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

• Tipo: Artigo em Revista Científica Internacional
• Data: 2008

Autores

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

Revista

Título: Sao Paulo Medical Journal

Vol. 126 Nº 5

Páginas: 297-299

ISSN: 1516-3180

Editora: Associação Paulista de Medicina

Indexação

ISI Web of Knowledge - 4 Citações

Scopus - 6 Citações

Pubmed / Medline

Classificação Científica

FOS: Ciências médicas e da saúde > Medicina clínica

Outras Informações

ID Authenticus: 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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 3