Klinefelter syndrome: a genetic condition with late diagnosis and under-diagnosed

Authors

DOI:

https://doi.org/10.11606/issn.1679-9836.v100i5pi-iv

Keywords:

Klinefelter Syndrome, Diagnosis

Downloads

Download data is not yet available.

Author Biography

  • Alessandra Bernadete Trovó de Marqui, Universidade Federal do Triângulo Mineiro/UFTM

    Docente da Disciplina de Genética, Departamento de Patologia, Genética e Evolução da Universidade Federal do Triângulo Mineiro/UFTM, Uberaba, MG, Brasil.

References

Bonomi M, Rochira V, Pasquali D, Balercia G, Jannini EA, Ferlin A; Klinefelter ItaliaN Group (KING). Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. J Endocrinol Invest. 2017;40(2):123-34. https://doi.org/10.1007/s40618-016-0541-6.

Ly A, Sermondade N, Brioude F, Berthaut I, Bachelot A, Hamid RH, Khattabi LE, Prades M, Lévy R, Dupont C. Fertility preservation in young men with Klinefelter syndrome: a systematic review. J Gynecol Obstet Hum Reprod. 2021;50(9):102177. https://doi: 10.1016/j.jogoh.2021.102177.

Vena W, Pizzocaro A, Indirli R, Amer M, Maffezzoni F, Delbarba A, Leonardi L, Balzarini L, Ulivieri FM, Ferlin A, Mantovani G, Lania AG, Ferrante E, Mazziotti G. Prevalence and determinants of radiological vertebral fractures in patients with Klinefelter syndrome. Andrology. 2020;8(6):1699-1704. https://doi: 10.1111/andr.12841.

Costa C, Caldeira F, Pereira C, Sampaio L. Klinefelter’s syndrome: 18 years’ experience of a pediatric endocrinology unit. Sci Med. 2011;21(4):162-5. Disponível em: https://revistaseletronicas. pucrs.br/ojs/index.php/scientiamedica/article/view/9138/7234.

Pacenza N, Pasqualini T, Gottlieb S, Knoblovits P, Costanzo PR, Stewart Usher J, Rey RA, Martínez MP, Aszpis S. Clinical presentation of Klinefelter’s syndrome: differences according to age. Int J Endocrinol. 2012;2012:324835. https://doi: 10.1155/2012/324835.

Asirvatham AR, Pavithran PV, Pankaj A, Bhavani N, Menon U, Menon A, Abraham N, Nair V, Kumar H, Thampi MV. 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. https//doi.org/10.4103/ijem.IJEM_582_18.

Tincani BJ, Mascagni BR, Pinto RDP, Guaragna-Filho G, Castro CCTS, Sewaybricker LE, Viguetti-Campos NL, Marques-de-Faria AP, Maciel-Guerra AT, Guerra-Júnior G. Síndrome de Klinefelter: diagnóstico raro na faixa etária pediátrica. J Pediatr. (Rio J.) 2012;88(4):323-7. Disponível em: https://www.scielo.br/pdf/jped/v88n4/a08v88n4.pdf.

Trovó de Marqui, AB. Cariótipos possíveis na síndrome de Klinefelter: uma revisão narrativa. Diagn Tratamento. 2021;26(1):4-11. Disponível em: https://docs.bvsalud.org/biblioref/2021/06/1247971/rdt_v26n1_4-11.pdf

Curado RMOF, Sestari SJ, Gamba BF, Bicudo LAR, Approbato MS, Amaral WN, Bérgamo NA. Síndrome de Klinefelter, uma condição subdiagnosticada: revisão de literatura. RRS-FESGO. 2020;3(1):68-75. Disponível em: http://periodicos.estacio.br/index.php/rrsfesgo/article/viewFile/8084/47966660.

Ferlin A. Strategies to improve early diagnosis of Klinefelter syndrome. Expert Rev Endocrinol Metab. 2020;15(6):375-8. https://doi.org/10.1080/17446651.2020.1831912.

Gravholt CH, Chang S, Wallentin M, Fedder J, Moore P, Skakkebæk A. Klinefelter syndrome: integrating genetics, neuropsychology, and endocrinology. Endocr Rev. 2018;39(4):389-423. https://doi: 10.1210/er.2017-00212.

Published

2021-12-10

Issue

Section

Editorial

How to Cite

Trovó de Marqui, A. B. (2021). Klinefelter syndrome: a genetic condition with late diagnosis and under-diagnosed. Revista De Medicina, 100(5), i-iv. https://doi.org/10.11606/issn.1679-9836.v100i5pi-iv