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Triple A syndrome: two novel mutations in the AAAS gene
Susanne Thümmler1, Angela Huebner, Elisabeth Baechler-Sadoul
1Lenval Foundation-Children's Hospital, Paediatric Department, 57 Avenue de la Californie, Nice, 06200, France.
BMJ Case Reports
|June 21, 2011
Summary
Triple A syndrome, a rare genetic disorder, presents with adrenal insufficiency, alacrima, and achalasia. This case highlights a novel mutation in the AAAS gene, expanding our understanding of this complex condition.
Area of Science:
- Genetics
- Endocrinology
- Rare Diseases
Background:
- Triple A syndrome is a rare autosomal recessive disorder.
- Characterized by a triad of adrenal insufficiency, alacrima, and achalasia.
- Clinical presentation can be highly variable.
Purpose of the Study:
- To report a case of Triple A syndrome in a pediatric patient.
- To identify the genetic mutation responsible for the condition in this patient.
- To contribute to the understanding of AAAS gene mutations.
Main Methods:
- Clinical examination and hormonal analysis.
- Molecular analysis of the AAAS gene.
- Genetic sequencing to identify mutations.
Main Results:
- A 7-year-old boy presented with fatigue, muscle weakness, hyperpigmentation, achalasia, and alacrima.
- Hormonal analysis confirmed isolated glucocorticoid deficiency.
- Molecular analysis revealed compound heterozygous mutations (c.1304delA and c.1292-1294delTTCinsA) in the AAAS gene.
Conclusions:
- The patient was diagnosed with Triple A syndrome based on clinical triad and confirmed by genetic findings.
- The identified novel compound heterozygous mutations expand the spectrum of known AAAS gene alterations.
- This case underscores the importance of genetic testing for accurate diagnosis and management of Triple A syndrome.
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