Aromatase deficiency due to a novel mutation in CYP19A1 gene

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dc.authorid0000-0002-9809-0977en_US
dc.authorid0000-0002-5299-9480en_US
dc.authorid0000-0003-2438-0602en_US
dc.authorid0000-0003-0985-4259en_US
dc.contributor.authorÜnal, Edip
dc.contributor.authorYıldırım, Ruken
dc.contributor.authorTaş, Funda Feryal
dc.contributor.authorDemir, Vasfiye
dc.contributor.authorOnay, Hüseyin
dc.contributor.authorHaspolat, Yusuf Kenan
dc.date.accessioned2021-12-01T06:26:23Z
dc.date.available2021-12-01T06:26:23Z
dc.date.issued2018en_US
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_US
dc.description.abstractAromatase deficiency is a rare autosomal recessive genetic disorder with an unknown incidence. Aromatase converts androgens into estrogen in the gonadal and extra-gonadal tissues. Aromatase deficiency causes ambiguous genitalia in the female fetus and maternal virilization (hirsutism, acne, cliteromegaly, deep voice) during pregnancy due to increased concentration of androgens. A 19 months old girl patient was assessed due to presence of ambiguous genitalia. There were findings of maternal virilization during pregnancy. The karyotype was 46,XX. Congenital adrenal hyperplasia was not considered since adrenocorticotropic hormone, cortisol, and 17-hydroxyprogesterone levels were within normal ranges. At age two months, follicle-stimulating hormone and total testosterone levels were elevated and estradiol level was low. Based on these findings, aromatase deficiency was suspected. A novel homozygous mutation IVS7-2A>G (c.744-2A>G) was identified in the CYP19A1 gene. Pelvic ultrasound showed hypoplasic ovaries rather than large and cystic ovaries. We identified a novel mutation in the CYP19A1 gene in a patient who presented with ambiguous genitalia and maternal virilization during pregnancy. Presence of large and cystic ovaries is not essential in aromatase deficiency.en_US
dc.identifier.citationÜnal, E., Yıldırım, R., Taş, F. F., Demir, V., Onay, H., Haspolat, Y. K. ve diğerleri. (2018). Aromatase deficiency due to a novel mutation in CYP19A1 gene. Journal of Clinical Research in Pediatric Endocrinology, 10(4), 377-381.en_US
dc.identifier.doi10.4274/jcrpe.0011
dc.identifier.endpage381en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue4en_US
dc.identifier.pmid29553041
dc.identifier.scopus2-s2.0-85057551599
dc.identifier.scopusqualityQ2
dc.identifier.startpage377en_US
dc.identifier.trdizinid307994
dc.identifier.urihttps://pubmed.ncbi.nlm.nih.gov/29553041/
dc.identifier.urihttps://hdl.handle.net/11468/8343
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/307994
dc.identifier.volume10en_US
dc.identifier.wosWOS:000451667000012
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.indekslendigikaynakTR-Dizin
dc.institutionauthorÜnal, Edip
dc.institutionauthorTaş, Funda Feryal
dc.institutionauthorHaspolat, Yusuf Kenan
dc.language.isoenen_US
dc.publisherGalenos Yayınevien_US
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAromatase deficiencyen_US
dc.subjectCYP19A1 geneen_US
dc.subjectMaternal virilizationen_US
dc.subjectAmbiguous genitaliaen_US
dc.titleAromatase deficiency due to a novel mutation in CYP19A1 geneen_US
dc.titleAromatase deficiency due to a novel mutation in CYP19A1 gene
dc.typeArticleen_US

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