A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia.
Recep PolatA UstyolE TuncezT GuranPublished in: Journal of endocrinological investigation (2019)
Clinical symptoms vary even among patients carrying the same mutation. Triple A syndrome should be considered in the etiology of non-CAH PAI in Arab populations and in Southeast Turkey. Any child with non-CAH PAI should be evaluated for the presence of alacrima and/or achalasia or family history of alacrima and/or achalasia. Children with alacrima and/or achalasia should also be investigated for adrenal insufficiency. Definitive molecular diagnosis is essential for early diagnosis and management of adrenal insufficiency, neurological symptoms, and growth retardation in patients and early diagnosis of as yet asymptomatic cases in the family, together with genetic counseling.
Keyphrases
- end stage renal disease
- sleep quality
- ejection fraction
- chronic kidney disease
- young adults
- mental health
- peritoneal dialysis
- genome wide
- prognostic factors
- gene expression
- squamous cell carcinoma
- mass spectrometry
- depressive symptoms
- patient reported outcomes
- patient reported
- human immunodeficiency virus
- blood brain barrier
- single molecule