Clinical outcomes in 21-hydroxylase deficiency.
Journal
Current opinion in endocrinology, diabetes, and obesity
ISSN: 1752-2978
Titre abrégé: Curr Opin Endocrinol Diabetes Obes
Pays: England
ID NLM: 101308636
Informations de publication
Date de publication:
01 06 2021
01 06 2021
Historique:
pubmed:
21
3
2021
medline:
28
9
2021
entrez:
20
3
2021
Statut:
ppublish
Résumé
The introduction of synthetic glucocorticoids 70 years ago made survival possible in classic 21-hydroxylase deficiency (21OHD). The currently used glucocorticoid therapy may lead to unphysiological dosing with negative consequencies on health in addition to the problems that may arise due to androgen over-exposure. Fertility in females with 21OHD seemed to be impaired, especially in the salt-wasting (SW) phenotype but when pregnancies did occur there was a higher risk for gestational diabetes and cesearean section. Increased fat mass, body mass index, insulin resistance and frequency of autoimmune disorders as well as impaired echocardiographic parameters and lower bone mineral density were found in 21OHD compared to controls. Negative effects on cognitive functions have been identified. Adrenal tumors, especially myelolipomas, were prevalent. Increased knowledge on steroid metabolism in 21OHD and urine steroid profiling may improve assessment of treatment efficacy. Nevanimibe, abiraterone acetate and anastrozole may have a place in the future management of 21OHD. Long-acting glucocorticoids may be a less favorable, especially dexamethasone. The various clinical outcomes need regular monitoring. Negative consequencies are to large extent the result of the unphysiological glucocorticoid replacement. Modern management with improved follow-up and future addition of new drugs may improve outcomes.
Identifiants
pubmed: 33741777
doi: 10.1097/MED.0000000000000625
pii: 01266029-202106000-00010
doi:
Substances chimiques
Glucocorticoids
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
318-324Informations de copyright
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
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