Bucerzan Simona, Miclea Diana, Popp Radu, Alkhzouz Camelia, Lazea Cecilia, Pop Ioan Victor, Grigorescu-Sido Paula
Emergency Hospital for Children, "Iuliu Haţieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Department of Molecular Sciences, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Ther Clin Risk Manag. 2017 May 4;13:613-622. doi: 10.2147/TCRM.S126301. eCollection 2017.
Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria.
Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences.
We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children's Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences.
The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations (=0.45), particularly the cardiovascular ones (=0.44). Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y chromosome sequences were found in only one patient, who subsequently underwent gonadectomy.
The importance of this study resides, to the best of our knowledge, in the fact that the largest group of patients in Romania was analyzed and assessed. To draw firm conclusions on the most valuable clinical indicators for Turner syndrome diagnosis in clinical practice, studies on large groups of patients should be conducted.
近年来，人们对特纳综合征的看法有所转变，由于治疗进展，它不再被视为一种严重的残疾。特纳综合征的诊断延迟和诊断不足很常见，尤其是因为其显著的表型变异性和缺乏明确的诊断标准。
我们的首要目的是评估生长激素（GH）治疗患者与自然生长患者相比的临床、细胞遗传学特征及生长速率。第二个目的是分析Y染色体序列。
我们分析了克卢日紧急儿童医院遗传病理中心诊断为特纳综合征的45例患者。我们对临床特征、核型与表型之间的相关性进行了研究，还对Y染色体序列进行了研究。
诊断时的平均年龄为8.9±5.4岁。观察到外部表型异常数量与内部畸形之间存在显著关联（=0.45），尤其是心血管畸形（=0.44）。接受GH治疗的患者生长速率有所改善，最终身高明显优于未治疗患者；如果在5岁前确诊，治疗后的益处更大。13%的患者经历了自然且完全的青春期，而30%的患者经历了不完全青春期。与45,X/46,XX嵌合核型的患者相比，45,X基因型的患者身高缺陷更大，心脏畸形发生率更高。仅在一名患者中发现了Y染色体序列，该患者随后接受了性腺切除术。
据我们所知，本研究的重要性在于分析和评估了罗马尼亚最大的一组患者。为了在临床实践中就特纳综合征诊断最有价值的临床指标得出确切结论，应该对大量患者群体进行研究。
