircled by stromal cells can also be present. [[Germ cells]] within the tumor have varied degrees of [[atypia]] and they must be differentiated from the simultaneous invasive germ cell tumor.<ref name="CoolsStoop2006">{{cite journal|last1=Cools|first1=Martine|last2=Stoop|first2=Hans|last3=Kersemaekers|first3=Anne-Marie F.|last4=Drop|first4=Stenvert L. S.|last5=Wolffenbuttel|first5=Katja P.|last6=Bourguignon|first6=Jean-Pierre|last7=Slowikowska-Hilczer|first7=Jolanta|last8=Kula|first8=Krzysztof|last9=Faradz|first9=Sultana M. H.|last10=Oosterhuis|first10=J. Wolter|last11=Looijenga|first11=Leendert H. J.|title=Gonadoblastoma Arising in Undifferentiated Gonadal Tissue within Dysgenetic Gonads|journal=The Journal of Clinical Endocrinology & Metabolism|volume=91|issue=6|year=2006|pages=2404–2413|issn=0021-972X|doi=10.1210/jc.2005-2554}}</ref>
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| Gonadoblastoma classified pathologically into three forms:<ref name="pmid4193741">{{cite journal |vauthors=Scully RE |title=Gonadoblastoma. A review of 74 cases |journal=Cancer |volume=25 |issue=6 |pages=1340–56 |date=June 1970 |pmid=4193741 |doi= |url=}}</ref><ref name="UlbrightYoung2014">{{cite journal|last1=Ulbright|first1=Thomas M.|last2=Young|first2=Robert H.|title=Gonadoblastoma and selected other aspects of gonadal pathology in young patients with disorders of sex development|journal=Seminars in Diagnostic Pathology|volume=31|issue=5|year=2014|pages=427–440|issn=07402570|doi=10.1053/j.semdp.2014.07.001}}</ref>
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| *Classical form which is described above thoroughly.
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| *Burnt-out form, in which the cells regress and the remnant is calcified and forms a mulberry-shaped [[calcification]].
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| *Dissecting form which has a infiltrative and cord like pattern rather than a nested arrangement. The clinical relevance of this pathologic feature is that, it should be differentiated from [[germinoma]].<ref name="KaoIdrees2016">{{cite journal|last1=Kao|first1=Chia-Sui|last2=Idrees|first2=Muhammad T.|last3=Young|first3=Robert H.|last4=Ulbright|first4=Thomas M.|title=“Dissecting Gonadoblastoma” of Scully|journal=The American Journal of Surgical Pathology|volume=40|issue=10|year=2016|pages=1417–1423|issn=0147-5185|doi=10.1097/PAS.0000000000000704}}</ref>
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| ==Causes== | | ==[[Gonadoblastoma screening|Screening]]== |
| The following disorders are associated with the development of gonadoblastoma.<ref name="MilewiczMrozińska2016">{{cite journal|last1=Milewicz|first1=Tomasz|last2=Mrozińska|first2=Sandra|last3=Szczepański|first3=Wojciech|last4=Białas|first4=Magdalena|last5=Kiałka|first5=Marta|last6=Doroszewska|first6=Katarzyna|last7=Kabzińska-Turek|first7=Monika|last8=Wojtyś|first8=Andrzej|last9=Ludwin|first9=Artur|last10=Chmura|first10=Łukasz|title=Dysgerminoma and gonadoblastoma in the course of Swyer syndrome|journal=Polish Journal of Pathology|volume=4|year=2016|pages=411–414|issn=1233-9687|doi=10.5114/pjp.2016.65876}}</ref>
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| <ref name="QuinonezPark2013">{{cite journal|last1=Quinonez|first1=Shane C.|last2=Park|first2=John M.|last3=Rabah|first3=Raja|last4=Owens|first4=Kailey M.|last5=Yashar|first5=Beverly M.|last6=Glover|first6=Thomas W.|last7=Keegan|first7=Catherine E.|title=9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism|journal=American Journal of Medical Genetics Part A|volume=161|issue=8|year=2013|pages=1882–1896|issn=15524825|doi=10.1002/ajmg.a.36018}}</ref><ref name="urlYen & Jaffes Reproductive Endocrinology | ScienceDirect">{{cite web |url=https://www.sciencedirect.com/book/9781455727582/yen-and-jaffes-reproductive-endocrinology |title=Yen & Jaffe's Reproductive Endocrinology | ScienceDirect |format= |work= |accessdate=}}</ref><ref name="PatelPappas2013">{{cite journal|last1=Patel|first1=Payal R.|last2=Pappas|first2=John|last3=Arva|first3=Nicoleta C.|last4=Franklin|first4=Bonita|last5=Brar|first5=Preneet Cheema|title=Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy|journal=Journal of Pediatric Endocrinology and Metabolism|volume=26|issue=9-10|year=2013|issn=2191-0251|doi=10.1515/jpem-2012-0409}}</ref>
