Endometrial carcinoma in a patient having 45,X Turner syndrome with gonadal mosaicism.
Only three cases of endometrial carcinoma in women with possibly pure 45,X Turner syndrome without previous unopposed estrogen therapy have been reported. A 46-year-old single nulligravid woman with Turner syndrome phenotype, spontaneous menstruation, and well-differentiated adenocarcinoma of the endometrium was diagnosed as having the 45,X karyotype from peripheral blood, skin, buccal cells, and endometrium, which was confirmed using fluorescence in situ hybridization (FISH). Analysis of the ovarian tissue using FISH confirmed 45,X/46,XX mosaicism. Gonadal mosaicism may help to interpret spontaneous menstruation and endometrial carcinoma in possibly pure 45,X Turner syndrome. We conclude that a molecular analysis of lymphocytes and various tissues is necessary for detecting low-level mosaicism in apparently homogeneous 45,X women.
Department of Obstetrics and Gynecology, Gyeongsang National University, JinJu, Korea.
Ji Kwon
JK
Park
Jae Ik
JI
Lee
Dong Chul
DC
Kim
Hyun Cheol
HC
Jo
Jeong Kyu
JK
Shin
Soon Ae
SA
Lee
Jong Hak
JH
Lee
Won Young
WY
Paik
D000230:Adenocarcinoma / Q000150:complications* / Q000473:pathology; D016889:Endometrial Neoplasms / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008875:Middle Aged; D009030:Mosaicism; D010053:Ovary / Q000473:pathology*; D014424:Turner Syndrome / Q000150:complications* / Q000473:pathology; D014599:Uterus / Q000473:pathology*