一名患有普拉德-威利综合征和先天性肾上腺皮质增生症的青少年男性的严重身材矮小：一个治疗难题。

Wasserman Meredith, Mulvihill Erin M, Ganan-Soto Angela, Uysal Serife, Quintos Jose Bernardo

The Warren Alpert Medical School, Brown University, Providence, RI, USA.

College of Human Ecology, Cornell University, Ithaca, NY, USA.

Case Rep Endocrinol. 2017;2017:4271978. doi: 10.1155/2017/4271978. Epub 2017 May 30.

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height.

由于21-羟化酶缺乏导致的先天性肾上腺皮质增生（CAH）会导致雄激素分泌过多，进而可能导致骨骺过早融合和身材矮小。普拉德-威利综合征（PWS）是一种遗传性疾病，由15号染色体上的缺陷引起，原因是父系缺失、母系单亲二体或印记缺陷。90%的PWS患者身材矮小。在本文中，我们报告了一名患有单纯男性化CAH和PWS的患者，该患者因CAH接受了过度的糖皮质激素治疗，而未因PWS补充生长激素，导致成年后身高明显矮小。