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| *XY [[gonadal dysgenesis]]
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| *[[Frasier syndrome]]
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| *[[WAGR syndrome]]
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| *[[Swyer syndrome]]
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| *[[9p partial monosomy]]
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| ==Differentiating Gonadoblastoma from Other Diseases== | | ==[[Gonadoblastoma natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| Gonadoblastoma must be differentiated patholigically from theses tumors:<ref name="978-1-4557-4858-7">{{cite book | last = Sperling | first = M | title = Pediatric endocrinology | publisher = Elsevier/Saunders | location = Philadelphia, PA | year = 2014 | isbn = 978-1-4557-4858-7 }}</ref><ref>{{cite book | last = Eble | first = John | title = Pathology and genetics of tumours of the urinary system and male genital organs | publisher = IARC Press Oxford University Press (distributor | location = Lyon Oxford | year = 2004 | isbn = 9283224159 }}</ref>
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| *[[dysgerminoma]]
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| *Sex-cord stromal tumors
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| *Sertoli-cell nodules
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| Since this tumor may cause virilization or associate with gonadal dysgenesis, it must be differentiated clinically from:
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| ==Epidemiology and Demographics==
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| The [[prevalence]] of gonadoblastoma varied depend on the chromosomal content, presence or absence of [[mosaicism]], gonadal histology and age of the patient between 15% to 30%.<ref name="urlYen & Jaffes Reproductive Endocrinology | ScienceDirect">{{cite web |url=https://www.sciencedirect.com/book/9781455727582/yen-and-jaffes-reproductive-endocrinology#book-info |title=Yen & Jaffe's Reproductive Endocrinology | ScienceDirect |format= |work= |accessdate=}}</ref> The [[incidence]] of gonadoblastoma varied 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 can develop gonadoblastoma with an incidence as high as 43%.<ref name="pmid16600779">{{cite journal |vauthors=Brant WO, Rajimwale A, Lovell MA, Travers SH, Furness PD, Sorensen M, Oottamasathien S, Koyle MA |title=Gonadoblastoma and Turner syndrome |journal=J. Urol. |volume=175 |issue=5 |pages=1858–60 |date=May 2006 |pmid=16600779 |doi=10.1016/S0022-5347(05)00932-8 |url=}}</ref> Phenotypical female with XY gonadal abnormalities have been observed to develop gonadoblastoma by 40%.<ref name="978-1-4557-4858-7">{{cite book | last = Sperling | first = M | title = Pediatric endocrinology | publisher = Elsevier/Saunders | location = Philadelphia, PA | year = 2014 | isbn = 978-1-4557-4858-7 }}</ref>
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| Gonadoblastoma affects individuals of any age but tends to present at a greater extent prior to 15 years of age. it commonly originated from dysgenetic gonad but has been seen in women with normal ovary and karyotypes, although rarely. Since this tumor affects gonads, there is no genotype-phenotype correlations. The majority of affected individuals appear phenotypically female, but in reality, they are intersex.<ref name="pmid4193741">{{cite journal| author=Scully RE| title=Gonadoblastoma. A review of 74 cases. | journal=Cancer | year= 1970 | volume= 25 | issue= 6 | pages= 1340-56 | pmid=4193741 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4193741 }} </ref>
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| There is no racial predilection to gonadoblastoma.
