Pediatric Endocrinology Unit, Department of Mother and Child, University Hospital Federico II, Endo-ERN Center for Rare Endocrine Conditions, Naples, Italy.
Pediatric Endocrinology Unit, Department of Translational Medical Sciences, University of Naples Federico II, Endo-ERN Center for Rare Endocrine Conditions, Naples, Italy.
J Clin Endocrinol Metab. 2021 Mar 8;106(3):762-773. doi: 10.1210/clinem/dgaa881.
Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children.
To describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a large cohort of children with PAI.
Data from 803 patients from 8 centers of Pediatric Endocrinology were retrospectively collected.
The following etiologies were reported: 85% (n = 682) congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD); 3.1% (n = 25) X-linked adrenoleukodystrophy; 3.1% (n = 25) autoimmune polyglandular syndrome type 1; 2.5% (n = 20) autoimmune adrenal insufficiency; 2% (n = 16) adrenal hypoplasia congenital; 1.2% (n = 10) non-21-OHD CAH; 1% (n = 8) rare syndromes; 0.6% (n = 5) familial glucocorticoid deficiency; 0.4% (n = 3) acquired adrenal insufficiency; 9 patients (1%) did not receive diagnosis. Since 21-OHD CAH has been extensively characterized, it was not further reviewed. In 121 patients with a diagnosis other than 21-OHD CAH, the most frequent symptoms at diagnosis were fatigue (67%), hyperpigmentation (50.4%), dehydration (33%), and hypotension (31%). Elevated adrenocorticotropic hormone (96.4%) was the most common laboratory finding followed by hyponatremia (55%), hyperkalemia (32.7%), and hypoglycemia (33.7%). The median age at presentation was 6.5 ± 5.1 years (0.1-17.8 years) and the mean duration of symptoms before diagnosis was 5.6 ± 11.6 months (0-56 months) depending on etiology. Rate of adrenal crisis was 2.7 per 100 patient-years. Three patients died from the underlying disease. Adult height, evaluated in 70 patients, was -0.70 ± 1.20 standard deviation score.
We characterized one of the largest cohorts of children with PAI aiming to improve the knowledge on diagnosis of this rare condition.
原发性肾上腺功能不全（PAI）是一种罕见且潜在危及生命的疾病，在儿童中特征描述较差。
描述一大组 PAI 儿童的病因、表现、生长学结局、肾上腺危象的频率和死亡率。
回顾性收集了来自 8 个儿科内分泌中心的 803 名患者的数据。
报告了以下病因：85%（n=682）为先天性肾上腺增生症（CAH），由 21-羟化酶缺乏症（21-OHD）引起；3.1%（n=25）为 X 连锁肾上腺脑白质营养不良；3.1%（n=25）为自身免疫性多腺体综合征 1 型；2.5%（n=20）为自身免疫性肾上腺功能不全；2%（n=16）为先天性肾上腺发育不全；1.2%（n=10）为非 21-OHD CAH；1%（n=8）为罕见综合征；0.6%（n=5）为家族性糖皮质激素缺乏症；0.4%（n=3）为获得性肾上腺功能不全；9 名患者（1%）未接受诊断。由于 21-OHD CAH 已得到广泛描述，因此不再进一步审查。在 121 名诊断为非 21-OHD CAH 的患者中，最常见的诊断症状是疲劳（67%）、色素沉着过度（50.4%）、脱水（33%）和低血压（31%）。促肾上腺皮质激素升高（96.4%）是最常见的实验室发现，其次是低钠血症（55%）、高钾血症（32.7%）和低血糖（33.7%）。就诊时的中位年龄为 6.5±5.1 岁（0.1-17.8 岁），根据病因，诊断前症状的平均持续时间为 5.6±11.6 个月（0-56 个月）。肾上腺危象的发生率为每 100 患者年 2.7 例。有 3 名患者死于基础疾病。在 70 名患者中评估了成人身高，为-0.70±1.20 标准差评分。
我们对 PAI 患儿进行了最大规模的队列研究之一，旨在提高对这种罕见疾病的诊断认识。
