Turner syndrome in childhood and adolescence.
Turner syndrome in childhood and adolescence.
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DOI：
10.1586/17446651.3.6.771
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发表时间：
2008-01-01
影响因子：
3.2
通讯作者：
Bondy, Carolyn A
中科院分区：
文献类型：
--
作者：
McCarthy, Kateri;Bondy, Carolyn A
本文回顾了目前的模式的确定，临床特征和护理质量的女孩特纳综合征，基于队列的100名女孩（7-17岁）前瞻性评估自2001年以来，在国家儿童健康研究所。大约25%的胎儿在出生前或出生时被诊断为蹼状颈和其他胎儿水肿的典型特征，很少在儿童早期被诊断，大多数直到9岁或更大时才被诊断。主要临床特征包括甲状腺自身免疫（51%）、先天性心血管异常（44%）、肝脏异常（36%）、高血压（34%）、听力损失（30%）和肾脏异常（18%）。在该组中，75%的人正在或曾经接受过生长激素治疗。这些女孩比未治疗组平均高5厘米，肥胖程度明显降低。我们讨论了青春期开始的新指南和促进特纳综合征女孩成年后健康和长寿所需的紧急研究。
This article reviews current patterns of ascertainment, clinical characteristics and quality of care for girls with Turner syndrome, based on a cohort of 100 girls (aged 7-17 years) prospectively evaluated at the National Institute of Child Health since 2001. Approximately 25% were diagnosed prenatally or at birth owing to webbed neck and other features typical of fetal lymphedema, few were diagnosed during early childhood, with the majority undiagnosed until age 9 years or older. Major clinical features included thyroid autoimmunity (51%), congenital cardiovascular anomalies (44%), liver abnormalities (36%), hypertension (34%), hearing loss (30%) and renal anomalies (18%). Of the group, 75% were being or had been treated with growth hormone. These girls were an average of 5 cm taller and significantly less obese than the untreated group. We discuss new guidelines for the initiation of puberty and urgent research needed to promote the health and longevity of girls suffering from Turner syndrome as they become adults.