Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases

Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases

Author Bianco, Bianca Autor UNIFESP Google Scholar
Lipay, Monica Vannucci Nunes Autor UNIFESP Google Scholar
Guedes, Alexis Dourado Autor UNIFESP Google Scholar
Verreschi, Ieda T. N. Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract Objective: To determine the clinical implications of the presence of a Y chromosome in Turner's syndrome patients with karyotype abnormalities.Design: To investigate the presence of Y-chromosome sequences in different tissue samples.Setting: Endocrinology outpatient clinic of a federal university in Brazil.Patient(s): Five Turner's syndrome patients with karyotype abnormalities such as marker chromosomes, additional material, or ring chromosomes.Intervention(s): Peripheral blood, oral epithelial cells, and hair root samples were collected.Main Outcome Measure(s): the SRY gene and the DYZ3 repeat region were amplified by polymerase chain reaction followed by gel electrophoresis mobility of amplified genomic DNA, and ultraviolet visualization. Prophylactic gonadectomy was offered to the Y-positive patients.Result(s): the analysis of the different tissues revealed that three of the five patients studied presented Y-chromosome mosaicism. These three patients underwent prophylactic gonadectomy, and in one of them, the histopathologic study of the gonads disclosed hilus cell hyperplasia and stromal luteoma with contralateral nodular hyperthecosis.Conclusion(s): A systematic search for Y-chromosome mosaicism in Turner's syndrome patients is justified by the risk of developing gonadal tumors or androgen-producing lesions. (Fertil Steril (R) 2008; 90: 1197.e17-e20. (C) 2008 by American Society for Reproductive Medicine.)
Keywords Turner's syndrome
Y mosaicism
nontumoral lesions
androgen-producing lesions
Language English
Date 2008-10-01
Published in Fertility and Sterility. New York: Elsevier B.V., v. 90, n. 4, 4 p., 2008.
ISSN 0015-0282 (Sherpa/Romeo, impact factor)
Publisher Elsevier B.V.
Extent 4
Access rights Open access Open Access
Type Editorial
Web of Science ID WOS:000207699700005

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