Long-Term Outcomes of Congenital Adrenal Hyperplasia

A plethora of negative long-term outcomes have been associated with congenital adrenal hyperplasia (CAH). The causes are multiple and involve supra-physiological gluco- and mineralocorticoid replacement, excess adrenal androgens both intrauterine and postnatal, elevated steroid precursor and adrenocorticotropic hormone levels, living with a congenital condition as well as the proximity of the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene to other genes. This review aims to discuss the different long-term outcomes of CAH.

• Publication year

  2022

• Venue

  Endocrinology and Metabolism

• Publication date

  2022-07-08

• Fields of study

  Medicine

• Identifiers
  DOI 10.3803/EnM.2022.1528PMID 35799332PMCID 9449109
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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• Adrenal myelolipomas.

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