Abstract
Congenital adrenal hyperplasia syndromes result from deficiencies of enzymes involved in corticosteroid biosynthesis. Most commonly, they are due to mutations in 21-hydroxylase. This chapter describes the clinical diagnosis and management of congenital adrenal hyperplasias throughout life, including in the fetus, child and adult. These clinical recommendations are explained in the context of the molecular and biochemical characteristics of the diseases.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 17-41 |
| Number of pages | 25 |
| Journal | Best Practice and Research: Clinical Endocrinology and Metabolism |
| Volume | 15 |
| Issue number | 1 |
| DOIs | |
| State | Published - 2001 |
Keywords
- Adrenal hyperplasia
- Aldosterone
- Androgens
- Congenital
- Cytochrome P-450
- HLA antigens
- Hydrocortisone
- Inborn errors
- Metabolism
- Sex differentiation disorders
- Steroid 21-monooxygenase
- Virilism
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Endocrinology