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Review
. 2021 Jun 22;5(9):bvab117.
doi: 10.1210/jendso/bvab117. eCollection 2021 Sep 1.

Genetic Diagnosis of Primary Adrenal Insufficiency in Children: A Paradigm Change

Madson Q Almeida  1   2
Affiliations
Review

Genetic Diagnosis of Primary Adrenal Insufficiency in Children: A Paradigm Change

Madson Q Almeida. J Endocr Soc. .
No abstract available

Keywords: Addison disease; NGS; adrenal; adrenal insufficiency; genetics.

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References

    1. Bornstein SR, Allolio B, Arlt W, et al. . Diagnosis and treatment of primary adrenal insufficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2016;101(2):364-389. - PMC - PubMed
    1. Buonocore F, Achermann JC. Primary adrenal insufficiency: new genetic causes and their long-term consequences. Clin Endocrinol (Oxf). 2020;92(1):11-20. - PMC - PubMed
    1. Lin L, Gu WX, Ozisik G, et al. . Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years’ experience. J Clin Endocrinol Metab. 2006;91(8):3048-3054. - PMC - PubMed
    1. Flück CE. Mechanisms in endocrinology: update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction. Eur J Endocrinol. 2017;177(3):R99-R111. - PubMed
    1. Miller WL. Disorders in the initial steps of steroid hormone synthesis. J Steroid Biochem Mol Biol. 2017;165(Pt A):18-37. - PubMed

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