Y Chromosome Sequences in Turner's Syndrome: Association with Virilization and Gonadoblastoma

Mancilla, Edna E.; Poggi, Helena; Repetto, Gabriela M.; Rumié, H; García, Hernán G.; Ugarte, F; Hidalgo, Silvia Franco; Jara, A; Muzzo, S; Panteón, E; Torrealba, I; Foradori, A; Cattani, Andreina

doi:10.1515/jpem.2003.16.8.1157

Cited by 33 publications

(21 citation statements)

References 7 publications

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“…Patients with TS, in particular those with 45,X or a marker chromosome at conventional cytogenetic analysis, may benefit from molecular screening analysis to detect the presence of Y-chromosome material (98,99). An unselected series of 171 patients with TS diagnosed cytogenetically was studied for Y-chromosome markers (SRY and Y-centromeric DYZ3 repeats).…”

Section: Y-chromosome Mosaicismmentioning

confidence: 99%

TRANSITION IN ENDOCRINOLOGY: Treatment of Turner's syndrome during transition

Gawlik

Małecka-Tendera

2014

European Journal of Endocrinology

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Transition in health care for young patients with Turner's syndrome (TS) should be perceived as a staged but uninterrupted process starting in adolescence and moving into adulthood. As a condition associated with high risk of short stature, cardiovascular diseases, ovarian failure, hearing loss and hypothyroidism, TS requires the attention of a multidisciplinary team. In this review paper, we systematically searched the relevant literature from the last decade to discuss the array of problems faced by TS patients and to outline their optimal management during the time of transfer to adult service. The literature search identified 233 potentially relevant articles of which 114 were analysed. The analysis confirmed that all medical problems present during childhood should also be followed in adult life. Additionally, screening for hypertension, diabetes mellitus, dyslipidaemia, and osteoporosis is needed. After discharge from the paediatric clinic, there is still a long way to go.

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Section: Y-chromosome Mosaicismmentioning

confidence: 99%

TRANSITION IN ENDOCRINOLOGY: Treatment of Turner's syndrome during transition

Gawlik

Małecka-Tendera

2014

European Journal of Endocrinology

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“…This model is supported by epidemiological and morphological observations, such as the presence of immunohistochemical germ cell markers (placental alkaline phosphatase) and proto-oncogenes (c-KIT). [45][46][47] The genes SRY 16,20,32,36,[48][49][50][51][52][53][54][55][56] and DYZ3 16,32,34,[48][49][50][51]53,[55][56][57] are the sequences most commonly used in studies. Controversy still exists regarding which Y-chromosome markers are the most relevant.…”

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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“…The prevalence of germ cell tumors is increased in patients with DSD containing Y chromosome material in their karyotype and is probably related to the presence of the TSPY gene [26,27]. The development of these invasive tumors is always preceded by the presence of an in situ neoplastic lesion – intratubular germ cell neoplasia unclassified – commonly known as carcinoma in situ or gonadoblastoma.…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of a Male with 45, XO, SRY+, ZFY+ with Short Stature and Mild Turner Stigmata

Ntali

Sofocleous²,

Kouvidi³

et al. 2012

Horm Res Paediatr

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Background: Turner syndrome is hypothesized to result from haploinsufficiency of certain genes expressed from both sex chromosomes that escape X inactivation. Case Report: We present the rare case of a 4-year-old boy who was referred to the pediatric endocrinology unit for evaluation of slight growth delay. Results: Standard cytogenetic analysis showed a 45,XO karyotype. Molecular studies disclosed the presence of an intact SRY homeobox region and the ZFY region sited on the Y short arm. Other Y chromosome sequences which are normally found on the short arm of chromosome Y (p) were absent and their exact location on a different chromosome remained unclear. Subsequently, FISH (fluorescent in situ hybridization) analysis failed to detect any Y sequences, while haplotype analysis indicated that the present X chromosome was of paternal origin. Conclusion: Phenotype-genotype correlation studies were consistent with a male patient presenting with short stature and some of the Turner’s syndrome stigmata. The consequences for the patients with this chromosomal abnormality and treatment with recombinant growth hormone are also discussed.

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Y Chromosome Sequences in Turner's Syndrome: Association with Virilization and Gonadoblastoma

Abstract: Analysis by PCR was more sensitive in detecting Y chromosome sequences than conventional karyotype. The presence of Y material was not associated with virilization. We confirmed the association of Y fragments and gonadoblastoma at an early age.

Cited by 33 publications

References 7 publications

TRANSITION IN ENDOCRINOLOGY: Treatment of Turner's syndrome during transition

TRANSITION IN ENDOCRINOLOGY: Treatment of Turner's syndrome during transition

Y chromosome in Turner syndrome: review of the literature

A Rare Case of a Male with 45, XO, SRY+, ZFY+ with Short Stature and Mild Turner Stigmata

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