17 alpha-hydroxylase deficiency other diagnostic studies

Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]

Overview

Immunohistochemical staining of the adrenal gland may be used for the diagnosis of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency and it demonstrates hyperplasia, poorly defined zonation, and intermingling of the chromaffin and cortical cells.

Other Diagnostic Studies

• Immunohistochemical staining of the adrenal gland may be used in patients with 17 alpha-hydroxylase deficiency and it demonstrates:

• Hyperplasia

• Poorly defined zonation

• Intermingling of the chromaffin and cortical cells

• Amniotic fluid 11-deoxycortisol and oligonucleotide hybridization of deoxyribonucleic acid (DNA) obtained from chorionic villus biopsies.
• DNA analysis