Clinicopathological features of 45, X/46, Xidic(Y) mosaicism and therapeutic implications: case report / Características clínicopatológicas dos mosaicos 45, X/46, Xidic(Y) e implicações terapêuticas: caso clínico
São Paulo med. j
;
126(5): 297-299, Sept. 2008. ilus
Article
in English
| LILACS
| ID: lil-500342
ABSTRACT
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.
RESUMO
CONTEXTO:
O mosaicismo 45,X/46,Xidic(Y) é uma anomalia genética que exige um estudo minucioso pelas suas variadas formas clínicas e suas potenciais complicações. RELATO DE CASO O presente caso clínico refere-se a uma menina de três anos de idade com cariótipo de linfócitos 46,Xidic(Y)(q11.2)[23]/45,X[6], sem sinais de virilização ou estigmas Turner à excepção de má evolução estaturo-ponderal, fácies peculiar e nevo melânico. Estudada, foi submetida a gonadectomia profiláctica por risco de gonadoblastoma. As bandas gonádicas e sangue periférico foram analisados com evidência de uma diferença acentuada no predomínio de linhagem 45,X nos dois tecidos. A presença do gene SRY não se mostrou determinante no sentido da diferenciação masculina pelo que, neste caso, o predomínio da linhagem X no tecido gonadal parece ter sido o fator determinante no sentido da diferenciação sexual feminina.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Turner Syndrome
/
Mosaicism
Type of study:
Diagnostic study
Limits:
Child, preschool
/
Female
/
Humans
Language:
English
Journal:
São Paulo med. j
Journal subject:
Cirurgia Geral
/
Cincia
/
Ginecologia
/
Medicine
/
Medicina Interna
/
Obstetr¡cia
/
Pediatria
/
Sa£de Mental
/
Sa£de P£blica
Year:
2008
Type:
Article
Affiliation country:
Portugal
Institution/Affiliation country:
Universidade do Porto/PT
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