title: A rare case of ambiguous genitalia.
abstract: 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.
authors.affiliation: Department of Paediatrics, Universiti Kebangsaan Malaysia, Jalan Tenteram, Bandar Tun Razak, Cheras, Kuala Lumpur, Malaysia. sfng_2001@yahoo.com
authors.forename: S F
authors.initials: SF
authors.lastname: Ng
authors.forename: N Y
authors.initials: NY
authors.lastname: Boo
authors.forename: L L
authors.initials: LL
authors.lastname: Wu
authors.forename: S
authors.initials: S
authors.lastname: Shuib
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D000782:Aneuploidy; D041321:Chromosomes, Human, X / Q000235:genetics*; D005832:Genital Diseases, Male / Q000209:etiology / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D025064:Sex Chromosome Disorders / Q000235:genetics* / Q000473:pathology*