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

• Type: Article in International Scientific Journal
• Date: 2008

Authors

Soares H (Author) FMUP; Maia A (Author) Other; Miguel Campos (Author) FMUP; Doria S (Author) FMUP; Lopes JM (Author) FMUP; Fontoura M (Author) FMUP

Journal

Title: Sao Paulo Medical Journal

Vol. 126 No. 5

Pages: 297-299

ISSN: 1516-3180

Publisher: Associação Paulista de Medicina

Indexing

ISI Web of Knowledge - 4 Citations

Scopus - 6 Citations

Pubmed / Medline

Scientific classification

FOS: Medical and Health sciences > Clinical medicine

Other information

Authenticus ID: P-003-W8M

DOI: 10.1590/s1516-31802008000500012

Abstract (EN): 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 rote, 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 mole 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 3