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

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

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...

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Bibliographic Details
Main Authors: Samim Özen, Tahir Atik, Özlem Korkmaz, Hüseyin Onay, Damla Gökşen, Ferda Özkınay, Özgür Çoğulu, Şükran Darcan
Format: Article
Language:English
Published: Galenos Yayincilik 2020-03-01
Series:JCRPE
Subjects:
46
xx disorder of sex development
aromatase deficiency
cyp19a1 gene
Online Access: http://www.jcrpe.org/archives/archive-detail/article-preview/aromatase-deficiency-in-two-siblings-with-46xx-kar/26340

Internet

http://www.jcrpe.org/archives/archive-detail/article-preview/aromatase-deficiency-in-two-siblings-with-46xx-kar/26340

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