Inherited Adrenal Hypoplasia: Not Just for Kids!

Lin Lin; John C. Achermann

Disclosures

Clin Endocrinol. 2004;60(5) 

In This Article

Triple A (Allgrove) Syndrome

Triple A syndrome (Alacrima, Achalasia, Addison's disease) is a well-recognized condition that can present at various ages with isolated adrenal failure, alacrima or upper gastrointestinal abnormalities such as achalasia of the oesophagus (Huebner et al., 2002; OMIM 605378). The penetrance of this condition within families can be highly variable, and neurological (e.g. pupillary and cranial nerve abnormalities, optic atrophy, autonomic dysfunction, distal motor neuropathy, amyotrophy) and dermatological features are increasingly recognized as part of this syndrome (Houlden et al., 2002).

Recently, the gene responsible for Triple A has been identified and termed AAAS (Tullio-Pelet et al., 2000; Handschug et al., 2001). The product, ALADIN, is a putative signalling molecule with WD-repeat motifs. To date, mutations in AAAS have been identified in more than 80 families with this condition (Huebner et al., 2002). The structural alterations induced by these amino acid substitutions may affect the ability of the protein to localize to nuclear pore complexes (Cronshaw & Matunis, 2003). Detailed genetic analysis is also revealing the true variability of features within families, with some 'adrenal only' forms described (Huebner et al., 2002; Prpic et al., 2003). Therefore, Triple A syndrome should be considered in all patients presenting with adrenal failure, especially when vague neurological features are present or if there is a family history of associated features.

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