Premature Thelarche and the PURA Syndrome
Premature Thelarche and the PURA Syndrome
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DOI：
10.1097/aog.0000000000002047
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发表时间：
2017-06-01
影响因子：
7.2
通讯作者：
Hansen, Keith A.
中科院分区：
文献类型：
--
作者：
Rezkalla, Joshua;Von Wald, Tiffany;Hansen, Keith A.
背景技术背景：乳房早长是一种自限性疾病，其特征是8岁以下女孩的坦纳II-III期乳房发育，没有青春期提前的证据。评估集中在排除中枢或外周原因性早熟。案例：一个女孩，2岁4个月，具有深刻的肌张力减退和发育里程碑延迟提出与坦纳II乳房发育，卵泡刺激素水平升高，抑制促黄体生成素水平，正常生长和骨骼发育，青春期前子宫长度和卵巢体积。监测至8岁，未发现青春期进展。8年时的全外显子组测序显示富含嘌呤的元素结合蛋白A（PURA）基因中存在常染色体显性突变。结论：富含嘌呤的元素结合蛋白A综合征可能与乳房早发育有关。
BACKGROUND: Premature thelarche is a self-limited condition characterized by Tanner stage II-III breast development in girls younger than 8 years of age with no evidence of advancing puberty. Evaluation concentrates on excluding central or peripheral causes of precocious puberty.CASE: A girl aged 2 years 4 months with profound hypotonia and delayed developmental milestones presented with Tanner II breast development, elevated follicle-stimulating hormone levels, suppressed luteinizing hormone level, normal growth and skeletal development, and prepubertal uterine length and ovarian volume. Monitoring until 8 years of age revealed no pubertal progression. Whole exome sequencing at 8 years revealed an autosomal-dominant mutation in the purine-rich element-binding protein A (PURA) gene. Previous patients with PURA syndrome have had pituitary dysfunction and precocious puberty.CONCLUSION: Purine-rich element-binding protein A syndrome can be associated with premature thelarche.