A Novel Homozygous CYP19A1 Gene Mutation Causing Aromatase Deficiency
A Novel Homozygous CYP19A1 Gene Mutation Causing Aromatase Deficiency
About this item
Full title
Author / Creator
Publisher
United States: Cureus Inc
Journal title
Language
English
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Publication information
Publisher
United States: Cureus Inc
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Scope and Contents
Contents
Aromatase deficiency is a rare autosomal recessive disorder and its exact prevalence is not known. Aromatase enzyme catalyzes the conversion of androgens to estrogens in gonadal and extra-gonadal tissues. Deficiency of aromatase enzyme can lead to ambiguous genitalia in a female child and maternal virilization during pregnancy due to raised androge...
Alternative Titles
Full title
A Novel Homozygous CYP19A1 Gene Mutation Causing Aromatase Deficiency
Authors, Artists and Contributors
Author / Creator
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8916689
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8916689
Other Identifiers
ISSN
2168-8184
E-ISSN
2168-8184
DOI
10.7759/cureus.22059
