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Clinical features and autoimmune associations in patients presenting with Idiopathic Isolated ACTH deficiency
Author(s) -
Han Anne Marie,
Hunter Steven,
Smith Diarmuid,
Sherlock Mark,
O'Halloran Domhnall,
Thompson Christopher J.
Publication year - 2018
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/cen.13536
Subject(s) - medicine , etiology , adrenocorticotropic hormone , endocrinology , adrenal insufficiency , hormone , pituitary disease , pediatrics
Summary Objective Idiopathic Isolated ATCH deficiency ( IIAD ) is a rare cause of secondary adrenal insufficiency. As the condition is rare, and the diagnostic criteria ill‐defined, there are few good clinical descriptions in the literature. We have described presenting features, autoimmune associations, natural history and responses to CRF , in a large case series of patients presenting with IIAD . Design This is a retrospective case note analysis with data derived from the recently commenced National Pituitary Database of Ireland. Patients Twenty‐three patients with isolated ACTH deficiency were identified. A thorough chart and biochemistry review was performed. Results Twenty‐three patients were examined (18 women and 5 men). Age at presentation ranged from 17 to 88 years, (median 48 years). Most patients complained of fatigue; 9 patients presented with hyponatraemia, 13 had autoimmune illnesses (primary hypothyroidism, n = 9). CRF stimulation testing was available in 12 of the 23 patients, 5 of whom demonstrated a rise in plasma ACTH concentrations, indicating hypothalamic, rather than pituitary aetiology. Two patients recovered ACTH secretion, and 2 patients progressed to have other pituitary hormone deficiencies. Conclusions IIAD typically presents with insidious symptoms. Euvolaemic hyponatraemia is common at diagnosis. It is associated with autoimmune diseases, particularly primary hypothyroidism. As two patients recovered ACTH secretion, and two progressed to other pituitary hormone deficits, repeat pituitary testing should be considered, to identify recovery of function, or progression to other hormone deficits.