Korean J Perinatol.  2006 Sep;17(3):353-358.

A case of SRY Negative 46, XX Male Syndrome with Deletion on Long Arm of X Chromosome

Affiliations
  • 1Department of Pediatrics, College of Medicine, Inje University, Busan, Korea. pedsin@inje.ac.kr
  • 2Department of Clinical Pathology, College of Medicine, Inje University, Busan, Korea.

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.

Keyword

XX male; Ambiguous genitalia; Sex-determining region of Y (SRY)
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