title: Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis.
abstract: A 45,X/46,Xidic(Y)(q11.2) mosaicism was found in a 4-year-old boy. The clinical appearance was characterized by bilateral cryptorchidism, penoscrotal hypospadias, short penis, and coarctation of the aorta. The latter is the only abnormality also seen in Turner syndrome. A biopsy of the gonads revealed normal prepubertal testicular tissue. A chromosome analysis in all boys with penoscrotal, scrotal, or perineal hypospadias and a thorough examination of the heart in children with 45,X/46,XY mosaicism are recommended.
authors.affiliation: Department of Pediatric Surgery, Children's Hospital, Lucerne, Switzerland.
authors.forename: D
authors.initials: D
authors.lastname: Konrad
authors.forename: R
authors.initials: R
authors.lastname: Sossai
authors.forename: H L
authors.initials: HL
authors.lastname: Winklehner
authors.forename: F
authors.initials: F
authors.lastname: Binkert
authors.forename: S
authors.initials: S
authors.lastname: Artan
authors.forename: A F
authors.initials: AF
authors.lastname: Schärli
mesh_terms: D001017:Aortic Coarctation / Q000150:complications / Q000235:genetics* / Q000601:surgery; D002675:Child, Preschool; D002871:Chromosome Banding; D006060:Gonadal Dysgenesis, Mixed / Q000150:complications / Q000235:genetics* / Q000601:surgery; D006801:Humans; D007021:Hypospadias / Q000150:complications / Q000235:genetics* / Q000601:surgery; D007621:Karyotyping; D008297:Male; D009030:Mosaicism