[ACTH resistance syndromes].
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.
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INSERM-INRA U 418, IFR 62 and Université Claude-Bernard Lyon I, Hôpital Debrousse, 69322 Lyon Cedex 05, France.
Penhoat
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Bégeot
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D000324:Adrenocorticotropic Hormone; D004351:Drug Resistance; D005938:Glucocorticoids / Q000172:deficiency*; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D009154:Mutation; D011965:Receptors, Glucocorticoid / Q000235:genetics* / Q000378:metabolism; D013577:Syndrome
D005938:Glucocorticoids; D011965:Receptors, Glucocorticoid; D000324:Adrenocorticotropic Hormone