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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

Triple-A syndrome.

Vijaya Sarathi1, Nalini S Shah

  • 1Department of Endocrinology, King Edward Memorial Hospital, Parel, Mumbai, India.

Advances in Experimental Medicine and Biology
|August 7, 2010
PubMed
Summary
This summary is machine-generated.

Triple-A syndrome, also known as Allgrove syndrome, is a rare genetic disorder affecting adrenal glands, tear production, and esophageal function. Early diagnosis and management of adrenal insufficiency, alacrimia, and achalasia cardia are crucial for patient outcomes.

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Last Updated: Jun 10, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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Published on: August 20, 2019

Area of Science:

  • Genetics
  • Endocrinology
  • Gastroenterology

Background:

  • Triple-A syndrome (Allgrove syndrome) is a rare autosomal recessive disorder.
  • Characterized by a triad of ACTH-resistant adrenal insufficiency, alacrimia, and achalasia cardia.
  • Caused by mutations in the AAAS gene encoding the ALADIN protein.

Purpose of the Study:

  • To summarize the key features, diagnosis, and management of Triple-A syndrome.
  • To highlight the genetic basis and clinical manifestations.
  • To provide an overview of current treatment strategies.

Main Methods:

  • Review of literature on Triple-A syndrome.
  • Analysis of clinical presentation, genetic findings, and diagnostic methods.
  • Summary of treatment approaches for the core symptoms.

Main Results:

  • Alacrimia is often the earliest, most consistent feature, though not always the presenting one.
  • Adrenal insufficiency and achalasia cardia are typical early manifestations.
  • Neurological features, including autonomic dysfunction, polyneuropathy, and amyotrophy, develop later.

Conclusions:

  • Triple-A syndrome requires a multidisciplinary approach for diagnosis and management.
  • Early recognition of alacrimia, adrenal insufficiency, and achalasia cardia is vital.
  • While AAAS gene mutations are common, genotype-phenotype correlations are not always definitive.