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Diagnosis and management of congenital adrenal hyperplasia.
- Source :
-
Annual review of medicine [Annu Rev Med] 1998; Vol. 49, pp. 311-28. - Publication Year :
- 1998
-
Abstract
- Congenital adrenal hyperplasia is a family of inborn errors of steroidogenesis, each characterized by a specific enzyme deficiency that impairs cortisol production by the adrenal cortex, and can lead to sexual ambiguity in both genetic males and females. The enzymes most often affected are 21-hydroxylase, 11 beta-hydroxylase, and 3 beta-hydroxysteroid dehydrogenase, and less often, 17 alpha-hydroxylase/17, 20-lyase and cholesterol desmolase. Decreased production of cortisol results in increased pituitary secretion of adrenocorticotropic hormone. The elevated adrenocorticotropic hormone stimulates both the accumulation of precursor steroids in the impeded pathways and excessive steroid synthesis in other adrenal biosynthetic pathways unaffected by the enzyme deficiency. Correct identification of the enzyme affected is achieved by the observation of clinical syndromes reflecting distinct hormonal patterns, and it is measured quantitatively as low levels of cortisol and other adrenal steroids, as well as increased levels of steroids proximal to the blocked step. Many of the corresponding genes for the described enzymes have been isolated and characterized, and specific mutations causing many cases of congenital adrenal hyperplasia have been identified. These advances have important implications for early prenatal diagnosis and prenatal treatment.
- Subjects :
- 3-Hydroxysteroid Dehydrogenases deficiency
3-Hydroxysteroid Dehydrogenases genetics
Adrenal Cortex enzymology
Adrenal Cortex metabolism
Adrenal Cortex Hormones analysis
Adrenal Cortex Hormones biosynthesis
Adrenal Cortex Hormones genetics
Adrenal Cortex Hormones metabolism
Adrenal Hyperplasia, Congenital drug therapy
Adrenal Hyperplasia, Congenital genetics
Adrenocorticotropic Hormone genetics
Adrenocorticotropic Hormone metabolism
Cholesterol Side-Chain Cleavage Enzyme deficiency
Cholesterol Side-Chain Cleavage Enzyme genetics
Disorders of Sex Development etiology
Female
Fetal Diseases diagnosis
Fetal Diseases drug therapy
Humans
Hydrocortisone analysis
Hydrocortisone biosynthesis
Hydrocortisone genetics
Male
Metabolism, Inborn Errors diagnosis
Metabolism, Inborn Errors drug therapy
Mutation genetics
Pituitary Gland metabolism
Pregnancy
Prenatal Diagnosis
Steroid 11-beta-Hydroxylase genetics
Steroid 17-alpha-Hydroxylase genetics
Steroid 21-Hydroxylase genetics
Adrenal Hyperplasia, Congenital diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 0066-4219
- Volume :
- 49
- Database :
- MEDLINE
- Journal :
- Annual review of medicine
- Publication Type :
- Academic Journal
- Accession number :
- 9509266
- Full Text :
- https://doi.org/10.1146/annurev.med.49.1.311