Type your tag names separated by a space and hit enter
A rare case of ambiguous genitalia.
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.
Department of Paediatrics, Universiti Kebangsaan Malaysia, Jalan Tenteram, Bandar Tun Razak, Cheras, Kuala Lumpur, Malaysia. email@example.com, ,
Chromosomes, Human, X
Genital Diseases, Male
Sex Chromosome Disorders
Pub Type(s)Case Reports