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Article

Two cases of Allgrove syndrome with mutations in the AAAS gene.

Endocrine journal - 1 Oct 2004

Kinjo Saori, Takemoto Megumi, Miyako Kenichi, Kohno Hitoshi, Tanaka Toshiaki, Katsumata Noriyuki

Abstract excerpt

Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of adrenal insufficiency, achalasia and alacrima. This syndrome, also known as triple A syndrome, is now known to be caused by mutations in the AAAS gene. In the present study, we report two new patients of Allgrove syndrome with mutations in the AAAS gene. Patient 1 was a 22-year-old Japanese woman, born to consanguineous...

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PMID: 15516781
DOI: 10.1507/endocrj.51.473

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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