ReviewClinical endocrinology2020
Primary adrenal insufficiency: New genetic causes and their long-term consequences.
Review in Clinical endocrinology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 87 citations in OpenAlex.
- Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management.Journal of endocrinological investigation · 2026Review
- A De Novo Mutation (c.2423A>G) inHuman mutation · 2026Article
- Potential endogenous lipid ligands for the nuclear receptor transcription factor Steroidogenic Factor-1.Advances in biological regulation · 2026Review
- Article
- Adrenocortical stem cells in health and disease.Nature reviews. Endocrinology · 2025Review
- Adrenal Insufficiency Associated Cardiomyopathy, From Molecule to Clinic: A Comprehensive Review.Health science reports · 2025Article
- Free Cortisol and Free 21-Deoxycortisol in the Clinical Evaluation of Congenital Adrenal Hyperplasia.The Journal of clinical endocrinology and metabolism · 2025Article
- Early genetic sequencing in neonates with hyperkalemia: a retrospective cross-sectional study.Translational pediatrics · 2025Article
- Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.Molecular genetics & genomic medicine · 2025Article
- Primary Adrenal Insufficiency, Complete Sex Reversal, and Unique Clinical Phenotype in a Patient with Severe CYP11A1 (P450scc) Deficiency-Case Report and Literature Overview.Children (Basel, Switzerland) · 2024Article
- Non-classical animal models for studying adrenal diseases: advantages, limitations, and implications for research.Laboratory animal research · 2024Review
- Fertility and pregnancy in adrenal insufficiency.Endocrine connections · 2024Review
- Neglected Adrenal Hypoplasia Congenita in Two Siblings with Novel Genetic Mutations in NR0B1 Gene and Notable Clinical Course: A Case Report.Endocrine, metabolic & immune disorders drug targets · 2024Article
- Approach to the Patient: Diagnosis of Primary Adrenal Insufficiency in Adults.The Journal of clinical endocrinology and metabolism · 2023Article
- Epidemiology and Causes of Primary Adrenal Insufficiency in Children: A Population-Based Study.The Journal of clinical endocrinology and metabolism · 2023Article
- EWS/FLI1 Characterization, Activation, Repression, Target Genes and Therapeutic Opportunities in Ewing Sarcoma.International journal of molecular sciences · 2023Review
- An integrated single-cell analysis of human adrenal cortex development.JCI insight · 2023Article
- Testicular impairment in Primary Adrenal Insufficiency caused by Nicotinamide Nucleotide Transhydrogenase (NNT) deficiency - a case report: implication of oxidative stress and importance of fertility preservation.Basic and clinical andrology · 2023Article
- Models of Congenital Adrenal Hyperplasia for Gene Therapies Testing.International journal of molecular sciences · 2023Review
- Development and function of the fetal adrenal.Reviews in endocrine & metabolic disorders · 2023Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires urgent diagnosis and treatment. Whilst the most common causes are congenital adrenal hyperplasia (CAH) in childhood and autoimmune adrenal insufficiency in adolescence and adulthood, more than 30 other physical and genetics cause of PAI have been reported. Reaching a specific diagnosis can have implications for management and for monitoring associated features, as well as for counselling families about recurrence risk in siblings and relatives. Here, we describe some recent insights into the genetics of adrenal insufficiency and associated molecular mechanisms. We discuss (a) the role of the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal and reproductive dysfunction; (b) multisystem growth restriction syndromes due to gain-of-function in the growth repressors CDKN1C (IMAGE syndrome) and SAMD9 (MIRAGE syndrome), or loss of POLE1; (c) nonclassic forms of STAR and P450scc/CYP11A1 insufficiency that present with a delayed-onset adrenal phenotype and represent a surprisingly prevalent cause of undiagnosed PAI; and (d) a new sphingolipidosis causing PAI due to defects in sphingosine-1-phosphate lyase-1 (SGPL1). Reaching a specific diagnosis can have life-long implications for management. In some situations, milder or nonclassic forms of these conditions can first present in adulthood and may have been labelled, "Addison's disease."
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