21-hydroxylase deficiency other diagnostic studies

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

Overview

Prenatal diagnosis for 21-hydroxylase deficiency may be used in diagnosis of congenital adrenal hyperplasia. Different tests which may be used are amniotic fluid testing and oligonucleotide hybridization of deoxyribonucleic acid (DNA) obtained from chorionic villus samples, and utilization of fetal DNA extracted from maternal blood through non-invasive methods.

Other Diagnostic Studies

Prenatal diagnosis for 21-hydroxylase deficiency may be used in diagnosis of congenital adrenal hyperplasia. Different tests which may be used are:

References

  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. PMID 27378492. doi:10.1016/j.jsbmb.2016.06.016. 

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