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

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dc.contributor.authorÖzen, Samim
dc.contributor.authorAtik, Tahir
dc.contributor.authorDilmen, Özlem Korkmaz
dc.contributor.authorOnay, Hüseyin
dc.contributor.authorGökşen, Damla
dc.contributor.authorÖzkınay, F. Ferda
dc.contributor.authorDarcan, Şükran
dc.date.accessioned2021-05-03T21:13:50Z
dc.date.available2021-05-03T21:13:50Z
dc.date.issued2020
dc.departmentEge Üniversitesien_US
dc.description.abstractAromatase 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 findings in aromatase deficiency vary depending on the degree of deficiency. The effect of increased androgens, including acne, cliteromegaly and hirsutism, can be observed in mothers with placental aromatase deficiency. A decrease in maternal virilisation symptoms is observable in the postpartum period. It is rarely reported that there is no virilization in pregnancy. In this study, two 46,XX sibling having the p.R115X (c.343 C>T) novel pathogenic variant in the CYP19A1 gene and raised as different genders, with no maternal virilisation during pregnancy, are presented. In conclusion, 46,XX virilised females should be examined in terms of aromatase deficiency once congenital adrenal hyperplasia has been excluded, even if there is no history of maternal virilisation during pregnancy.en_US
dc.identifier.doi10.4274/jcrpe.galenos.2019.2018.0198
dc.identifier.endpage112en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue1en_US
dc.identifier.pmid30968679en_US
dc.identifier.scopus2-s2.0-85082145002en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage109en_US
dc.identifier.trdizinid363361en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2019.2018.0198
dc.identifier.urihttps://hdl.handle.net/11454/71665
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/363361
dc.identifier.volume12en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject[No Keywords]en_US
dc.titleAromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Geneen_US
dc.typeArticleen_US

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