Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene

• Main Authors: Samim Özen (Author), Tahir Atik (Author), Özlem Korkmaz (Author), Hüseyin Onay (Author), Damla Gökşen (Author), Ferda Özkınay (Author), Özgür Çoğulu (Author), Şükran Darcan (Author)
• Format: Book
• Published: Galenos Yayincilik, 2020-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Aromatase deficiency rarely causes a 46,XX sexual differentiation disorder. The CYP19A1 gene encodes the aromatase enzyme which catalyses the conversion of androgens to oestrogens. In cases with 46,XX karyotype, mutations in the CYP19A1 gene can lead to disorders of sex development. Clinical finding...