Turner sendromu ile ilgili literatür gözden geçirildi
📌 3 Maddede Bu Makale
🎯
Amaç & Hipotez:Turner sendromu sık rastlanılan kromozom anomalilerinden biri olup, canlı doğan kız çocuklarının 1/4000-8000'inde görülmektedir.
📊
Temel Bulgular & Veri:Bu makalede el-ayak sırtı ödemi nedeniyle başvuran ve 45 X0 karyotipi gösteren 10 günlük kız çocuğu sunuldu.
💡
Sonuç & Katkı:Turner sendromu ile ilgili literatür gözden geçirildi
🔬Tür:Laboratuvar & Saha Deneyi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri
Özet
Turner sendromu sık rastlanılan kromozom anomalilerinden biri olup, canlı doğan kız çocuklarının 1/4000-8000'inde görülmektedir. Bu makalede el-ayak sırtı ödemi nedeniyle başvuran ve 45 X0 karyotipi gösteren 10 günlük kız çocuğu sunuldu. Turner sendromu ile ilgili literatür gözden geçirildi
Abstract
Turner's syndrome (TS) is one of the most common chromosomal abnormalities with an estimated frequency among female live birth of 1/4000-8000. In this article, we presented a 10 day-old girl who admitted with carpal-pedal edema, with 45, X0 karyotype. The literature about Turner's syndrome was reviewed
🔖
Bu Makaleye Atıf Yap
BAŞ, E. K., SARIKABADAYI, Y. Ü., BARLIK, M., DEMİRÇUBUK, A. G., KARCIN, M., KILIÇ, B. D. (2014). El-Ayak Sırtı Ödeminden Tanı: Turner Sendromu. Şişli Etfal Hastanesi Tıp Bülteni, Cilt: 48 - Sayı: 2, 153–156. https://ajindex.com/articles/399611
Bondy CA. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab 2007; 92: 10. Chacko E, Graber E, Regelmann MO, Wallach E, Costin G, Rapaport R. Update on Turner and Noonan syndromes. Endocrinol Metab Clin North Am 2012; 41: 713-34.
Hoskovec JM, Sinacori MK, Vidaeff. A foot path to diagnosis: prenatal sonographic identification of dorsal foot edema suggests Turner syndrome. Am J Obstet Gynecol 2013. (baskıda) Vakrilova L, Dimitrova V, Sluncheva B, Jarukova N, Pramatarova T, Shishkova R, Emilova Z. Early diagnosis of Turner Syndrome in a newborn. Akush Ginekol 2010; 49: 63-7.
Chacko EM, Rapaport R. Short stature and its treatment in Turner and Noonan syndromes. Curr Opin Endocrinol Diabetes Obes 2012; 19: 40-6.
Abir R, Fisch B, Nahum R, Orvieto R, Nitke S, Ben Rafael Z. Turner's syndrome and fertility: current status and possible putative prospects. Hum Reprod Update 2001; 7: 603-10.
Carel JC, Eugster EA, Rogol A, Ghizzoni L, Palmert MR. Consensus statement on the use of gonadotropin-releasing hormone analogs in children. Pediatrics 2009; 123: 752-62.
Hausler G, Schemper M, Frisch H. Spontaneous growth inTurner syndrome: Evidence for a minor pubertal growth spurt. In: Ranke MB, Rosenfeld RG (eds). Turner syndrome: Growth promoting therapies. Elsevier Science Publishers BV,NY, 1991: 67-73.
Chiumello G, Bognetti E, Bonfanti R, et al. Glucose metabolism in Turner syndrome. In: Ranke MB, Rosenfeld RG (eds). Turner syndrome: Growth promoting therapies. Elsevier Science Publishers BV, NY, 1991: 47-9. Davenport ML. Approach to the patient with Turner syndrome. J Clin Endocrinol Metab 2010; 95: 1487-95.
Donaldson MD, Gault EJ, Tan KW, Dunger DB. Optimising management in Turner syndrome: from infancy to adult transfer. Arch Dis Child 2006; 91: 513-20.
Karlberg J, Albertsson-Wikland K, Naerae RW. The infancy- childhood-puberty (1CP) model of growth for Turner girls. In: Ranke MB, Rosenfeld RG (eds). Turner syndrome: Growth promoting therapies. Elsevier Science Publishers BV, NY, 1991: 89-94.