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.
Ng
S F
SF
Department of Paediatrics, Universiti Kebangsaan Malaysia, Jalan Tenteram, Bandar Tun Razak, Cheras, Kuala Lumpur, Malaysia. sfng_2001@yahoo.com
Boo
N Y
NY
Wu
L L
LL
Shuib
S
S
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*