Department of Urology, Chonnam National University Medical School, Gwangju, Korea.
Urology. 2010 Jan;75(1):176-8. doi: 10.1016/j.urology.2009.04.073. Epub 2009 Jul 17.
Lipoid congenital adrenal hyperplasia (lipoid CAH) is a rare disorder of steroid biosynthesis that is caused by a molecular defect in the steroidogenic acute regulatory protein. Patients with lipoid CAH usually experience life-threatening adrenal insufficiency and develop female external genitalia in both genetic sexes because of deficient gonadal steroid synthesis. Little is known regarding testicular histology in patients with lipoid CAH, and less is known about the changes in testicular histology with growth. This article describes testicular histopathology in a patient with 46, XY lipoid CAH who underwent orchiectomy at the age of 8 years.
脂质型先天性肾上腺皮质增生症（lipoid CAH）是一种类固醇生物合成的罕见疾病，由类固醇生成急性调节蛋白的分子缺陷引起。脂质型 CAH 患者通常会经历危及生命的肾上腺功能不全，并因性腺类固醇合成不足而在两种遗传性别中出现女性外生殖器。关于脂质型 CAH 患者的睾丸组织学知之甚少，关于生长过程中睾丸组织学变化的了解就更少了。本文描述了一位 46,XY 脂质型 CAH 患者的睾丸组织病理学，该患者在 8 岁时接受了睾丸切除术。