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| ==Risk Factors==
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| The most potent risk factor in the development of gonadoblastoma is [[gonadal dysgenesis]]. The risk of gonadoblastoma development increases with age. In individuals with XY gonadal abnormalities, it reaches 30% by thirty years of age. Other risk factors include being affected with [[Turner syndrome]], and having Y chromosome materials. There are some rare reports of gonadoblastoma development in patients with 46 XX [[karyotype]] that suggest the presence of unknown pathophysiological mechanisms for this tumor.<ref name="EsinBaser2011">{{cite journal|last1=Esin|first1=Sertac|last2=Baser|first2=Eralp|last3=Kucukozkan|first3=Tuncay|last4=Magden|first4=Hasim Ata|title=Ovarian gonadoblastoma with dysgerminoma in a 15-year-old girl with 46, XX karyotype: case report and review of the literature|journal=Archives of Gynecology and Obstetrics|volume=285|issue=2|year=2011|pages=447–451|issn=0932-0067|doi=10.1007/s00404-011-2073-9}}</ref>
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| <ref name="978-1-4557-4858-7">{{cite book | last = Sperling | first = M | title = Pediatric endocrinology | publisher = Elsevier/Saunders | location = Philadelphia, PA | year = 2014 | isbn = 978-1-4557-4858-7 }}</ref>
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| ==Screening==
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| 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 gonad can be removed.<ref name="urlYen & Jaffes Reproductive Endocrinology | ScienceDirect">{{cite web |url=https://www.sciencedirect.com/book/9781455727582/yen-and-jaffes-reproductive-endocrinology |title=Yen & Jaffe's Reproductive Endocrinology | ScienceDirect |format= |work= |accessdate=}}</ref>
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| ==Natural History, Complications, and Prognosis==
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| 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]].<ref name="978-1-4557-4858-7">{{cite book | last = Sperling | first = M | title = Pediatric endocrinology | publisher = Elsevier/Saunders | location = Philadelphia, PA | year = 2014 | isbn = 978-1-4557-4858-7 }}</ref> If complicated by an invasive germ cell tumor, then prognosis depends on the staging of the tumor.<ref name="978-0-323-40067-1">{{cite book | last = Saia | first = Philip | title = Clinical gynecologic oncology | publisher = Elsevier | location = Philadelphia, PA | year = 2018 | isbn = 978-0-323-40067-1 }}</ref>
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| ==Diagnosis== | | ==Diagnosis== |
| ===Diagnostic Study of Choice===
| | [[Gonadoblastoma diagnostic study of choice|Diagnostic study of choice]] | [[Gonadoblastoma history and symptoms|History and Symptoms]] | [[Gonadoblastoma physical examination|Physical Examination]] | [[Gonadoblastoma laboratory findings|Laboratory Findings]] | [[Gonadoblastoma electrocardiogram|Electrocardiogram]] | [[Gonadoblastoma x ray|X-Ray Findings]] | [[Gonadoblastoma echocardiography and ultrasound|Echocardiography and Ultrasound]] | [[Gonadoblastoma CT scan|CT-Scan Findings]] | [[Gonadoblastoma MRI|MRI Findings]] | [[Gonadoblastoma other imaging findings|Other Imaging Findings]] | [[Gonadoblastoma other diagnostic studies|Other Diagnostic Studies]] |
| 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.<ref name="urlYen & Jaffes Reproductive Endocrinology | ScienceDirect">{{cite web |url=https://www.sciencedirect.com/book/9781455727582/yen-and-jaffes-reproductive-endocrinology |title=Yen & Jaffe's Reproductive Endocrinology | ScienceDirect |format= |work= |accessdate=}}</ref>
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| ===History and Symptoms===
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| Patients with gonadoblastoma present either during infancy with ambiguous genitalia or later with sexual developmental complaints. The hallmark of gonadoblastoma is gonadal developmental disorders. The majority of affected individuals are phenotypically women and may be discovered during a workup for [[virilization]] and/or [[primary amenorrhea]]. Others are phenotypically men with sex organs developmental problems such as [[cryptorchidism]] and [[hypospadias]].<ref name="978-0-323-40067-1">{{cite book | last = Saia | first = Philip | title = Clinical gynecologic oncology | publisher = Elsevier | location = Philadelphia, PA | year = 2018 | isbn = 978-0-323-40067-1 }}</ref> Although very rarely, gonadoblastoma has been found in anatomically normal male individuals. In this individuals, it may present with a sense of discomfort or pain in testicles.<ref name="pmid2231948">{{cite journal |vauthors=Chapman WH, Plymyer MR, Dresner ML |title=Gonadoblastoma in an anatomically normal man: a case report and literature review |journal=J. Urol. |volume=144 |issue=6 |pages=1472–4 |date=December 1990 |pmid=2231948 |doi= |url=}}</ref>
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| ===Physical Examination===
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| Gonadoblastoma has no characteristic physical feature, however, any clue to existence of an [[intersex disorder]] must raise the concern for diagnosing the coexisting gonadoblastoma. Patients with gonadoblastoma can appear phenotypically female or male. It is of particular note that clinical presentation may be varied considering the nature of abnormal gonad and the amount of steroid hormone in it.
