Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Phenotypic heterogeneity in AAAS gene mutation.

P Barat1, C Goizet, A Tullio-Pelet

  • 1Department of Paediatrics, Hôpital Pellegrin-Enfants, Bordeaux, France. baratp@club-internet.fr

Acta Paediatrica (Oslo, Norway : 1992)
|September 24, 2004
PubMed
Summary

Triple A syndrome (AAAS gene mutation) presents with varied symptoms, even within families. One sibling had acute adrenal insufficiency and intellectual disability, while the other showed achalasia and chronic adrenal failure.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.

Revue neurologique·2025
Same author

Assessment of hemodynamic parameters and caudal vena cava-to-aorta ratio pre- and post-pericardiocentesis in dogs with cardiac tamponade.

The Journal of small animal practice·2024
Same author

Ultrasonographic measurement of caudal vena cava to aorta ratio during fluid resuscitation of dogs with spontaneous circulatory shock.

The Journal of small animal practice·2023
Same author

Evaluation of catch-up growth in severe pediatric Hashimoto's hypothyroidism.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2023
Same author

Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.

Scientific reports·2022
Same author

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

Orphanet journal of rare diseases·2022

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Triple A syndrome, caused by mutations in the AAAS gene, is a rare disorder.
  • It is characterized by the triad of achalasia, alacrima, and adrenal insufficiency.
  • Phenotypic variability is known, but intra-familial heterogeneity warrants further investigation.

Observation:

  • Two siblings of North African origin with a confirmed AAAS gene mutation were studied.
  • The 8-year-old brother presented with acute adrenal insufficiency and mental retardation.
  • The 6-year-old sister's diagnosis was suggested by her history of symptomatic achalasia and chronic adrenal failure.

Findings:

  • The study highlights significant phenotypic heterogeneity in Triple A syndrome.
  • Variable intra-familial expression of AAAS gene mutations was observed.

Related Experiment Videos

  • The presentation ranged from acute adrenal crisis with cognitive impairment to chronic adrenal insufficiency with esophageal dysfunction.

    • Implications:

    • These cases underscore the importance of considering AAAS gene mutations in patients with adrenal insufficiency and neurological or gastrointestinal symptoms.
    • Recognizing the spectrum of clinical manifestations is crucial for timely diagnosis and management.
    • Further research into genotype-phenotype correlations in Triple A syndrome is needed to understand the basis of this variability.