Metherell Louise A, Chan Li F, Clark Adrian J L
Centre for Endocrinology, William Harvey Research Institute, Queen Mary's School of Medicine and Dentistry at Barts & The London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.
Best Pract Res Clin Endocrinol Metab. 2006 Dec;20(4):547-60. doi: 10.1016/j.beem.2006.09.002.
Inherited adrenocorticotropin (ACTH) resistance diseases are rare and include triple A syndrome and familial glucocorticoid deficiency (FGD). These conditions show genetic heterogeneity, i.e., the identical clinical phenotype may result from defects in more than one gene. Clinically, FGD is characterized only by ACTH resistance, while the triple A syndrome exhibits a variety of additional clinical features. FGD is caused by mutations in the ACTH receptor (melanocortin 2 receptor, MC2R) and the recently identified melanocortin 2 receptor accessory protein (MRAP) genes. In addition, linkage to a locus on chromosome 8 has been demonstrated. The identification of further genes in ACTH resistance syndromes may reveal novel aspects of MC2R signalling and trafficking. This review will summarize the clinical, biochemical and genetic aspects of these rare but informative diseases.
遗传性促肾上腺皮质激素（ACTH）抵抗性疾病较为罕见，包括三A综合征和家族性糖皮质激素缺乏症（FGD）。这些病症表现出遗传异质性，即相同的临床表型可能由多个基因的缺陷导致。临床上，FGD仅以ACTH抵抗为特征，而三A综合征则表现出多种其他临床特征。FGD由促肾上腺皮质激素受体（黑皮质素2受体，MC2R）和最近发现的黑皮质素2受体辅助蛋白（MRAP）基因的突变引起。此外，已证明与8号染色体上的一个位点存在连锁关系。ACTH抵抗综合征中其他基因的鉴定可能会揭示MC2R信号传导和运输的新方面。本综述将总结这些罕见但信息丰富的疾病的临床、生化和遗传方面。
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