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| In phenotypic women, physical examination of patients can be remarkable for virilization or the presence of a [[Pelvic masses|pelvic mass]].In phenotypic men, physical examination suggestive of gonadoblastoma are undescended testis and [[hypospadias]].
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| <ref name="pmid4193741">{{cite journal| author=Scully RE| title=Gonadoblastoma. A review of 74 cases. | journal=Cancer | year= 1970 | volume= 25 | issue= 6 | pages= 1340-56 | pmid=4193741 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4193741 }} </ref><ref name="978-0-323-40067-1">{{cite book | last = Saia | first = Philip | title = Clinical gynecologic oncology | publisher = Elsevier | location = Philadelphia, PA | year = 2018 | isbn = 978-0-323-40067-1 }}</ref>
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| ===Laboratory Findings===
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| 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 disgenetic 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 can not be diagnosed karyotypically. In theses individuals, molecular analysis of chromosomes using [[polymerase chain reaction]] (PCR) and/or [[fluorescence in situ hybridization]] (FISH) are suggested.<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>
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| Some patients with gonadoblastoma may have elevated concentration of [[human chorionic gonadotropin]] (hCG), which is usually suggestive of [[dysgerminoma]].<ref name="EsinBaser2011">{{cite journal|last1=Esin|first1=Sertac|last2=Baser|first2=Eralp|last3=Kucukozkan|first3=Tuncay|last4=Magden|first4=Hasim Ata|title=Ovarian gonadoblastoma with dysgerminoma in a 15-year-old girl with 46, XX karyotype: case report and review of the literature|journal=Archives of Gynecology and Obstetrics|volume=285|issue=2|year=2011|pages=447–451|issn=0932-0067|doi=10.1007/s00404-011-2073-9}}</ref>
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| Gonadoblastoma has no specific laboratory feature, however, some immunohistochemistry staining can be positive including:<ref name="978-1-4557-4858-7">{{cite book | last = Sperling | first = M | title = Pediatric endocrinology | publisher = Elsevier/Saunders | location = Philadelphia, PA | year = 2014 | isbn = 978-1-4557-4858-7 }}</ref><ref name="KaoUlbright2014">{{cite journal|last1=Kao|first1=Chia-Sui|last2=Ulbright|first2=Thomas M|last3=Idrees|first3=Muhammad T|title=Gonadoblastoma: an immunohistochemical study and comparison to Sertoli cell nodule with intratubular germ cell neoplasia, with pathogenetic implications|journal=Histopathology|volume=65|issue=6|year=2014|pages=861–867|issn=03090167|doi=10.1111/his.12444}}</ref> | |
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| *TSPY
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| *OCT3/4
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| *FoxL
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| *SF-1
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| *Sox9
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| ===X-ray===
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| An abdominal x-ray may be helpful in the diagnosis of [[calcification]] in the gonads associated with gonadoblastoma. If the tumor is calcified a characteristic confined spotty pattern can be observed radiographically. This finding may be unilateral or bilateral.<ref name="urlYen & Jaffes Reproductive Endocrinology | ScienceDirect">{{cite web |url=https://www.sciencedirect.com/book/9781455727582/yen-and-jaffes-reproductive-endocrinology |title=Yen & Jaffe's Reproductive Endocrinology | ScienceDirect |format= |work= |accessdate=}}</ref><ref name="SeymourHood1976">{{cite journal|last1=Seymour|first1=EQ|last2=Hood|first2=JB|last3=Underwood|first3=PB|last4=Williamson|first4=HO|title=Gonadoblastoma: an ovarian tumor with characteristic pelvic calcifications|journal=American Journal of Roentgenology|volume=127|issue=6|year=1976|pages=1001–1002|issn=0361-803X|doi=10.2214/ajr.127.6.1001}}</ref>
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| ===Ultrasound===
