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The clinical and laboratory features of patients with triple A syndrome: a single-center experience in Turkey.

Ruken YıldırımEdip UnalAysel Tekmenuray-UnalFunda Feryal TaşŞervan ÖzalkakAtilla ÇayırMehmet Nuri Özbek
Published in: Endocrine (2022)
We detected two novel variants in the AAAS gene. While the classic triad is present in 66.7% of the cases, neurological dysfunction, skin and dental pathologies also occur quite frequently. The earliest and most common finding of TAS is alacrimia. Therefore, adrenal insufficiency should be investigated in all patients with alacrimia and if necessary, genetic analysis should be performed for TAS. In addition, TAS should be followed up with a multidisciplinary approach since it involves many systems.
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