AI Summary & Key Takeaways
AI InsightIn the assessment of the results obtained from lumbar vertebrae L1, L2, L3 and L4 which were subjected to osteo-densitometric analysis, BMD was found to be 0.592g/cm²and it was concluded that it might be Juvenil Osteoporosis with spontaneous fracture risk due to bone mineral density loss of 31% (Z-score: -27) according to WHO criteria.
📌 3 Key Takeaways
Abstract
In this study, a case report is presented with Turner’s Syndrome with isochromosome carrier, Juvenile Osteoporosis and spontaneous fracture risk. As regards the case, who was referred to Genetic laboratory of Medical Biology Department, Medical Faculty, Dicle University, with pre-diagnosis of growth and development retardation and primary amenore, on average 10 preparats were prepared after performing peripheric blood culture method for chromosomal analysis. The preparats were stained with Giemsa Banding Techniques , and were studied. As a result of chromosomal analysis of the case, whose X-chromatid was positive, the chromosom constitution was determined to be 46,X,i(X)(qter→q10::q10→qter) and diagnosed as Turner’s Syndrome. In the assessment of the results obtained from lumbar vertebrae L1, L2, L3 and L4 which were subjected to osteo-densitometric analysis, BMD was found to be 0.592g/cm²and it was concluded that it might be Juvenil Osteoporosis with spontaneous fracture risk due to bone mineral density loss of 31% (Z-score: -27) according to WHO criteria.
Özet
Bu çalışmada, spontan fraktür riskli, juvenil osteoroporoza sahip, izokromozom taşıyıcısı Turner sendromlu olgu sunulmuştur. Büyüme ve gelişme geriliği ve primer amenore ön tanılarıyla Dicle Üniversitesi Tıp Fakültesi Tıbbi Biyoloji Genetik laboratuarına gönderilen bu olguya kromozom analizi için periferik kan kültürü yöntemi uygulanmıştır. Ortalama 10 preparat hazırlanmıştır. Hazırlanan preparatlar Giemsa Bantlama Tekniği ile boyanarak incelemeye alınmıştır. Barr cisimciğide pozitif olan olguda, yapılan kromozom analizi sonucunda 46,X,i(X)(qter→q10::q10→qter) kromozom kuruluşu saptanmış ve Turner sendromu tanısı konulmuştur. Osteo-dansitometrik analize tabii tutulan L1, L2, L3, L4 Lumbar vertebralardan elde edilen sonuçların değerlendirilmesinde, (BMD) 0.592 g/cm² olup, WHO kriterlerine göre; kendi yaş grubuna göre (Z-skor: -2.7) %31 oranında kemik mineral yoğunluğu kaybı ile ileri derecede artmış spontan fraktür riskli Juvenil Osteoropoz olabileceği kanısına varılmıştır.