Article
Congenital adrenal hyperplasia.
Lancet (London, England) - 11 Nov 2017
El-Maouche Diala, Arlt Wiebke, Merke Deborah P
Abstract excerpt
Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol biosynthesis. Depending on the type and severity of steroid block, patients can have various alterations in glucocorticoid, mineralocorticoid, and sex steroid production that require hormone replacement therapy. Presentations vary from...
Topics
- Adrenal Hyperplasia, Congenital
- Combined Modality Therapy
- Dose-Response Relationship, Drug
- Female
- Follow-Up Studies
- Genetic Predisposition to Disease
- Glucocorticoids
- Hormone Replacement Therapy
- Humans
- Infant, Newborn
- Male
- Neonatal Screening
- Rare Diseases
- Risk Assessment
- Severity of Illness Index
- Treatment Outcome