TY  - JOUR
TI  - Gynecologic manifestations in Emberger syndrome
AB  - 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.
AU  - Yüksel, Hasan
AU  - ZAFER, EMRE
DO  - 10.4274/tjod.galenos.2021.53050
PY  - 2021
JO  - Turkish Journal of Obstetrics and Gynecology
VL  - 18
IS  - 1
SN  - 2149-9322
SP  - 65
EP  - 67
DB  - TRDizin
UR  - http://search/yayin/detay/425305
ER  -