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https://hdl.handle.net/11499/37013
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DC Field | Value | Language |
---|---|---|
dc.contributor.author | Acar, S. | - |
dc.contributor.author | Erbaş, İ.M. | - |
dc.contributor.author | Paketçi, A. | - |
dc.contributor.author | Onay, H. | - |
dc.contributor.author | Çankaya, T. | - |
dc.contributor.author | Gürsoy, S. | - |
dc.contributor.author | Özhan, Bayram | - |
dc.contributor.author | Abacı, Ayhan | - |
dc.contributor.author | Özer, Erdener | - |
dc.contributor.author | Olguner, Mustafa | - |
dc.contributor.author | Böber, Ece | - |
dc.contributor.author | Demir, Korcan | - |
dc.date.accessioned | 2021-02-02T09:23:36Z | - |
dc.date.available | 2021-02-02T09:23:36Z | - |
dc.date.issued | 2020 | - |
dc.identifier.issn | 0041-4301 | - |
dc.identifier.uri | https://hdl.handle.net/11499/37013 | - |
dc.identifier.uri | https://doi.org/10.24953/turkjped.2020.05.015 | - |
dc.description.abstract | Background. 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.iso | en | en_US |
dc.publisher | Turkish National Pediatric Society | en_US |
dc.relation.ispartof | Turkish Journal of Pediatrics | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | Ambiguous genitalia | en_US |
dc.subject | Clitoromegaly | en_US |
dc.subject | Disorders of sex development | en_US |
dc.subject | Hirsutism | en_US |
dc.subject | P450 oxidoreductase deficiency | en_US |
dc.subject | case report | en_US |
dc.title | A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissue | en_US |
dc.type | Article | en_US |
dc.identifier.volume | 62 | en_US |
dc.identifier.issue | 5 | en_US |
dc.identifier.startpage | 826 | - |
dc.identifier.startpage | 826 | en_US |
dc.identifier.endpage | 830 | en_US |
dc.identifier.doi | 10.24953/turkjped.2020.05.015 | - |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.identifier.pmid | 33108086 | en_US |
dc.identifier.scopus | 2-s2.0-85094117302 | en_US |
dc.identifier.trdizinid | 422536 | en_US |
dc.identifier.wos | WOS:000582494600014 | en_US |
dc.identifier.scopusquality | Q3 | - |
dc.owner | Pamukkale University | - |
item.grantfulltext | open | - |
item.openairetype | Article | - |
item.cerifentitytype | Publications | - |
item.fulltext | With Fulltext | - |
item.languageiso639-1 | en | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
crisitem.author.dept | 14.02. 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 |
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pdf_TJP_2215.pdf | 798.96 kB | Adobe PDF | View/Open |
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