Early diagnosis of Klinefelter syndrome: the importance of genetic counseling
DOI:
https://doi.org/10.18316/sdh.v12i1.10888Keywords:
G-banding, Mosaic, Sex chromosomeAbstract
Introduction Klinefelter syndrome is associated with a numerical abnormality involving the sex chromosomes, and has an estimated prevalence of 1:660 in live male births. We present here a child with karyotype 48,XXXY/49,XXXXY diagnosed early with genetic investigation started at 2 months of age. Case description: Brazilian male patient, 2-month-old child of a non-consanguineous couple, uneventful pregnancy and no history of genetic disease. He was brought in for genetic consultation due to delayed psychomotor development and congenital heart disease, had low birth weight, from the beginning he presented hypotonia, dolichocephaly, ear with low implantation, cryptorchidism, congenital heart disease and camptodactyly. The result of the GTG-banding karyotype examination revealed the mos 48,XXXY[20]/49,XXXXY[70] karyotype, which is compatible with the diagnosis of mosaic Klinefelter syndrome. The early identification of these patients has great relevance for their appropriate treatment and care, especially for minimizing the risks of infertility, feminization and the biopsychosocial implications of Klinefelter syndrome.
References
Marqui ABT de. Síndrome de Klinefelter: uma condição genética com diagnóstico tardio e sub-diagnosticada. Rev Med [Internet]. 10 de dezembro de 2021 [citado 21 de fevereiro de 2023];100(5):i–iv. Disponível em: https://www.revistas.usp.br/revistadc/article/view/180899
Gies I, Unuane D, Velkeniers B, De Schepper J. Management of Klinefelter syndrome during transition. Eur J Endocrinol. agosto de 2014;171(2):R67-77.
Jang MA, Jung CW, Jung CW. Extra X Chromosome in Mosaic Klinefelter Syndrome Is Associated with a Hematologic Malignancy. Ann Lab Med [Internet]. julho de 2013 [citado 21 de fevereiro de 2023];33(4):297–9. Disponível em: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698311/
Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nat Clin Pract Urol. abril de 2007;4(4):192–204.
Bonomi M, Rochira V, Pasquali D, Balercia G, Jannini EA, Ferlin A, et al. Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. J Endocrinol Invest. fevereiro de 2017;40(2):123–34.
Tincani BJ, Mascagni BR, Pinto RDP, Guaragna-Filho G, Castro CCTS, Sewaybricker LE, et al. Síndrome de Klinefelter: diagnóstico raro na faixa etária pediátrica. J Pediatr (Rio J) [Internet]. agosto de 2012 [citado 21 de fevereiro de 2023];88:323–7. Disponível em: http://www.scielo.br/j/jped/a/C5HKCpZLLZWGB5MyjqyvZHn/abstract/?lang=pt
Curado RM de OF, Sestari SJ, Gamba BF, Bicudo LAR, Approbato MS, Amaral WN do, et al. Síndrome de Klinefelter, uma condição subdiagnosticada: Revisão de literatura. Referências Em Saúde Cent Univ Estácio Goiás [Internet]. 6 de abril de 2020 [citado 21 de fevereiro de 2023];3(01):68–75. Disponível em: https://estacio.periodicoscientificos.com.br/index.php/rrsfesgo/article/view/200
Aksglaede L, Link K, Giwercman A, Jørgensen N, Skakkebaek NE, Juul A. 47,XXY Klinefelter syndrome: clinical characteristics and age-specific recommendations for medical management. Am J Med Genet C Semin Med Genet. 15 de fevereiro de 2013;163C(1):55–63.
Abdel-Razic MM, Abdel-Hamid IA, Elsobky E, El-Dahtory F. Further Evidence of the Clinical, Hormonal, and Genetic Heterogeneity of Klinefelter Syndrome: A Study of 216 Infertile Egyptian Patients. J Androl [Internet]. 2012 [citado 21 de fevereiro de 2023];33(3):441–8. Disponível em: https://onlinelibrary.wiley.com/doi/abs/10.2164/jandrol.110.011536
Asirvatham AR, Pavithran PV, Pankaj A, Bhavani N, Menon U, Menon A, et al. Klinefelter Syndrome: Clinical Spectrum Based on 44 Consecutive Cases from a South Indian Tertiary Care Center. Indian J Endocrinol Metab. 2019;23(2):263–6.
Milani D, Bonarrigo F, Avignone S, Triulzi F, Esposito S. 48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome. Ital J Pediatr [Internet]. 14 de julho de 2015 [citado 21 de fevereiro de 2023];41(1):50. Disponível em: https://doi.org/10.1186/s13052-015-0156-0
Bhasin S, Jameson JL. Disorders of the Testes and Male Reproductive System. Em: Jameson JL, Fauci AS, Kasper DL, Hauser SL, Longo DL, Loscalzo J, organizadores. Harrison’s Principles of Internal Medicine [Internet]. 20o ed New York, NY: McGraw-Hill Education; 2018 [citado 21 de fevereiro de 2023]. Disponível em: accessmedicine.mhmedical.com/content.aspx?aid=1183992549
Tartaglia N, Ayari N, Howell S, D’Epagnier C, Zeitler P. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr Oslo Nor 1992. junho de 2011;100(6):851–60.
Lu YC, Huang LY, Yang YD, Li DZ. Early prenatal diagnosis of 49,XXXXY: two case reports. J Obstet Gynaecol [Internet]. 17 de fevereiro de 2019 [citado 21 de fevereiro de 2023];39(2):275–7. Disponível em: https://doi.org/10.1080/01443615.2018.1454414
Wei L, Liu Y, Sun S, Tang Y, Chen S, Song G. Case report of 49,XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts. Medicine (Baltimore) [Internet]. 27 de setembro de 2019 [citado 21 de fevereiro de 2023];98(39):e17342. Disponível em: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6775424/
Hammami MB, Elkhapery A. Sexual and developmental aspects of 49, XXXXY Syndrome: A case report. Andrologia. novembro de 2020;52(10):e13771.
Simşek PO, Utine GE, Alikaşifoğlu A, Alanay Y, Boduroğlu K, Kandemir N. Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes. Turk J Pediatr. 2009;51(3):294–7.
Visootsak J, Rosner B, Dykens E, Tartaglia N, Graham JM. Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY. Am J Med Genet A. 1o de junho de 2007;143A(11):1198–203.
Linden MG, Bender BG, Robinson A. Sex chromosome tetrasomy and pentasomy. Pediatrics. outubro de 1995;96(4 Pt 1):672–82.
Gravholt CH, Chang S, Wallentin M, Fedder J, Moore P, Skakkebæk A. Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology. Endocr Rev. 1o de agosto de 2018;39(4):389–423.
Forti G, Corona G, Vignozzi L, Krausz C, Maggi M. Klinefelter’s syndrome: a clinical and therapeutical update. Sex Dev Genet Mol Biol Evol Endocrinol Embryol Pathol Sex Determ Differ. setembro de 2010;4(4–5):249–58.
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