Diagnosis Sindrom Turner

Oleh :

dr.Nailla Fariq Alfiani

Diagnosis sindrom Turner ditegakkan berdasarkan temuan klinis seperti perempuan dengan perawakan pendek, gangguan hormonal seperti peningkatan hormon perangsang folikel (FSH) serta analisis kromosom yaitu ditemukannya kelainan pada kromosom X. Diagnosis dapat ditegakkan saat pemeriksaan prenatal dan postnatal.[1,4,20]

Anamnesis

Anamnesis pada sindrom Turner diarahkan untuk mengetahui gejala-gejala yang muncul pada anak yang dicurigai mengidap sindrom Turner. Pada proses tumbuh kembang bayi dengan sindrom Turner dapat tumbuh seperti kondisi normal hingga usia 3 tahun, selanjutnya mengalami keterlambatan dalam tumbuh kembang. Riwayat keluarga tampaknya tidak menjadi faktor risiko. Orang tua yang melahirkan anak dengan sindrom Turner belum tentu akan melahirkan anak dengan sindrom Turner lagi.[4,5,18,19]

Referensi

1. Shankar Kikkeri N, Nagalli S. Turner Syndrome. [Updated 2021 Aug 11]. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. https://www.ncbi.nlm.nih.gov/books/NBK554621/
2. Cui, X., Cui, Y., Shi, L., Luan, J., Zhou, X., & Han, J. A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment. Intractable & rare diseases research, 7(4), 223–228. 2018. https://doi.org/10.5582/irdr.2017.01056
4. Crenshaw ML. Turner Syndrome. National Institute of Child Health and Human Development. 2019. https://rarediseases.org/rare-diseases/turner-syndrome/
5. Rieser P and Davenport M. Turner Syndrome: A Guide For Families. Turner Syndrome Society of the United States. 2017. https://50edf458-92ec-48c8-96eb-0ee4183e817d.filesusr.com/ugd/8fb9de_a621e471cb6542e492a338ee352b65b6.pdf
6. Ibarra-Ramírez M and Martínez-de-Villarreal LE. Clinical and Genetic Aspects Of Turner's Syndrome. The journal Medicina Universitaria Vol. 18. Issue 70 Pages 42-48 (January - March 2016). DOI: 10.1016/j.rmu.2016.03.003. https://www.elsevier.es/en-revista-medicina-universitaria-304-articulo-clinical-genetic-aspects-turner39s-syndrome-S1665579616300503
18. Turner Syndrom. NHS. 2021. https://www.nhs.uk/conditions/turner-syndrome/symptoms/
19. My Baby Has Turner Syndrome. Turner Syndrome Foundation. Diakses tanggal 25 Oktober 2021. https://turnersyndromefoundation.org/living/life-stages/expecting-baby-turner-syndrome
20. Aditiawati, Tjahjono HB, Pulungan AB, Rini EA, Himawan IW, Marzuki NS, dan Batubara JRL. Panduan Praktik Klinis Ikatan Dokter Anak Indonesia : sindrom Turner. IDAI. https://spesialis1.ika.fk.unair.ac.id/wp-content/uploads/2018/03/PPK-Sindrom-Turner.pdf
21. Folsom, L. J., & Fuqua, J. S. Reproductive Issues in Women with Turner Syndrome. Endocrinology and metabolism clinics of North America, 44(4), 723–737. 2015. https://doi.org/10.1016/j.ecl.2015.07.004
22. Wiyasa A dan Pudjiastuti R. Turner Syndrome (Bonnevie-Urlich Syndrome). Maj. Kedok. Unibraw Vol. XIX, No.3, Desember 2003. https://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=&cad=rja&uact=8&ved=2ahUKEwim4aPL397zAhVLOSsKHX0LBfUQFnoECCgQAQ&url=http%3A%2F%2Fjkb.ub.ac.id%2Findex.php%2Fjkb%2Farticle%2Fdownload%2F242%2F233&usg=AOvVaw03n8cKXoLbgkbh4VdIVT23
23. Hemani F, Niaz S, Kumar V, Khan S, Choudry E, and, Ali SR. A Case of Early Diagnosis of Turner Syndrome in a Neonate. Cureus. 2021. https://assets.cureus.com/uploads/case_report/pdf/62527/20210831-4202-1ck3m2s.pdf
24. Gravholt CH, Andersen NH, Gerard S, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. in European Journal of Endocrinology Volume 177: Issue 3 Page G1–G70. 2017. https://doi.org/10.1530/EJE-17-0430
25. Sarıkaya E. Is it Time to Start NewbornScreening forTurner Syndrome?. JSM Genet Genomics 4(1): 1023. 2017. https://www.jscimedcentral.com/Genetics/genetics-4-1023.pdf
26. Wolff, D., Van Dyke, D., Powell, C. et al. Laboratory guideline for Turner syndrome. Genet Med 12, 52–55 (2010). https://doi.org/10.1097/GIM.0b013e3181c684b2
27. Loscalzo ML. Turner Syndrome. Pediatrics in Review July 2008, 29 (7) 219-227; DOI: https://doi.org/10.1542/pir.29-7-219
28. Wiktor, A., & Van Dyke, D. L. FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients. Genetics in medicine : official journal of the American College of Medical Genetics, 6(3), 132–135. 2004. https://doi.org/10.1097/01.gim.0000127270.49902.56

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