Yıl: 2021 Cilt: 18 Sayı: 1 Sayfa Aralığı: 65 - 67 Metin Dili: İngilizce DOI: 10.4274/tjod.galenos.2021.53050

Gynecologic manifestations in Emberger syndrome

Öz:
Immune system vulnerability seems to play a significant role in the development and malignant transformation of pre-malignant squamous cell lesions.Emberger syndrome is a condition that affects the immune system, which is caused by GATA2 gene mutations. Our objective was to present the gynecologicexpressions of this rare syndrome in our case. Here, we discussed a relatively young patient with findings related to Emberger syndrome such as recurrentinfections, myelodysplastic syndrome, lower extremity edema, and multifocal, multicentric premalignant/malignant genital lesions. Sequencing of theGATA2 gene was accomplished for suspected Emberger syndrome and a point mutation in intron5, c1143+8C >T was detected. Gynecologists may play animportant role in the early detection of Emberger syndrome and guiding multidisciplinary treatment options as the initial signs related to this rare entitycan appear on the genitalia.
Anahtar Kelime:

Konular:
Fen > Tıp > Kadın Hastalıkları ve Doğum

Emberger sendromunda jinekolojik belirtiler

Öz:
İmmün yetmezlik, pre-malign ve malign skuamöz hücre lezyonlarının gelişiminde ve premalign lezyonların malignitelere dönüşümde önemli bir rol oynamaktadır. Emberger sendromu, GATA2 gen mutasyonlarının neden olduğu, immün sistemi etkileyen böyle bir durumdur. Bu nadir sendromun jinekolojik belirtileri olan bir olgumuzu sunduk. Burada, yıllar içinde gelişen tekrarlayan enfeksiyonlar, miyelodisplastik sendrom, alt ekstremite ödemi ve multifokal, multisentrik premalign/malign genital lezyonlar gibi Emberger sendromu ile uyumlu bulguları olan, nispeten genç bir hastayı tartışmayı amaçladık. Olası Emberger sendromu için GATA2 geninin sekanslaması gerçekleştirildi ve intron5, c1143+8C >T’de nokta mutasyonu tespit edildi. Jinekologlar, bu sendromun erken teşhisinde ve multidisipliner tedavi seçeneklerinin yönlendirilmesinde önemli bir rol oynayabilir, çünkü ilk belirtiler genital organlarda ortaya çıkabilir.
Anahtar Kelime:

Konular:
Fen > Tıp > Kadın Hastalıkları ve Doğum
Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
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APA YÜKSEL H, ZAFER E (2021). Gynecologic manifestations in Emberger syndrome. Turkish Journal of Obstetrics and Gynecology, 18(1), 65 - 67. 10.4274/tjod.galenos.2021.53050
Chicago YÜKSEL Hasan,ZAFER Emre Gynecologic manifestations in Emberger syndrome. Turkish Journal of Obstetrics and Gynecology 18, no.1 (2021): 65 - 67. 10.4274/tjod.galenos.2021.53050
MLA YÜKSEL Hasan,ZAFER Emre Gynecologic manifestations in Emberger syndrome. Turkish Journal of Obstetrics and Gynecology, vol.18, no.1, 2021, ss.65 - 67. 10.4274/tjod.galenos.2021.53050
AMA YÜKSEL H,ZAFER E Gynecologic manifestations in Emberger syndrome. Turkish Journal of Obstetrics and Gynecology. 2021; 18(1): 65 - 67. 10.4274/tjod.galenos.2021.53050
Vancouver YÜKSEL H,ZAFER E Gynecologic manifestations in Emberger syndrome. Turkish Journal of Obstetrics and Gynecology. 2021; 18(1): 65 - 67. 10.4274/tjod.galenos.2021.53050
IEEE YÜKSEL H,ZAFER E "Gynecologic manifestations in Emberger syndrome." Turkish Journal of Obstetrics and Gynecology, 18, ss.65 - 67, 2021. 10.4274/tjod.galenos.2021.53050