Disgenesias gonadais e tumores: aspectos genéticos e clínicos

Lipay, Mônica Vannucci Nunes; Bianco, Bianca; Verreschi, Ieda Therezinha do Nascimento

doi:10.1590/s0004-27302005000100008

Cited by 23 publications

(14 citation statements)

References 44 publications

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“…39 Patients with disorders of sexual development are at increased risk of developing tumors originating from germ lines, also known as germcell tumors. 40 Several risk factors have been identified for these kinds of germ-cell tumors, particularly those relating to gonads, including cryptorchidism and gonadal dysgenesis.…”

Section: Y Chromosome and Risk Of Gonadal Tumor Developmentmentioning

confidence: 99%

Y chromosome in Turner syndrome: review of the literature

Oliveira¹,

Verreschi

Lipay

et al. 2009

Sao Paulo Med. J.

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Turner syndrome (TS) is one of the most common types of aneuploidy among humans, and is present in 1:2000 newborns with female phenotype.Cytogenetically, the syndrome is characterized by sex chromosome monosomy (45,X), which is present in 50-60% of the cases. The other cases present mosaicism, with a 45,X cell line accompanied by one or more other cell lines with a complete or structurally abnormal X or Y chromosome. The presence of Y-chromosome material in patients with dysgenetic gonads increases the risk of gonadal tumors, especially gonadoblastoma. The greatest concern is the high risk of developing gonadoblastoma or other tumors and virilization during puberty if chromosome Y-specific sequences are present. The role of the Y chromosome in human oncogenesis is still controversial. Even though gonadoblastoma is a benign tumor, it can undergo transformation into invasive dysgerminoma in 60% of the cases, and also into other, malignant forms of germ cell tumors. Although some authors have questioned the high incidence of gonadoblastoma (around 30%), the risk of developing any kind of gonadal lesion, whether tumoral or not, justifies investigation of Y-chromosome sequences by means of the polymerase chain reaction (PCR), a highly sensitive, low-cost and easy-to-perform technique. In conclusion, mosaicism of both the X and the Y chromosome is a common finding in TS, and detection of Y-chromosome-specific sequences in patients, regardless of their karyotype, is necessary in order to prevent the development of gonadal lesions. RESUMOA síndrome de Turner (ST) é uma das aneuploidias mais comuns em humanos e está presente em 1:2000 recém-nascidas com fenótipo feminino.Citogeneticamente, a síndrome é caracterizada por uma monossomia de cromossomo sexual (45,X) em 50-60% dos casos. Os demais casos apresentam mosaicismo com uma linhagem celular 45,X acompanhada de outra(s) com o cromossomo X ou Y íntegros ou com alterações estruturais. A presença de material do cromossomo Y em pacientes com gônadas disgenéticas aumenta o risco de tumores gonadais, especialmente gonadoblastoma. A consideração mais importante diz respeito ao elevado risco de desenvolvimento de gonadoblastoma ou outros tumores e a virilização na puberdade se sequências cromossomo Y-específicas estiverem presentes. O papel do cromossomo Y na oncogênese dos cânceres humanos ainda é controverso.Apesar de o gonadoblastoma ser um tumor benigno, ele pode transformar-se num disgerminoma invasivo em 60% dos casos e também em outras formas malignas de tumores de células germinativas. Apesar de alguns autores questionarem a alta incidência (em torno de 30%) de gonadoblastoma, o risco do desenvolvimento de qualquer tipo de lesão gonadal, tumoral ou não, justifica a pesquisa de sequências do cromossomo Y por PCR (reação de polimerase em cadeia), técnica de alta sensibilidade, baixo custo e fácil execução. Em conclusão, o mosaicismo cromossômico tanto do X como do Y é um fato comum na ST e a detecção de sequências cromossomo Y-específicas nas portadoras, indepen...

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Section: Y Chromosome and Risk Of Gonadal Tumor Developmentmentioning

confidence: 99%

Y chromosome in Turner syndrome: review of the literature

Oliveira¹,

Verreschi

Lipay

et al. 2009

Sao Paulo Med. J.

