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Related Experiment Videos

Triple A syndrome: genotype-phenotype assessment.

I Prpic1, A Huebner, M Persic

  • 1Department of Pediatrics 'KANTRIDA', University Hospital Center Rijeka, Rijeka, Croatia. igorp@medri.hr

Clinical Genetics
|May 20, 2003
PubMed
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Triple A syndrome, characterized by achalasia, alacrima, and adrenal insufficiency, shows significant phenotypic variability. Molecular genetic analysis of the AAAS gene is crucial for diagnosis, even with isolated symptoms.

Area of Science:

  • Genetics and Molecular Biology
  • Endocrinology
  • Gastroenterology
  • Neurology

Background:

  • Triple A syndrome (Allgrove syndrome) is an autosomal-recessive disorder.
  • Classic presentation includes achalasia, alacrima, and ACTH-resistant adrenal insufficiency.
  • Associated neurological and dermatological features can also occur.

Purpose of the Study:

  • To investigate the phenotypic variability of Triple A syndrome.
  • To highlight the importance of molecular genetic analysis in diagnosis.
  • To suggest broadening diagnostic criteria for Triple A syndrome.

Main Methods:

  • Clinical data collection from three unrelated patients.
  • Molecular genetic analysis of the AAAS gene.

Related Experiment Videos

  • Phenotypic assessment including neurological evaluation.

    • Main Results:

    • Demonstrated marked phenotypic variability in Triple A syndrome.
    • Confirmed diagnosis through molecular analysis of the AAAS gene.
    • Identified a case where isolated achalasia led to diagnosis solely via genetic testing.

    Conclusions:

    • Triple A syndrome diagnosis should be considered even with one or two cardinal symptoms.
    • Molecular genetic analysis of the AAAS gene is essential for accurate diagnosis.
    • Patients with suggestive symptoms require thorough neurological investigation and genetic testing.