In:
Journal of Pediatric Endocrinology and Metabolism, Walter de Gruyter GmbH, Vol. 28, No. 7-8 ( 2015-01-1)
Abstract:
Triple A syndrome, formerly known as Allgrove syndrome, is an autosomal recessive disorder characterized clinically by adrenal insufficiency, alacrima, achalasia, and neurological abnormalities. We report a 17-year-old boy presented to the endocrine clinic with delayed puberty and a 4-year’s history of fatigue and muscle weakness. He had achalasia, alacrima, and skin and mucosal hyperpigmentation. Hormonal assessment revealed isolated glucocorticoid deficiency. Clinical diagnosis of triple A syndrome was confirmed by sequencing the entire coding region including exon-intron boundaries of the
Type of Medium:
Online Resource
ISSN:
2191-0251
,
0334-018X
DOI:
10.1515/jpem-2014-0401
Language:
Unknown
Publisher:
Walter de Gruyter GmbH
Publication Date:
2015
detail.hit.zdb_id:
2583847-7
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