A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation
Aromatase deficiency is a rare, autosomal recessive disorder in which affected patients fail to synthesize normal estrogen. Herein, we report a 46, XX patient born with virilised external genitalia. A novel homozygous mutation in the CYP19A1 gene, causing aromatase deficiency, was detected. A 30-day...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayincilik
2019-06-01
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| Series: | JCRPE |
| Subjects: | |
| Online Access: |
http://www.jcrpe.org/archives/archive-detail/article-preview/a-novel-homozygous-icyp19a1-i-gene-mutation-aromat/19456
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