ReviewReviews in endocrine & metabolic disorders2023
Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia.
Review in Reviews in endocrine & metabolic disorders, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 11 citations in OpenAlex.
- Genetically Confirmed Osteogenesis Imperfecta (COL1A1) With Unexplained Ambiguous Genitalia in a 46,XY Child: An Index Case Report.Clinical case reports · 2026Article
- Congenital aldosterone deficiency and its resistance.Endocrine journal · 2026Review
- The pivotal role of etiology in managing Non-CAH primary adrenal insufficiency in pediatric and adolescent populations: A Single-Center study.Endocrine · 2026Article
- A case report of neonatal renal pseudohypoaldosteronism type I caused by aFrontiers in pediatrics · 2026Article
- Genetic Insights and Lifelong Management of Aldosterone Synthase Deficiency: A Case of Hyperreninemic Hypoaldosteronism.Clinical case reports · 2026Article
- Article
- Adrenocortical stem cells in health and disease.Nature reviews. Endocrinology · 2025Review
- Insights Into Pediatric Non-congenital Adrenal Hyperplasia: A Review Based on 5 Different Rare Cases with Primary Adrenal Insufficiency.Turkish archives of pediatrics · 2025Article
- Aldosterone synthase deficiency due to homozygous CYP11B2 pathogenic variant with coexisting celiac disease: A case study and literature review.Pediatric endocrinology, diabetes, and metabolism · 2025Review
- [Consensus recommendations on the diagnosis and treatment of hyponatremia from the Austrian Society for Nephrology 2024].Wiener klinische Wochenschrift · 2024Article
- Editorial: Rare forms of pediatric adrenal disorders: beyond congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Frontiers in endocrinology · 2024Article
- Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.Frontiers in endocrinology · 2023Review
- Inherited, Non-CAH Primary Adrenal Insufficiency in Children: A Genetic and Clinical Profile from a Tertiary Care Centre.Indian journal of endocrinology and metabolismArticle
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Adrenal insufficiency (AI) is a severe endocrine disorder characterized by insufficient glucocorticoid (GC) and/or mineralocorticoid (MC) secretion by the adrenal glands, due to impaired adrenal function (primary adrenal insufficiency, PAI) or to insufficient adrenal stimulation by pituitary ACTH (secondary adrenal insufficiency, SAI) or tertiary adrenal insufficiency due to hypothalamic dysfunction. In this review, we describe rare genetic causes of PAI with isolated GC or combined GC and MC deficiencies and we also describe rare syndromes of isolated MC deficiency. In children, the most frequent cause of PAI is congenital adrenal hyperplasia (CAH), a group of adrenal disorders related to steroidogenic enzyme deficiencies, which will not be included in this review. Less frequently, several rare diseases can cause PAI, either affecting exclusively the adrenal glands or with systemic involvement. The diagnosis of these diseases is often challenging, due to the heterogeneity of their clinical presentation and to their rarity. Therefore, the current review aims to provide an overview on these rare genetic forms of paediatric PAI, offering a review of genetic and clinical features and a summary of diagnostic and therapeutic approaches, promoting awareness among practitioners, and favoring early diagnosis and optimal clinical management in suspect cases.
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