Naville D, Penhoat A, Bégeot M
INSERM-INRA U 418, IFR 62 and Université Claude-Bernard Lyon I, Hôpital Debrousse, 69322 Lyon Cedex 05, France.
Ann Endocrinol (Paris). 2000 Nov;61(5):428-39.
ACTH resistance syndromes consist of a group of rare disorders with three various molecular etiologies. However, all these diseases share the feature of severe glucocorticoid adrenal insufficiency. The simplest disorder is the isolated familial glucocorticoid deficiency (FGD) which could be divided in two different types. In FGD type 1, ACTH receptor mutations have been described and are responsible for the loss of function of the receptor, leading to the ACTH unresponsiveness. Patients with FGD type 2 show the same phenotype as in the previous syndrome but no mutation of the ACTH receptor has been reported in these cases. It has been proposed that morbidity of one or several other gene(s) could be responsible for this syndrome although there is no information about their chromosomal localization. The third molecular form of the disease corresponds to the Triple A syndrome for the triad of association "ACTH resistance, Achalasia, Alacrima", thus reflecting a large spectrum of additional symptoms. It has recently been reported that the morbid gene in this last syndrome maps to chromosome 12q13. The aim of this review is to examine the clinical aspect as well as the current knowledge of the molecular and genetic aspects of the different forms of the disease.
促肾上腺皮质激素（ACTH）抵抗综合征是一组由三种不同分子病因引起的罕见疾病。然而，所有这些疾病都具有严重糖皮质激素性肾上腺皮质功能不全的特征。最简单的疾病是孤立性家族性糖皮质激素缺乏症（FGD），它可分为两种不同类型。在FGD 1型中，已描述了促肾上腺皮质激素受体突变，这些突变导致受体功能丧失，从而导致对促肾上腺皮质激素无反应。FGD 2型患者表现出与前一种综合征相同的表型，但在这些病例中未报告促肾上腺皮质激素受体突变。有人提出，一种或几种其他基因的发病可能是导致该综合征的原因，尽管目前尚无关于它们染色体定位的信息。该疾病的第三种分子形式对应于“ACTH抵抗、贲门失弛缓症、无泪症”三联征的三联征A综合征，因此反映出一系列其他症状。最近有报道称，最后一种综合征中的致病基因定位于12号染色体q13区。本综述的目的是研究该疾病不同形式的临床情况以及分子和遗传方面的现有知识。
