Boulware S D
Yale University School of Medicine, New Haven, CT 06520, USA.
Curr Opin Pediatr. 1997 Aug;9(4):443-6. doi: 10.1097/00008480-199708000-00022.
An almost 3-year-old boy was evaluated for pubic hair and unilateral testicular enlargement 1 week after resection of an astrocytoma of the posterior fossa. Rather than the expected diagnosis of central precocity due to increased intracranial pressure, a diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) with testicular adrenal rest cells was made. The differential diagnosis, laboratory evaluation, and currently accepted medical management of congenital adrenal hyperplasia are described.
一名近3岁男孩在切除后颅窝星形细胞瘤1周后,因出现阴毛和单侧睾丸肿大而接受评估。诊断结果并非因颅内压升高所预期的中枢性性早熟,而是先天性肾上腺皮质增生症(21-羟化酶缺乏症)伴睾丸肾上腺残余细胞。文中描述了先天性肾上腺皮质增生症的鉴别诊断、实验室评估及目前公认的药物治疗方法。