Research on gonadal phenotype and oleculardetection of 45, X/46, XY karyotype
10.3760/cma.j.cn101070-20200708-01147
- VernacularTitle:45，X/46，XY嵌合体性腺表型与分子生物学分析
- Author:
Xia SHUAI
;
Li YANG
;
Wenbo WU
;
Hui HUANG
;
Ka CHEN
;
Lang ZHANG
;
Yu YANG
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(8):584-588
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the characteristics of gonads, the incidence of gonadal tumors and the detection results of SRY gene and Y chromosome microdeletions in 45, X/46, XY chimeras. Methods:The medical records of 45, X/46, XY karyotype or its variant in Jiangxi Children′s Hospital from January 2013 to December 2019 were analyzed retrospectively and analyze the gonadal phenotype and oleculardetection of 45, X/46, YX karyotype.Results:Among the 30 patients with 45, X/46, XY karyotype or its variant, the age of treatment was under 18 years old, with 11 males and 19 females.Fourteen of the patients had undergone prophylactic gonadectomy.Six male cases of unilateral testis and contralateral striated gonads were detected.Pathological section suggested that the gonadal tissue contained testis and ovary in 3 cases, adrenal gland tissue with translocation in 2 cases, and bilateral striated gonad in 8 cases, and both sexes were female.Pathological section indicated that the gonad tissue contained both epididymis and ovary tissue in 1 case, and gonadoblastoma in 1 case.There were 1 case of ovarian dysplasia with granulomatous hyperplasia and 1 case with proliferative nevus cells (mixed nevus). No follicle was found in all patients with B-ultrasound and pathological sections.Among the 11 male children, 5 cases were positive by SRY gene detection.Seven cases by Y chromosome microdeletion detection displayed that 3 cases had partial Y chromosome deletion and 4 cases had no deletion; 10 cases among 19 cases of social gender female patients were detected by SRY gene detection and 9 cases were positive and 1 case was negative; 7 cases were detected by Y chromosome microdeletion and the results are 2 cases with Y chromosome partial deletion, 4 cases with Y chromosome no deletion and 1 case with Y chromosome whole deletion. Conclusions:Most patients with 45, X/46, XY chimera have abnormal gonadal tissue, which has the risk of gonadal tumor, especially among female patients.Most patients had positive SRY gene and had no or partial deletion of Y chromosome.In view of the increased risk of gonadal tumors in these patients, early prophylactic gonadectomy is recommended.
