Rare Causes of Pediatric Primary Adrenal Insufficiency: An Observational Cohort Study
Authors' conclusion
The wide range of rare causes of PAI raises diagnostic challenges. In most cases, however, the cause can be determined, allowing optimal therapy. Phenotypic characteristics-including age at PAI onset, growth patterns, pubertal development, and body mass index-vary according to the underlying genotype (i.e., myelodysplasia, infections, restriction of growth, adrenal hypoplasia, genital phenotypes and enteropathy syndrome Triple A syndrome, and NNT deficiency). Targeted monitoring of these features is therefore essential.
Study context
- Population
- Patients under 18 years diagnosed with primary adrenal insufficiency (PAI), 1980–202359 with rare causes
- Participants
- 172 participants
- Exposure
- Rare causes of PAI vs 21-hydroxylase deficiency
- Rare causes of PAIn = 59
- 21-hydroxylase deficiencyn = 113reference
- Outcome
- Rare causes of PAI
Methodological detailsobservational, single-centre
- Observational
- Single-centre
Main finding
As reported in the abstract
Rare causes of PAI
59
34%
Monogenic diseases
n = 38, 64%
Auto-immune disorders
n = 15, 25%
Bilateral adrenal hemorrhage
n = 3
Observational data: associations, not effects.
Further findings
Outcomes in rare causes of PAI · median follow-up 7.6 years
- Mortality
- 6 of 59 (10%)
- Acute adrenal crisis, usually due to poor treatment adherence
- 26 (45%)
- Excess weight
- 16/59, 27%
Puberty (37 with available data)
- Normal
- 26 (72%)
- Early
- 6 (17%)
- Delayed
- 5 (14%)
Growth
- Attained adult height
- 28 (48%)
- Median final height, males
- −1.1 standard deviation score (SDS)
- Median final height, females
- −0.4 SDS
- Median height in 27 patients still growing
- −0.4 SDS
- Growth outcomes described as satisfactory
Original publication
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