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“…The same occurred with incomplete or partial gonadal dysgenesis (PGD), which designated the existence of bilateral dysgenetic testes (4,5). In subjects with 45,X/46,XY mosaicism, the histological picture of dysgenetic testis plus contralateral streak gonad (MGD) is more frequently observed than bilateral dysgenetic testes (PGD) (6,7), while among those with a 46,XY karyotype the frequencies are similar (6).…”

Section: Sumáriomentioning

confidence: 99%

46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis

Andrade

Guerra‐Júnior

Maciel‐Guerra

2010

Arq Bras Endocrinol Metab

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The objective of this study was to describe the change in diagnosis and prognosis of a child with testicular dysgenesis and 46,XY karyotype after detection of a 45,X cell line and to discuss the difficulties caused by the terms mixed gonadal dysgenesis (MGD) and XY partial gonadal dysgenesis (XYPGD). One case was reported including clinical and laboratory findings of a child of 41-day-old infant with 1.3-cm phallus, penoscrotal hypospadias and left prepubertal testis. Karyotype 46,XY (16 cells), normal hormone levels. Right streak gonad, epididymis and müllerian remnants were removed; initial diagnosis was XYPGD. Persistent growth retardation led to further cytogenetic analysis (50 cells) and detection of a 45,X cell line. Detection of a 45,X lineage changed both the diagnosis to MGD and also the prognosis.The number of cells analyzed in karyotyping is critical. Use of MGD and XYPGD to designate both a histological picture and a syndromic diagnosis, results in lack of emphasis on clinical differences between 46,XY and 45,X/46,XY subjects.

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“…Gonadal dysgenesis may be classified as pure (com plete), partial (incomplete) or mixed dysgenesis (11). Complete gonadal dysgenesis (CGD) is characterized by phenotypically female individuals without genital ambiguity, and presence of dysgenetic gonads, and nor mal Müllerian derivatives.…”

Section: Bras Endocrinol Metab 2011;55(8):607-12mentioning

confidence: 99%

Multifunctional role of steroidogenic factor 1 and disorders of sex development

Mello

França

Fabbri

et al. 2011

Arq Bras Endocrinol Metab

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SUMMARYDisorders of sex development (DSD) involve several conditions that result from abnormalities during gonadal determination and differentiation. Some of these disorders may manifest at birth by ambiguous genitalia; others are diagnosed only at puberty, by the delayed onset of secondary sexual characteristics. Sex determination and differentiation in humans are processes that involve the interaction of several genes such as WT1, NR5A1, NR0B1, SOX9, among others, in the testicular pathway, and WNT4, DAX1, FOXL2 and RSPO1, in the ovarian pathway. One of the major proteins in mammalian gonadal differentiation is the steroidogenic nuclear receptor factor 1 (SF1). This review will cover some of the most recent data on SF1 functional roles and findings related to mutations in its coding gene, NR5A1. Arq Bras Endocrinol Metab. 2011;55(8):607-12 Keywords Steroidogenic factor 1; NR5A1 gene; disorders of sex development SUMÁRIOOs distúrbios do desenvolvimento sexual (DDS) envolvem várias condições que resultam de anormalidades que podem acontecer tanto na determinação como durante a diferenciação gonadal. Algumas dessas doenças podem se manifestar ao nascimento principalmente por genitália ambígua, outras são diagnosticadas apenas na puberdade por atraso no aparecimento de características sexuais secundárias. A determinação e a diferenciação do sexo em seres humanos são processos que envolvem interações entre vários genes nas vias testicular, tais como NR5A1, NR0B1, WT1, SOX9, entre outros, e ovariana, tais como WNT4, DAX1, FOXL2 e RSPO1. Uma das principais proteínas na diferenciação gonadal de mamíferos é o fator esteroidogênico e receptor nuclear 1 (SF1). Esta revisão cobrirá alguns dos dados mais recentes sobre os papéis funcionais de SF1 e as últimas descobertas relacionadas a mutações em seu gene, NR5A1. Arq Bras Endocrinol Metab. 2011;55(8):607-12 Descritores Fator esteroidogênico 1; gene NR5A1; doenças do desenvolvimento sexual T he presence or absence of the Y chromosome in the karyotype of most mammals, including hu mans, is linked, respectively, to the processes of male and female sex determination and differentiation (1,2). Sex development is classically divided into three stages: determination, which is chromosomally established at fertilization; differentiation of the gonads from undif ferentiated embryonic structures into testes or ovaries; and secondary sexual differentiation, which is the res ponse of innumerous tissues to hormones produced by either gonads to complete sexual maturation during puberty (3). Disorders of sex development (DSD) in volve several conditions that result from abnormalities in one of the three stages. Some of these disorders may Copyright © ABE&M todos os direitos reservados. 608Arq Bras Endocrinol Metab. 2011;55/8 SF1 and disorders of sex development manifest at birth by ambiguous genitalia; others are di agnosed only at puberty by delayed onset of secondary sexual characteristics (4,5). In cases of newborns with ambiguous genitalia, the definition of appropriate sex is ...

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Disgenesias gonadais e tumores: aspectos genéticos e clínicos

Cited by 23 publications

References 44 publications

Y chromosome in Turner syndrome: review of the literature

Y chromosome in Turner syndrome: review of the literature

46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis

Multifunctional role of steroidogenic factor 1 and disorders of sex development

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