Y-chromosome markers in Turner syndrome: Screening of 130 patients

Sallai, Ágnes; Sándor, János; Dobos, M.; Szabó, József; Halász, Zita; Ságodi, László; Niederland, Tamás; Kozári, A.; Bertalan, Rita; Ugocsai, Peter; Fekete, György

doi:10.1007/bf03345783

Cited by 50 publications

(55 citation statements)

References 24 publications

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“…Approximately half of patients with TS have 45,X karyotype, while most of the remaining patients have a mosaic karyotype (typically 45,X/46,XX or 45,X/46,XY) or an isochromosome (1). Those with mosaicism for a cell population with a Y-chromosome have up to a 30% chance of developing a gonadoblastoma within the streak gonads (2)(3)(4). For this reason, prophylactic gonadectomy is indicated when Y-chromosomal material is present in the setting of gonadal dysgenesis.…”

Section: Commentmentioning

confidence: 97%

“…The classic karyotype of TS is 45,X, and the syndrome carries many stigmata including short stature, primary amenorrhea, and infertility related to dysgenetic gonads. Virilization may indicate the presence of a gonadal tumor such as a gonadoblastoma or dysgerminoma, which are found in TS patients when there is a mosaic 46,XY cell line or fragments of Y chromosome material (2)(3)(4)(5). We present a case of a patient with a 45,X karyotype and verified absence of Y-chromosome sequences who became virilized owing to bilateral ovarian hilus cell hyperplasia.…”

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confidence: 89%

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Ovarian hilus cell hyperplasia as the cause of virilization in 45,X Turner’s syndrome

Damle

Gómez-Lobo

Andrus

et al. 2011

Fertility and Sterility

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Section: Commentmentioning

confidence: 97%

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confidence: 89%

Ovarian hilus cell hyperplasia as the cause of virilization in 45,X Turner’s syndrome

Damle

Gómez-Lobo

Andrus

et al. 2011

Fertility and Sterility

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“…Two patients showed a Y chromosome by conventional karyotyping. In Hungarian studies of 130 children with TS, Y chromosomal material was revealed by real-time PCR in 6 patients who were initially considered as Y-negatives by standard cytogenetic testing [Sallai et al, 2010].…”

Section: Discussionmentioning

confidence: 99%

Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome

Rojek

Obara-Moszynska

Kolesinska

et al. 2017

Sex Dev

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The presence of a Y chromosome in patients with Turner syndrome (TS) is a risk factor for the development of gonadal tumor and/or virilization. With conventional cytogenetic analysis, some cells containing a Y chromosome can be missed. The aim of this study was to determine the presence and incidence of Y chromosome-derived material in TS patients using PCR and the markers SRY, DYZ1, DYZ3, DYS132, ZFY, and TSPY. Fifty-five TS patients (aged 5.5-26.75 years) were analyzed. A total of 17/55 (30.9%) were Y-positive, but only 7/17 had a Y chromosome in their karyotype and underwent gonadectomy. In 2 of these patients (28.6%), histopathologic examination revealed gonadoblastoma and dysgerminoma, respectively. In 8 patients in the studied group (8/55; 14.5%), the TSPY gene was detected, and the SRY gene (or a fragment) was identified in 9(3)/55 patients. No coding region mutations were observed in these SRY-positive patients. In conclusion, we have shown a high prevalence of Y chromosomal material in TS. Y markers were also observed in patients who had no Y chromosome in their karyotype, and PCR is very precise in detecting the presence of genetic material from the Y chromosome. Further follow-up of these Y-positive TS patients is mandatory.

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“…Within the group of sex chromosome anomalies, FISH analysis has been a complement to classical cytogenetics for the identification of marker chromosomes (12), and for a more specific and sensitive detection of mosaicism (13,14). Moreover, the study of mucosa cells has also been proposed as a quick and reliable test for the diagnosis of hidden mosaicism (15).…”

Section: Sumáriomentioning

confidence: 99%

The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies

Maciel‐Guerra

Paulo

Santos

et al. 2012

Arq Bras Endocrinol Metab

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FISH has been used as a complement to classical cytogenetics in the detection of mosaicism in sex chromosome anomalies. The aim of this study is to describe three cases in which the final diagnosis could only be achieved by FISH. Case 1 was an 8-year-old 46,XY girl with normal female genitalia referred to our service because of short stature. FISH analysis of lymphocytes with probes for the X and Y centromeres identified a 45,X/46,X,idic(Y) constitution, and established the diagnosis of Turner syndrome. Case 2 was a 21-month-old 46,XY boy with genital ambiguity (penile hypospadias, right testis, and left streak gonad). FISH analysis of lymphocytes and buccal smear identified a 45,X/46,XY karyotype, leading to diagnosis of mixed gonadal dysgenesis. Case 3 was a 47,XYY 19-year-old boy with delayed neuromotor development, learning disabilities, psychological problems, tall stature, small testes, elevated gonadotropins, and azoospermia. FISH analysis of lymphocytes and buccal smear identified a 47,XYY/48,XXYY constitution. Cases 1 and 2 illustrate the phenotypic variability of the 45,X/46,XY mosaicism, and the importance of detection of the 45,X cell line for proper management and follow-up. In case 3, abnormal gonadal function could be explained by the 48,XXYY cell line. The use of FISH in clinical practice is particularly relevant when classical cytogenetic analysis yields normal or uncertain results in patients with features of sex chromosome aneuploidy. Arq Bras Endocrinol Metab. 2012;56(8):545-51

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Y-chromosome markers in Turner syndrome: Screening of 130 patients

Abstract: We recommend a routine molecular screening for hidden Y-chromosome sequences in Turner patients, who are negative for Y-chromosome by conventional cytogenetic analysis, in order to calculate the future risk of developing gonadoblastoma.

Cited by 50 publications

References 24 publications

Ovarian hilus cell hyperplasia as the cause of virilization in 45,X Turner’s syndrome

Ovarian hilus cell hyperplasia as the cause of virilization in 45,X Turner’s syndrome

Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome

The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies

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