FAMILIAL ADRENOCORTICOTROPIN-INDEPENDENT CUSHINGS-SYNDROME WITH BILATERAL MACRONODULAR ADRENAL-HYPERPLASIA

被引:68
作者
FINDLAY, JC
SHEELER, LR
ENGELAND, WC
ARON, DC
机构
[1] CASE WESTERN RESERVE UNIV, SCH MED, DEPT VET AFFAIRS MED CTR, DIV ENDOCRINOL & HYPERTENS, CLEVELAND, OH 44106 USA
[2] CLEVELAND CLIN EDUC FDN, DEPT ENDOCRINOL, CLEVELAND, OH 44106 USA
[3] RHODE ISL HOSP, DEPT SURG, PROVIDENCE, RI 02903 USA
关键词
D O I
10.1210/jc.76.1.189
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Familial Cushing's syndrome is rare, and when it occurs, it is usually associated with primary micronodular dysplasia. We report two cases, a mother and daughter, who each presented with clinical features of Cushing's syndrome at age 38 yr and were found to have ACTH-independent macronodular adrenal hyperplasia. In each case, bilateral adrenalectomy revealed the massively thickened adrenal cortex with nodules up to 1.3 cm in diameter and hyperplasia between nodules. Dynamic testing showed no suppression of free cortisol with high dose dexamethasone and no stimulation of 17-hydroxycorticosteroids with metyrapone. Two samples of serum obtained preoperatively from one patient that showed ACTH immunoreactivity of 4.6 and less than 2.2 pmol/L, respectively, each showed less than 2.2 pmol/L ACTH bioactivity. The lack of suppression with high dose dexamethasone, lack of stimulation with metyrapone, and low levels of ACTH immunoreactivity and bioactivity suggest that the bilateral hyperplasia was not dependent upon ACTH. These patients represent the first cases of ACTH-independent macronodular adrenal hyperplasia occurring in two generations of one family and illustrate the expanding clinical spectrum of Cushing's syndrome.
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页码:189 / 191
页数:3
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