ArticleAnnals of pediatric endocrinology & metabolism2021
Diverse etiologies, diagnostic approach, and management of primary adrenal insufficiency in pediatric age.
Article in Annals of pediatric endocrinology & metabolism, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 11 citations in OpenAlex.
- An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl.Molecular genetics & genomic medicine · 2025Article
- Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature.Molecular genetics and metabolism reports · 2025Review
- Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases.Orphanet journal of rare diseases · 2025Article
- Overview of endocrine tumor syndromes manifesting as adrenal tumors.Ewha medical journal · 2024Review
- Pediatric Endocrine Hypertension Related to the Adrenal Glands.Ewha medical journal · 2023Review
- Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia.Reviews in endocrine & metabolic disorders · 2023Review
- Adrenal Dysfunction in Mitochondrial Diseases.International journal of molecular sciences · 2023Review
- Frequently Asked Questions in Patients With Adrenal Insufficiency in the Time of COVID-19.Frontiers in endocrinology · 2021Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary adrenal insufficiency (PAI) in pediatric age is a rare, but potentially fatal condition caused by diverse etiologies including biochemical defects of steroid biosynthesis, developmental abnormalities of the adrenal gland, or reduced responsiveness to adrenocorticotropic hormone. Compared to adult PAI, pediatric PAI is more often the result of genetic (monogenic, syndromic disorders) than acquired conditions. During the past decade, rare monogenic disorders associated with PAI have helped unravel the underlying novel molecular genetic mechanism. The diagnosis of adrenal insufficiency in children and young infancy is often challenging, usually based on clinical suspicion and endocrine laboratory findings. Pediatric endocrinologists sometimes encounter therapeutic difficulty in finding the balance between undertreatment and overtreatment, determining how to optimize the dose over the patient's lifetime, and maximizing mimicry of normal cortisol secretion with glucocorticoid replacement therapy.
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Registered trials
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