Long-term health consequences of congenital adrenal hyperplasia.

Autor: Pofi R; Oxford Centre for Diabetes, Endocrinology and Metabolism, NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK., Ji X; Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.; Endocrinology and Metabolism Department, The Second Affiliated Hospital, Dalian Medical University, Dalian, China., Krone NP; Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK., Tomlinson JW; Oxford Centre for Diabetes, Endocrinology and Metabolism, NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
Jazyk: angličtina
Zdroj: Clinical endocrinology [Clin Endocrinol (Oxf)] 2024 Oct; Vol. 101 (4), pp. 318-331. Date of Electronic Publication: 2023 Sep 07.
DOI: 10.1111/cen.14967
Abstrakt: Congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency accounts for 95% of all CAH cases and is one of the most common inborn metabolic conditions. The introduction of life-saving glucocorticoid replacement therapy 70 years ago has changed the perception of CAH from a paediatric disorder into a lifelong, chronic condition affecting patients of all age groups. Alongside health problems that can develop during the time of paediatric care, there is an emerging body of evidence suggesting an increased risk of developing co-morbidities during adult life in patients with CAH. The mechanisms that drive the negative long-term outcomes associated with CAH are complex and involve supraphysiological replacement therapies (glucocorticoids and mineralocorticoids), excess adrenal androgens both in the intrauterine and postnatal life, elevated steroid precursors and adrenocorticotropic hormone levels. Alongside a review of mortality outcome, we discuss issues that need to be addressed when caring for the CAH patient including female and male fertility, cardio-metabolic morbidity, bone health and other important long-term outcomes of CAH.
(© 2023 The Authors. Clinical Endocrinology published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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