Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.

doi:10.1007/s42000-020-00217-7

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Article

Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.

Hormones (Athens, Greece) - 1 Mar 2021

Jayant Satyam Singh, Gupta Rahul, Agrawal Kanhaiya, Das Liza, Dutta Pinaki, Bhansali Anil

Abstract excerpt

INTRODUCTION: Triple A (Allgrove) syndrome is a rare autosomal recessive disorder characterized by cardinal features of primary adrenal insufficiency (AI) due to adrenocorticotropic hormone (ACTH) resistance, achalasia, and alacrima. It is frequently associated with neurological manifestations such as autonomic dysfunction, cognitive dysfunction, cranial nerve, or motor involvement. Amyotrophy/motor neuron...

Topics

Adrenal Cortex Hormones
Adrenal Insufficiency
Calcium Channel Blockers
Esophageal Achalasia
Humans
Lubricant Eye Drops
Male
Muscular Atrophy, Spinal
Mutation
Nerve Tissue Proteins
Nifedipine
Nuclear Pore Complex Proteins
Young Adult

Source

Open in PubMed

Identifiers

PMID: 32700293
DOI: 10.1007/s42000-020-00217-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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