Triple A syndrome: genotype-phenotype assessment.

[triple a syndrome]

The triple A or Allgrove syndrome is an autosomal-recessive disease (MIM *231550 ) characterized by the triad of achalasia , alacrima and adrenocorticotropic hormone (ACTH )-resistant adrenal insufficiency . Associated features of the syndrome are neurological and dermatological abnormalities . Until the discovery of the AAAS gene as the responsible gene in triple A syndrome , the diagnosis was based on characteristic clinical features . Here we present the clinical and molecular genetic data which demonstrated the marked phenotypic variability in three unrelated patients with triple A syndrome . The final diagnosis of triple A syndrome was confirmed by molecular analysis . In one patient with isolated achalasia , the diagnosis of triple A syndrome could only be made on the basis of the molecular genetic analysis of the AAAS gene . We therefore suggest that the diagnosis of triple A syndrome should be considered in patients who exhibit only one or two of the main symptoms (i .e . alacrima , achalasia or adrenal insufficiency ). These patients require careful neurological investigation , and mutation analysis of the AAAS gene should be performed .

Diseases
Validation

Diseases presenting "adrenal insufficiency" symptom

adrenal incidentaloma

adrenomyeloneuropathy

aromatase deficiency

congenital adrenal hyperplasia

cushing syndrome

familial hypocalciuric hypercalcemia

neonatal adrenoleukodystrophy

scrub typhus

triple a syndrome

von hippel-lindau disease

x-linked adrenoleukodystrophy

This symptom has already been validated