Gonadal tumors in disorders of sexual differentiation

Gourlay, William A.; Johnson, Hjalmar W.; Pantzar, J. Tapio; McGillivray, Barbara; Crawford, Richard; Nielsen, William R.

doi:10.1016/0090-4295(94)90251-8

Cited by 66 publications

(42 citation statements)

References 9 publications

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“…21 The well-known syndromes associated with a risk for tumor development are: mixed gonadal dysgenesis, some patients with Turner phenotype and in several cases of 46,XY male pseudohermaphroditism. [2][3][4][5][6][7] There is also a reported case of this type of tumor in a 46,XX/46,XY true hermaphrodite. 6 The tumor development in these patients had been associated with the presence of normal or abnormal Y-chromosomes, molecular evidence for Y-derived sequences and intrabdominal location of the abnormal gonads.…”

Section: Discussionmentioning

confidence: 91%

“…This unique gonadal neoplasm was described by Scully 1 in 1957 as a benign tumor that affects mostly a subset of patients with intersex disorders. The syndromes associated with a clear risk for tumor development are mixed gonadal dysgenesis, 1-3 some patients with Turner phenotype, 4 occasionally in 46,XY male pseudohermaphroditism [2][3][4][5] and there is also a reported case in a 46,XX/46,XY true hermaphrodite. 6 Tumor development in these patients is associated with the presence of either normal or abnormal Y-chromosomes or molecular evidence for Y-derived sequences and intrabdominal location of the abnormal gonad.…”

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confidence: 99%

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Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants

et al. 2005

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Gonadoblastoma is an unusual mixed germ cell-sex cord-stromal tumor that has the potential for malignant transformation and 30% of all patients with gonadoblastoma develop germ cell tumors mainly dysgerminoma/ seminoma. An additional 10% gives rise to other malignant germ cell neoplasms. This tumor affects a subset of patients with intersex disorders. The age at diagnosis is variable ranging from birth to the fourth decade, but around 94% of cases are diagnosed during the first three decades of life and there are few cases with gonadoblastoma diagnosed in infants. In this paper, we present the histological and molecular findings of four patients with gonadal dysgenesis who developed gonadoblastoma in the first 2 years of life and one case with bilateral dysgerminoma diagnosed at 15 years of age. The sex chromosomes of mosaic patients do not distribute homogenously in dysgenetic gonads; however, statistical analysis of FISH results revealed significant differences between the XY cell line in the gonadoblastoma compared with the dysgenetic testis. Our cases demonstrate that tumors could be present at a very early age, so the prophylactic removal of the gonads is advised.

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Section: Discussionmentioning

confidence: 91%

mentioning

confidence: 99%

Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants

et al. 2005

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“…19 Í Downs-heilkenni er 10-20-föld haetta baeði á bráðaeitilfrumuhvítblaeði og bráðamergfrumu-hvítblaeði 20 og hjá stúlkum með XY litningagerð sem greinast með pure gonadal dysgenesis er oftast maelt með brottnámi eggjastokka vegna haettunnar á illkynja meinum í eggjastokkum. 21 Mikilvaegt er því að vera vakandi fyrir krabbameinum hjá þeim sem hafa þekkta meðfaedda áhaettuþaetti.…”

Section: Umraeðaunclassified

Krabbamein hjá börnum á Íslandi árin 1981-2006

Óskarsson

Og²,

Kristinsson³

et al. 2010

LBL

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“…elevado para o desenvolvimento de tumores gonadais. Estima-se que 20 a 30% dos casos de DGP XY desenvolvem gonadoblastoma e/ou disgerminoma (1,(8)(9)(10)(11). Quanto à etiologia, existem relatos indicando herança recessiva ligada ao cromossomo X, ou ainda sugestivos da participação de genes autossômicos, tanto de transmissão dominante quanto recessiva, com expressão limitada ao sexo masculino.…”

Section: Disgenesia Gonadal Puraunclassified

Disgenesias gonadais e tumores: aspectos genéticos e clínicos

Lipay

Bianco

Verreschi

2005

Arq Bras Endocrinol Metab

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Arq Bras Endocrinol Metab vol 49 nº 1 Fevereiro 2005 60 RESUMOAs Disgenesias Gonadais compõem um espectro clínico de anomalias com fenótipo variável, de feminino a ambíguo ou masculino, em pacientes com desenvolvimento puberal comprometido ou ausente e cariótipo contendo ou não um cromossomo Y e/ou cromossomos marcadores. Embora as seqüências Y-específicas nem sempre sejam evidentes citogeneticamente, as gônadas disgenéticas de pacientes com estas seqüências do cromossomo Y apresentam potencialidade para o desenvolvimento de tumores gonadais. O gonadoblastoma, neoplasia de células germinativas misturadas com células de cordões sexuais, geralmente com calcificações focais, é o mais temido pela sua freqüência. Outras neoplasias de comportamento maligno ou não ocorrem nas disgenesias, sendo também relacionadas à presença de seqüências do cromossomo Y. A detecção destas seqüências por técnicas citogenéticas ou moleculares tem sido estimulada para nortear a indicação profilática de cirurgia para retirada das gônadas neste grupo de pacientes, uma vez que não são, em geral, tumores metastáticos e pela possibilidade de cura com a sua rescisão. Gonadal dysgenesis comprises a clinical spectrum of anomalies in patients with female, ambiguous or male phenotype, absent or impaired puberty and karyotype with or without Y chromosome and/or chromosome markers. Although Y-specific sequences are seldom cytogenetically evident, dysgenetic gonads are potentially prone to developing tumors. Gonadoblastoma, a mixed germ cell and sex-cord cells tumor with variable degree of focal calcification, is the most harmful due to its frequency. Other gonadal tumor, maligns or not, also occur in gonadal dysgenesis. As they are not metastatic tumors and may be eradicated by selective excisions, the importance of detecting Y-sequences by molecular sensitized techniques is stressed in order to indicate prophylactic gonadectomy.

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Gonadal tumors in disorders of sexual differentiation

Cited by 66 publications

References 9 publications

Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants

Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants

Krabbamein hjá börnum á Íslandi árin 1981-2006

Disgenesias gonadais e tumores: aspectos genéticos e clínicos

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