Farhud Dariush, Asgarian Rojiar, Seifalian Amelia, Mostafaeinejad Paria, Eslami Maryam
School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.
Department of Basic Sciences, Iranian Academy of Medical Sciences, Tehran, Iran.
Iran J Public Health. 2021 Oct;50(10):2065-2075. doi: 10.18502/ijph.v50i10.7507.
Turner syndrome (TS), also known as 45,X, is a genetic disorder caused by the partial or complete lack of an X chromosome. TS can cause a variety of medical and developmental conditions. We aimed to investigate TS mosaicism and variants pattern and research the presence of a correlation between the different variant's factors and TS occurrence.
From 1984-2018, 100,234 patients referred to the Farhud Genetic Clinic, Tehran, Iran, for karyotyping were studied. TS was determined by the chromosomal assay, and the patients' karyotype was obtained from amniotic fluid and blood samples. Different variants of the TS diagnosed patients were investigated, including maternal and paternal age at pregnancy, parental consanguinity, and the presence/absence of a family history of the disease.
Overall, 261/100,234 (0.26%) were diagnosed with TS. These, 150 cases were identified to have the classical 45,X karyotype and 111 cases were identified to have either TS mosaicism or other less common variations of TS karyotyping. Higher parental age at pregnancy and TS data suggested that the occurrence of TS is significantly higher.
Data suggest parental age at pregnancy is an important factor for TS occurrence. Hence, prenatal screening in these groups of parents recommended. This study also implicates early medical diagnostic testing before the onset of puberty or as soon as symptoms arise is essential for early treatment.
特纳综合征（TS），也称为45,X，是一种由部分或完全缺失一条X染色体引起的遗传性疾病。TS可导致多种医学和发育状况。我们旨在研究TS嵌合体和变异模式，并研究不同变异因素与TS发生之间的相关性。
对1984年至2018年转诊至伊朗德黑兰法尔胡德遗传诊所进行核型分析的100234例患者进行研究。通过染色体分析确定TS，并从羊水和血液样本中获取患者的核型。对诊断为TS的患者的不同变异情况进行调查，包括孕期父母年龄、父母近亲结婚情况以及疾病家族史的有无。
总体而言，100234例中有261例（0.26%）被诊断为TS。其中，150例被确定具有经典的45,X核型，111例被确定具有TS嵌合体或其他不太常见的TS核型变异。孕期父母年龄较大与TS数据表明TS的发生率显著更高。
数据表明孕期父母年龄是TS发生的一个重要因素。因此，建议对这些父母群体进行产前筛查。本研究还表明，在青春期开始前或症状出现后尽早进行医学诊断检测对于早期治疗至关重要。
