17 alpha-hydroxylase deficiency prevention

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

Overview

Prenatal diagnosis of 17 alpha-hydroxylase deficiency is advised in order to prevent complications of the disease further in life. Prenatal administration of dexamethasone, which is the drug of choice helps prevent complications.

Primary Prevention

Prenatal diagnosis of 17 alpha-hydroxylase deficiency is advised in order to prevent complications of the disease further in life.
Prenatal administration of dexamethasone, which is the drug of choice helps prevent complications.
Testing modalities include:
- Amniotic fluid testing.
- Oligonucleotide hybridization of deoxyribonucleic acid (DNA) which is obtained from chorionic villus biopsies. In this method, fetal DNA is extracted from maternal blood through noninvasive 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.

[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.

[1]