GULHANE MEDICAL JOURNAL 2017 , Vol 59 , Issue 1
Karyotype analysis results in girls followed with short stature
Deniz Torun1,Haluk Kavuş1,Ali Öztuna1,Hatice Akar1,Onur Akın2,Yusuf Tunca1
1Gülhane Eğitim ve Araştırma Hastanesi, Tıbbi Genetik Ana Bilim Dalı, Ankara
2Gülhane Eğitim ve Araştırma Hastanesi, Çocuk Endokrinolojisi Bilim Dalı, Ankara
DOI : 10.5455/gulhane. 260924 Short stature is one of the most common reasons to be referred to a pediatric endocrine clinic in childhood. In this study, patients with short stature attending to our clinic between 2006 and 2016 were analyzed for the chromosomal abnormalities. While 91,25% of the patients (n=73) had normal karyotype, 8,75% of the patients (n=7) revealed a karyotype consistent with Turner syndrome or its variants. There was no statistical difference in height SDS values between the patients with normal karyotype and Turner syndrome. Early treatment of patients with Turner syndrome is important. Therefore, even if no phenotypic signs were detected consistent with Turner syndrome, karyotype analyses should be carried out in all patients with short stature for early diagnosis and the efficient treatment of the patients. Keywords : Chromosomal abnormalities; Short stature; Turner syndrome