How Can Molecular Biology Contribute to the Management of Congenital Adrenal Hyperplasia?
| Autor: | Svetlana Lajic, E M Ritzén, Anna Wedell |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
medicine.medical_specialty
Genotype medicine.drug_class Endocrinology Diabetes and Metabolism medicine.medical_treatment Disease Biology Endocrinology Pregnancy Prenatal Diagnosis Internal medicine medicine Humans Congenital adrenal hyperplasia Glucocorticoids Genotyping Bone growth Aromatase inhibitor Adrenal Hyperplasia Congenital Genetic Carrier Screening Adrenalectomy Heterozygote advantage medicine.disease Androgen secretion Fetal Diseases Mutation Pediatrics Perinatology and Child Health Female Steroid 21-Hydroxylase |
| Zdroj: | Karolinska Institutet |
| ISSN: | 1663-2826 1663-2818 |
| Popis: | The most common form of congenital adrenal hyperplasia is due to a deficiency of 21-hydroxylase (21OHD) activity and is caused by a mutation in the CYP21 gene. By genotyping patients, new and important information can be gained, including presence or absence of 21OHD in borderline cases, determining the severity of disease and identifying heterozygote carriers. Current management of patients with 21OHD involves administering sufficient glucocorticoids to suppress excess adrenal androgen secretion, but not so much that bone growth and mineralization are impaired. New management strategies have been proposed and include administering only substitution doses of corticosteroids and counteracting side-effects by administering an anti-androgen and aromatase inhibitor. Adrenalectomy has also been proposed. Further investigation into these approaches is necessary. |
| Databáze: | OpenAIRE |
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