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| 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. In one study, sonographic findings associated with testicular gonadoblastoma was a well-defined complex mass with a solid and interspaced cystic components. It should be mentioned that the cystic component is not usual for gonadoblastoma, but its presence may suggest the existence of [[granulosa cells]] in the tumor. Additionally, [[calcification]] of a tumor may not be present all the time.<ref name="LuisiriVogler1991">{{cite journal|last1=Luisiri|first1=A|last2=Vogler|first2=C|last3=Steinhardt|first3=G|last4=Silberstein|first4=M|title=Neonatal cystic testicular gonadoblastoma. Sonographic and pathologic findings.|journal=Journal of Ultrasound in Medicine|volume=10|issue=1|year=1991|pages=59–61|issn=02784297|doi=10.7863/jum.1991.10.1.59}}</ref> It is also observed that gonadoblastoma may lead to an increase in echogenicity localized to the tumor location on the ultrasound imaging studies.<ref name="pmid10226831">{{cite journal |vauthors=Hatano T, Yoshino Y, Kawashima Y, Shirai H, Iizuka N, Miyazawa Y, Sakata A, Onishi T |title=Case of gonadoblastoma in a 9-year-old boy without physical abnormalities |journal=Int. J. Urol. |volume=6 |issue=3 |pages=164–6 |date=March 1999 |pmid=10226831 |doi= |url=}}</ref>
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| ===CT scan and MRI===
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| Gonadoblastoma may be very small to be visualized on the imaging. when they are macroscopically present, they manifest like a solid tumor in the lower abdomen or pelvis and it can be accompanied by ascites.<ref name="ObataNakashima1995">{{cite journal|last1=Obata|first1=Naoko H.|last2=Nakashima|first2=Nobuo|last3=Kawai|first3=Michiyasu|last4=Kikkawa|first4=Fumitaka|last5=Mamba|first5=Susumu|last6=Tomoda|first6=Yutaka|title=Gonadoblastoma with Dysgerminoma in One Ovary and Gonadoblastoma with Dysgerminoma and Yolk Sac Tumor in the Contralateral Ovary in a Girl with 46XX Karyotype|journal=Gynecologic Oncology|volume=58|issue=1|year=1995|pages=124–128|issn=00908258|doi=10.1006/gyno.1995.1195}}</ref> | |
| 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.
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| ==Treatment== | | ==Treatment== |
| | [[Gonadoblastoma medical therapy|Medical Therapy]] | [[Gonadoblastoma surgery|Surgery]] | [[Gonadoblastoma primary prevention|Primary Prevention]] | [[Gonadoblastoma secondary prevention|Secondary Prevention]] | [[Gonadoblastoma cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Gonadoblastoma future or investigational therapies|Future or Investigational Therapies]] |
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| The mainstay of treatment for gonadoblastoma is surgical removal of the tumor. Gonadectomy is applied only to those who have Y chromosome content and/or [[virilization]]. Hormonal replacement therapy may be done depending on the patient and presence or absence of vaginal bleeding and or [[virilization]].<ref name="978-1-4557-4858-7">{{cite book | last = Sperling | first = M | title = Pediatric endocrinology | publisher = Elsevier/Saunders | location = Philadelphia, PA | year = 2014 | isbn = 978-1-4557-4858-7 }}</ref> Bilateral gonadectomy should be considered when the contralateral gonad is abnormal or undescended. Since gonadoblastoma was also found in anatomically normal male, in case of gonadoblastoma in anatomically normal male, close monitoring of contralateral gonad is recommended if it is preserved.<ref name="pmid2231948">{{cite journal |vauthors=Chapman WH, Plymyer MR, Dresner ML |title=Gonadoblastoma in an anatomically normal man: a case report and literature review |journal=J. Urol. |volume=144 |issue=6 |pages=1472–4 |date=December 1990 |pmid=2231948 |doi= |url=}}</ref><ref name="pmid10226831">{{cite journal |vauthors=Hatano T, Yoshino Y, Kawashima Y, Shirai H, Iizuka N, Miyazawa Y, Sakata A, Onishi T |title=Case of gonadoblastoma in a 9-year-old boy without physical abnormalities |journal=Int. J. Urol. |volume=6 |issue=3 |pages=164–6 |date=March 1999 |pmid=10226831 |doi= |url=}}</ref>
| | ==Case Studies== |
| Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].
| | [[Gonadoblastoma case study one|Case #1]] |
| Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].
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| ==References==
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| {{reflist|3}}
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