Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report

Sao Paulo Medical Journal

Henrique Soares¹  Ana Maia¹  Miguel Campos¹  Sofia Dória¹  José Manuel Lopes¹  Manuel Fontoura¹ 

[1] ,Universidade do Porto Faculdade de Medicina Hospital de São João

关键词: Mosaicism;    In situ hybridization;    fluorescence;    Gonadoblastoma;    Turner syndrome;    Nevus;    Mosaicismo;    Hibridização in situ fluorescente;    Gonadoblastoma;    Síndrome de Turner;    Nevo epidérmico;   

DOI  :  10.1590/S1516-31802008000500012

来源: SciELO

【 摘 要 】

CONTEXT: 45,X/46,Xidic(Y) mosaicism demands careful and thorough study because of both its variable clinical features and its potential complications. CASE REPORT: The present case relates to a three-year-old girl with the mosaic karyotype 46,X,idic(Y)(q11.2)[23]/45,X[6]. She had no signs of virilization or Turner's syndrome phenotype, but she was referred to our hospital because she presented reduced growth rate, abnormal facies and a melanotic nevus. After examination, she underwent prophylactic gonadectomy because of the risk of gonadoblastoma. Cytogenetic analysis on the streak gonads and blood showed significant differences in the 45,X cell line between these two tissues. The presence of the sex-determining region Y (SRY) gene did not determine male differentiation, which meant in the present case that the predominance of the X cell line in the gonadal tissue was probably due to the determining factor for female sexual differentiation.

【 授权许可】

CC BY   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License