Related Experiment Video
Updated: Nov 28, 2025
A Novel Method: Super-selective Adrenal Venous Sampling
Published on: September 15, 2017
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort
Donatella Capalbo1, Cristina Moracas2, Marco Cappa3
1Pediatric Endocrinology Unit, Department of Mother and Child, University Hospital Federico II, Endo-ERN Center for Rare Endocrine Conditions, Naples, Italy.
Insights
Primary adrenal insufficiency (PAI) in children is rare but serious. This study characterizes a large cohort, detailing causes like congenital adrenal hyperplasia, symptoms, and outcomes to improve diagnosis and management of this condition.
Area of Science:
- Pediatric Endocrinology
- Rare Diseases
- Endocrine Disorders
Background:
- Primary adrenal insufficiency (PAI) is a rare, life-threatening pediatric endocrine disorder with limited characterization.
- Understanding PAI's diverse etiologies and clinical presentations in children is crucial for timely diagnosis and effective management.
Purpose of the Study:
- To describe the causes, clinical presentation, auxological outcomes, adrenal crisis frequency, and mortality in a large cohort of children with PAI.
- To enhance the understanding and diagnosis of PAI in pediatric populations.
Main Methods:
- Retrospective data collection from 803 pediatric patients across 8 centers.
- Analysis of etiologies, symptoms, laboratory findings, age at presentation, and outcomes for children with PAI (excluding 21-hydroxylase deficiency congenital adrenal hyperplasia).
Main Results:
- Congenital adrenal hyperplasia (21-OHD) was the most common cause (85%).
- In non-21-OHD CAH patients, common symptoms included fatigue, hyperpigmentation, dehydration, and hypotension.
- Elevated ACTH, hyponatremia, hypoglycemia, and hyperkalemia were key laboratory findings.
Conclusions:
- This study provides insights into one of the largest pediatric PAI cohorts.
- Findings aim to improve the diagnostic knowledge base for this rare condition in children.
Context:
Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children.
Objective:
To describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a large cohort of children with PAI.
Patients And Methods:
Data from 803 patients from 8 centers of Pediatric Endocrinology were retrospectively collected.
Results:
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.
Conclusions:
We characterized one of the largest cohorts of children with PAI aiming to improve the knowledge on diagnosis of this rare condition.
Related Concept Videos
01:27Adrenal Gland Disorders
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
01:30Attention-Deficit/Hyperactivity Disorder
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
01:31Hormones of the Adrenal Glands
The adrenal cortex, a powerhouse of hormone synthesis, generates over two dozen corticosteroid hormones. The zona glomerulosa produces mineralocorticoids, exemplified by aldosterone, influencing the electrolyte composition of body fluids. The synthesis of glucocorticoids such as cortisol and...
01:17Anatomy of the Adrenal Glands
These glands possess a distinctive yellow tinge due to the stored cholesterol and fatty acids required for hormone synthesis. They are encased in a fibrous capsule and cushioned by fat.
The adrenal gland comprises two distinct...
01:37Hypothalamic-Pituitary Axis
01:15Hypoglycemia and Glucagon