21-hydroxylase deficiency other diagnostic studies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] 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 11-deoxycortisol and oligonucleotide hybridization of deoxyribonucleic acid (DNA) obtained from chorionic villus biopsies; and utilize fetal DNA extracted from maternal blood through noninvasive 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:

  • Amniotic fluid testing and oligonucleotide hybridization of deoxyribonucleic acid (DNA) obtained from chorionic villus biopsies.
  • Utilize fetal DNA extracted from maternal blood through noninvasive methods.[1]

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