Avruskin T W, Tang S C, Juan C S, Mestel A L, Kishida S, David R, Drucker W D
Am J Med Sci. 1980 Sep-Oct;280(2):101-8. doi: 10.1097/00000441-198009000-00006.
A two-month-old female with clinical manifestations of Cushing's syndrome including mild virilization exhibited an unusual steroid pattern illustrating difficulties in diagnosis of this disorder in infancy. Unequivocal abnormalities were limited to serial elevations of serum cortisol concentration, hyperresponsiveness to ACTH, resistance of serum cortisol to dexamethasone suppression, and elevation of testosterone and dehydroepiandrosterone sulfate concentration. On the other hand, twenty-four hour urinary 17-hydroxysteroid, 17-ketosteroid, free cortisol, and 6B-hydroxycortisol excretion were normal for the age. At laparotomy the adrenals were only minimally enlarged, and their architecture was normal by light microscopy. Following total adrenalectomy, adrenal slices were transplanted into the rectus abdominis muscles. Progressive hypertension developed three weeks later, suggesting adrenal regeneration. The infant then developed acute Salmonella enteritis and expired. At autopsy, the adrenal transplant showed outer cortical preservation, inner zone degeneration, and some growth into the surrounding tissue. The unfavorable outcome notwithstanding, this study adds to existing data in the adult that adrenal autotransplantation may have significant therapeutic value in Cushing's syndrome treated by bilateral adrenalectomy.
一名两个月大的女性，临床表现为库欣综合征，包括轻度男性化，其类固醇模式异常，显示出婴儿期诊断该疾病存在困难。明确的异常仅限于血清皮质醇浓度持续升高、对促肾上腺皮质激素（ACTH）反应过度、血清皮质醇对地塞米松抑制有抵抗以及睾酮和硫酸脱氢表雄酮浓度升高。另一方面，24小时尿17-羟类固醇、17-酮类固醇、游离皮质醇和6β-羟皮质醇排泄量在该年龄正常。剖腹探查时，肾上腺仅轻度增大，光镜下其结构正常。全肾上腺切除术后，将肾上腺切片移植到腹直肌中。三周后出现进行性高血压，提示肾上腺再生。随后婴儿发生急性沙门氏菌肠炎并死亡。尸检时，肾上腺移植显示外层皮质保存、内层区域变性以及向周围组织有一些生长。尽管结果不佳，但这项研究为成人现有数据增添了内容，即肾上腺自体移植在双侧肾上腺切除治疗的库欣综合征中可能具有重要的治疗价值。
