Anomalies de structure du chromosome Y et syndrome de Turner

Ravel, Célia; Siffroi, Jean Pierre

doi:10.1016/j.gyobfe.2009.04.018

Cited by 15 publications

(4 citation statements)

References 33 publications

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“…Finally, our study gives credit to the theory, based on chromosome instability, of a link between a Y chromosome rearrangement that may predispose to anaphase lag and emergence of a 45,X cell line, and the occurrence of a disorder of sexual development, which has been proposed by other authors (5,12,14,15,16,17). Indeed, 63% of our patients had abnormal Y chromosome structure, which is higher than that found in 45,X/46,XY patients considering all phenotypes (20%) (10).…”

Section: Patient Gh Therapysupporting

confidence: 76%

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Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys

Martinerie

Morel²,

Pienkowski³

et al. 2012

European Journal of Endocrinology

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Context: Gender assignment followed by surgery and hormonal therapy is a difficult decision in the management of 45,X/46,XY patients with abnormal external genitalia at birth considering the paucity of studies evaluating pubertal development and fertility outcome, most notably for patients raised as boys. Objective: The purpose of this study was to describe the pubertal course of 20 45,X/46,XY patients born with ambiguous genitalia and raised as boys. Methods: This is a multicenter retrospective study. Results: Mean age at study was 25.6G2.4 years. Eighty-five percent of the patients presented a 'classical' mixed gonadal dysgenetic phenotype at birth. Puberty was initially spontaneous in all but three boys, although in six other patients, testosterone therapy was subsequently necessary for completion of puberty. Sixty-seven percent of the remaining patients presented signs of declined testicular function at the end of puberty (increased levels of FSH and low levels of testosterone and/or inhibin B). Moreover, an abnormal structure of the Y chromosome, known to alter fertility, was found in 10 out of 16 (63%) patients. Two patients developed testicular cancer. Half of the patients have adult penile length of !80 mm. Mean adult height is 156.9G2 cm, regardless of GH treatment. Conclusions: In summary, 45,X/46,XY children born with ambiguous genitalia and raised as boys have an altered pubertal course and impaired fertility associated with adult short stature, which should, therefore, be taken into consideration for the management of these patients.

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Section: Patient Gh Therapysupporting

confidence: 76%

“…It is also encountered in 1% of male patients being consulted for infertility in the general population (13). Interestingly, a possible link between Y chromosome rearrangement and disorder of sexual development has been observed (5,12,14,15,16,17). Thus, the frequency of Y structural rearrangements was also evaluated in our patients.…”

Section: Introductionmentioning

confidence: 88%

Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys

Martinerie

Morel²,

Pienkowski³

et al. 2012

European Journal of Endocrinology

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“…The complete sequence of the male specific region of Y chromosome (MSY) comprising 95% of the chromosome length revealed about 78 protein-coding genes and about 27 are distinct proteins [3]. Y chromosome loss and rearrangements have been associated with different types of oncogenic disorders like male sex cord stroma tumor [4], lung cancer [5], esophageal carcinoma [6], germ cell tumor [7], turners syndrome [8] and bladder cancer [9]. Both oncogenes and tumour suppressor genes are hypothesised be present in this chromosome causing genetic disorders in male-specific organs such as testis [2].…”

Section: Introductionmentioning

confidence: 99%

A database for human Y chromosome protein data

Periyasamy

Lakshmi²,

Dwibedi³

et al. 2009

Bioinformation

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The human Y chromosome is the sex determining chromosome. The number of proteins associated with this chromosome is 196 and 107 of the 196 proteins have yet not been characterised. Here, we describe the analysis of these 107 proteins by computing various physicochemical properties using sequence and predicted structural data to elucidate molecular function. We present the derived data in the form a form a database made freely available for download, review, refinement and update.Availabilityhttp://puratham.googlepages.com/ or http://puratham.googlepages.com/ftpconnection

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“…Nesses três indivíduos, assim como no caso 13, no qual a alteração estrutural do Y era mais pronunciada ao exame citogenético, a presença dessas alterações da região eucromática deverá ser levada em consideração nas orientações a respeito das consequências da fertilização assistida.As prováveis causas da instabilidade mitótica causada pelas microdeleções ainda não são conhecidas. No entanto, chamou a atenção de Ravel, Siffroi (2009) o fato de terem sido identificadas sequências em Yq capazes de formar neocentrômeros[85]. Embora estes possuam função centromérica, não se detecta DNA alfa-satélite em sua constituição; esses autores acreditam que a perda dessas sequências por deleções na região AFZb ou c possa estar relacionada à instabilidade cromossômica.Nenhuma deleção foi encontrada no braço curto do cromossomo Y. O gene TSPY, localizado em Yp, é um gene candidato na regulação da espermatogênese e está associado ao aparecimento de tumores gonadais em indivíduos com DDS[86]; assim, todos os indivíduos da casuística (com e sem mosaicismo) que não foram submetidos a gonadectomia bilateral devem ser acompanhados cuidadosamente pelo risco de neoplasia.Também não foram encontradas deleções em Yp nos dois indivíduos da casuística portadores de cromossomo Y isodicêntrico (casos 5 e 14 do Quadro 3).…”

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Estudo de microdeleções do cromossomo Y em indivíduos com disgenesia gonadal e linhagem celular 46,XY

Santos¹,

Maciel‐Guerra²

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Anomalies de structure du chromosome Y et syndrome de Turner

Cited by 15 publications

References 33 publications

Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys

Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys

A database for human Y chromosome protein data

Estudo de microdeleções do cromossomo Y em indivíduos com disgenesia gonadal e linhagem celular 46,XY

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