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.
Article
in Korean
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Penis
/
Arm
/
Disorders of Sex Development
/
Testis
/
X Chromosome
/
Y Chromosome
/
Incidence
/
Parturition
/
46, XX Testicular Disorders of Sex Development
/
Genitalia
Type of study:
Incidence study
/
Prognostic study
Limits:
Humans
/
Male
/
Infant, Newborn
Language:
Korean
Journal:
Korean Journal of Perinatology
Year:
2006
Type:
Article
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