Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/37013
Full metadata record
DC FieldValueLanguage
dc.contributor.authorAcar, S.-
dc.contributor.authorErbaş, İ.M.-
dc.contributor.authorPaketçi, A.-
dc.contributor.authorOnay, H.-
dc.contributor.authorÇankaya, T.-
dc.contributor.authorGürsoy, S.-
dc.contributor.authorÖzhan, Bayram-
dc.contributor.authorAbacı, Ayhan-
dc.contributor.authorÖzer, Erdener-
dc.contributor.authorOlguner, Mustafa-
dc.contributor.authorBöber, Ece-
dc.contributor.authorDemir, Korcan-
dc.date.accessioned2021-02-02T09:23:36Z-
dc.date.available2021-02-02T09:23:36Z-
dc.date.issued2020-
dc.identifier.issn0041-4301-
dc.identifier.urihttps://hdl.handle.net/11499/37013-
dc.identifier.urihttps://doi.org/10.24953/turkjped.2020.05.015-
dc.description.abstractBackground. Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease. It is characterized by impaired estrogen production, increased gonadotropins, and ovarian cysts. Case. Herein, we report a clinical phenotype of the virilized female due to a novel compound heterozygous variant in CYP19A1 [IVS10 + 1 G> A; c.344 G> A (p.R115Q)], with normal gonadotropin levels at the time of admission and histologically normal ovarian tissues. Conclusion. Aromatase deficiency should also be considered even if the initial follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels are normal, and ovarian cysts are lacking. © 2020, Turkish National Pediatric Society. All rights reserved.en_US
dc.language.isoenen_US
dc.publisherTurkish National Pediatric Societyen_US
dc.relation.ispartofTurkish Journal of Pediatricsen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAmbiguous genitaliaen_US
dc.subjectClitoromegalyen_US
dc.subjectDisorders of sex developmenten_US
dc.subjectHirsutismen_US
dc.subjectP450 oxidoreductase deficiencyen_US
dc.subjectcase reporten_US
dc.titleA novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissueen_US
dc.typeArticleen_US
dc.identifier.volume62en_US
dc.identifier.issue5en_US
dc.identifier.startpage826-
dc.identifier.startpage826en_US
dc.identifier.endpage830en_US
dc.identifier.doi10.24953/turkjped.2020.05.015-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.pmid33108086en_US
dc.identifier.scopus2-s2.0-85094117302en_US
dc.identifier.trdizinid422536en_US
dc.identifier.wosWOS:000582494600014en_US
dc.identifier.scopusqualityQ3-
dc.ownerPamukkale University-
item.grantfulltextopen-
item.openairetypeArticle-
item.cerifentitytypePublications-
item.fulltextWith Fulltext-
item.languageiso639-1en-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
crisitem.author.dept14.02. Internal Medicine-
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
TR Dizin İndeksli Yayınlar Koleksiyonu / TR Dizin Indexed Publications Collection
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
Files in This Item:
File SizeFormat 
pdf_TJP_2215.pdf798.96 kBAdobe PDFView/Open
Show simple item record



CORE Recommender

SCOPUSTM   
Citations

3
checked on Aug 9, 2024

WEB OF SCIENCETM
Citations

2
checked on Jul 31, 2024

Page view(s)

90
checked on Aug 9, 2024

Download(s)

28
checked on Aug 9, 2024

Google ScholarTM

Check




Altmetric


Items in GCRIS Repository are protected by copyright, with all rights reserved, unless otherwise indicated.