A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation

• Hlavní autoři: Fatma Dursun (Autor), Serdar Ceylaner (Autor)
• Médium: Kniha
• Vydáno: Galenos Yayincilik, 2019-06-01T00:00:00Z.
• Témata: article
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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...