A case of SRY Negative 46, XX Male Syndrome with Deletion on Long Arm of X Chromosome / 대한주산의학회잡지
Korean Journal of Perinatology
;
: 353-358, 2006.
Artigo
em Coreano
| WPRIM
| ID: wpr-83368
ABSTRACT
46,XX male sex reversal syndrome is, also called the de la Chapelle syndrome, a rare cause of abnormal sex determination with an incidence of 1 in 20,000~25,000 male neonates. The condition of 46,XX is characterized by testicular development in subject who have two X chromosomes but who lack a normal Y chromosome. All patients have small and azospermic testes and no evidence of ovarian tissue or Mullerian duct derivatives. XX males can be classified as Y positive or Y negative, depending on the presence or absence of Y specific sequences. SRY positive XX male have normal genitalia with a small penis, however, 10~15% of patients are SRY negative XX male, exhibit various degrees of genital ambiguity and can be diagnosed at birth or during early childhood. We experienced a case of sex determining region on the Y chromosome (SRY) negative 46,XX male syndrome neonate, with deletion on the long arm of X chromosome.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pênis
/
Braço
/
Transtornos do Desenvolvimento Sexual
/
Testículo
/
Cromossomo X
/
Cromossomo Y
/
Incidência
/
Parto
/
Transtornos Testiculares 46, XX do Desenvolvimento Sexual
/
Genitália
Tipo de estudo:
Estudo de incidência
/
Estudo prognóstico
Limite:
Humanos
/
Masculino
/
Recém-Nascido
Idioma:
Coreano
Revista:
Korean Journal of Perinatology
Ano de publicação:
2006
Tipo de documento:
Artigo
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