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Ng SF, Boo NY, Wu LL, Shuib S
Correspondence: Dr Ng Sheau Fang, email@example.com
Genes on the Y chromosome are essential for normal sex determination and sex differentiation of male genitalia. However, genes on the X chromosome and other autosomes have been shown to be anti-testes and have a detrimental effect on this process. Addition of X chromosomes to the 46,XY karyotype results in seminiferous tubules dysgenesis, hypogonadism and malformed genitalia. We report a term male newborn with 49,XXXXY syndrome presenting with ambiguous genitalia, multiple extra-gonadal anomalies, facial dysmorphism, and radioulnar synostosis.
Keywords: ambiguous genitalia, facial dysmorphism, male genitalia, radioulnar synostosis, 49,XXXXY syndrome
Singapore Med J 2007; 48(9): 858–861