Endocrinol Metab.  2022 Aug;37(4):587-598. 10.3803/EnM.2022.1528.

Long-Term Outcomes of Congenital Adrenal Hyperplasia

Affiliations
  • 1Department of Women’s and Children’s Health, Karolinska Institute, Stockholm, Sweden
  • 2Pediatric Endocrinology Unit, Karolinska University Hospital, Stockholm, Sweden
  • 3Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden
  • 4Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden

Abstract

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.

Keyword

Cardiovascular diseases; Bone fracture; Mental disorders; Neoplasms; Mortality; Fertility

Figure

  • Fig. 1. A 18×15×9.5 cm large left-sided and a 2.5×2 cm large right-sided myelolipoma was found in a man in his 40s with simple virilizing congenital adrenal hyperplasia. The hormonal control had been poor for years.


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