特发性孤立性ATCH缺乏症(IIAD)是继发性肾上腺功能不全的罕见原因。由于这种情况很罕见,诊断标准不明确,文献中很少有好的临床描述。我们已经描述了呈现功能,自身免疫关联,自然史和对CRF的反应,在出现IIAD的大型病例系列中。
这是一项回顾性病例分析,数据来自最近开始的爱尔兰国家垂体数据库。
确定了23例单独的ACTH缺乏症患者。进行了全面的图表和生物化学审查。
检查了23名患者(18名女性和5名男性)。演讲年龄从17岁到88岁,(中位数48岁)。大多数患者抱怨疲劳;9例患者出现低钠血症,13人患有自身免疫性疾病(原发性甲状腺功能减退症,n=9)。23例患者中有12例进行了CRF刺激测试,其中5人显示血浆ACTH浓度升高,指示下丘脑,而不是垂体病因。两名患者恢复ACTH分泌,2例患者进展为其他垂体激素缺乏。
IIAD通常表现为隐匿症状。低钠血症在诊断时很常见。它与自身免疫性疾病相关,尤其是原发性甲状腺功能减退症。当两名患者恢复ACTH分泌时,还有两个进展为其他垂体激素缺陷,应该考虑重复垂体测试,为了识别功能的恢复,或进展为其他激素缺陷。
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.
This is a retrospective case note analysis with data derived from the recently commenced National Pituitary Database of Ireland.
Twenty-three patients with isolated ACTH deficiency were identified. A thorough chart and biochemistry review was performed.
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.
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.