Department of Obstetrics & Gynecology, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota.
Obstet Gynecol. 2017 Jun;129(6):1037-1039. doi: 10.1097/AOG.0000000000002047.
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.
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.
Purine-rich element-binding protein A syndrome can be associated with premature thelarche.
性早熟是一种自限性疾病，其特征是 8 岁以下女孩的乳房发育达到 Tanner Ⅱ-Ⅲ期，且无青春期进展的证据。评估集中于排除性早熟的中枢或外周原因。
一名 2 岁 4 个月大的女孩，存在严重的肌张力低下和发育里程碑延迟，出现 Tanner II 期乳房发育、卵泡刺激素水平升高、黄体生成素水平抑制、生长和骨骼发育正常以及青春期前子宫长度和卵巢体积。监测至 8 岁时，未见青春期进展。8 岁时进行全外显子组测序显示嘌呤丰富元件结合蛋白 A（PURA）基因存在常染色体显性突变。先前患有 PURA 综合征的患者存在垂体功能障碍和性早熟。
嘌呤丰富元件结合蛋白 A 综合征可与性早熟有关。
