特纳综合征变异型中的性早熟。
Precocious puberty in Turner syndrome variant.
作者信息
Baek Jong Uk, Park Hong Kyu, Shim Eun Jung, Hwang Il Tae
机构信息
Department of Pediatrics, Hallym University Sacred Heart Hospital, Anyang, Korea.
出版信息
J Pediatr Adolesc Gynecol. 2012 Oct;25(5):e113-4. doi: 10.1016/j.jpag.2012.05.017. Epub 2012 Jul 27.
BACKGROUND
Turner syndrome is due to the absence of all or significant parts of one of the sex chromosomes in females. Turner syndrome is a common cause of ovarian failure, and hypergonadotropic hypogonadism occurs in virtually all affected individuals. One case of a variant Turner syndrome with precocious puberty is presented.
CASE
An eight-year-old girl was referred with complaints of short stature and breast budding. A physical examination revealed a Tanner stage III for breast development and her bone age was 11 years. Chromosome analysis showed a karyotype of 46,X,del(x)(p11.2).
SUMMARY AND CONCLUSION
To preserve growth potential, careful examinations are recommended for pediatric patients with an unusual growth pattern.
背景
特纳综合征是由于女性的一条性染色体全部或大部分缺失所致。特纳综合征是卵巢功能衰竭的常见原因，几乎所有受影响个体都会出现高促性腺激素性性腺功能减退。本文报告一例伴有性早熟的特纳综合征变异型病例。
病例
一名8岁女孩因身材矮小和乳房发育而前来就诊。体格检查显示乳房发育处于坦纳Ⅲ期，骨龄为11岁。染色体分析显示核型为46,X,del(x)(p11.2)。
总结与结论
为保留生长潜力，建议对生长模式异常的儿科患者进行仔细检查。
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