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...
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| Main Authors: | , |
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| Format: | Book |
| Published: |
Galenos Yayincilik,
2019-06-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |