21-hydroxylase deficiency primary prevention

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]

Overview

Pre-natal diagnosis of 21-hydroxylase deficiency is established to prevent complications of the disease in future life and treated with pre-natal dexamethasone.

Primary Prevention

Pre-natal diagnosis of 21-hydroxylase deficiency in patients with positive family history is established to prevent complications in future. A positive diagnosis is treated with prenatal dexamethasone.
The tests available for making a pre-natal diagnosis of 21-hydroxylase deficiency include:
- Amniotic fluid testing
- Oligonucleotide hybridization of deoxyribonucleic acid (DNA) obtained from chorionic villus sampling utilizes fetal DNA extracted from maternal blood through non-invasive methods.^[1]

References

↑ Kazmi D, Bailey J, Yau M, Abu-Amer W, Kumar A, Low M, Yuen T (2017). “New developments in prenatal diagnosis of congenital adrenal hyperplasia”. J. Steroid Biochem. Mol. Biol. 165 (Pt A): 121–123. doi:10.1016/j.jsbmb.2016.06.016. PMID 27378492.

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[pmid27378492-1] Kazmi D, Bailey J, Yau M, Abu-Amer W, Kumar A, Low M, Yuen T (2017). “New developments in prenatal diagnosis of congenital adrenal hyperplasia”. J. Steroid Biochem. Mol. Biol. 165 (Pt A): 121–123. doi:10.1016/j.jsbmb.2016.06.016. PMID 27378492.

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