A Case of SRY Positive 46,XX Male / 대한소아내분비학회지
Journal of Korean Society of Pediatric Endocrinology
;
: 184-188, 2003.
Artigo
em Coreano
| WPRIM
| ID: wpr-138137
ABSTRACT
46,XX male is a rare abnormality of sex determination with an incidence of 1 in 20,000 male neonates. The clinical manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia, and hyalinations of seminiferous tubules, with altered hormonal levels at puberty. Less frequently, some sexual ambiguities are found, always with sterility owing to reduced testicular development. The origin of male phenotype in 46,XX male could be the results of at least three different mechanismstranslocations of Y sequence, including the SRY gene, to an X chromosome or to an autosome(about 90% of cases); a mutation in a yet unknown X-linked or autosomal gene in the testis-determinating pathway, and cryptic Y chromosome mosacism. We experienced a case of SRY-positive 46,XX male in a 21-year-old man with small testes. (J Korean Soc Pediatr Endocrinol 2003;8184-188)
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Túbulos Seminíferos
/
Testículo
/
Cromossomo X
/
Cromossomo Y
/
Incidência
/
Puberdade
/
Genes sry
/
Azoospermia
/
Ginecomastia
Tipo de estudo:
Estudo de incidência
/
Estudo prognóstico
Limite:
Adolescente
/
Humanos
/
Masculino
/
Recém-Nascido
Idioma:
Coreano
Revista:
Journal of Korean Society of Pediatric Endocrinology
Ano de publicação:
2003
Tipo de documento:
Artigo
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