Thistlethwaite D, Darling J A, Fraser R, Mason P A, Rees L H, Harkness R A
Arch Dis Child. 1975 Apr;50(4):291-7. doi: 10.1136/adc.50.4.291.
The clinical and biochemical findings are described in 2 brothers who had intermittent hypoglycaemia generally precipitated by the "stress" of infection. Both were tall and pigmented. Both boys showed a failure of adrenocortical response to ACTH which was progressive in the eldest boy. The diagnosis of familial glucocorticoid deficiency (hereditary adrenocortical unresponsiveness) was confirmed by the absence of electrolyte imbalance even on a low sodium diet, and by very high levels of ACTH in plasma. High levels of deoxycorticosterone (DOC) were found in both children with normal levels of other plasma corticosteroids. It is suggested that the high levels of DOC may be in some way related to the apparent persistence of a "fetal" type of adrenocortical steroid biosynthesis for 18 months or more in these boys. After the diagnosis, established by relatively simple methods, treatment with cortisone acetate has 0een highly effective.
本文描述了2名兄弟的临床和生化检查结果，他们均有间歇性低血糖，通常由感染“应激”诱发。两人身材高大且有色素沉着。两个男孩均表现出肾上腺皮质对促肾上腺皮质激素（ACTH）无反应，且在年长男孩中这种无反应呈进行性发展。即使在低钠饮食情况下也无电解质失衡，且血浆中ACTH水平极高，这证实了家族性糖皮质激素缺乏症（遗传性肾上腺皮质无反应性）的诊断。在两个孩子中均发现脱氧皮质酮（DOC）水平升高，而其他血浆皮质类固醇水平正常。有人提出，DOC水平升高可能在某种程度上与这些男孩中“胎儿”型肾上腺皮质类固醇生物合成明显持续18个月或更长时间有关。通过相对简单的方法确诊后，醋酸可的松治疗效果极佳。
