A case of virilised female with urethral duplication and valve formation.
We report the case of a female (chromosomal 46 XX) with a complex congenital urogenital malformation. Caesarian section was performed at the 30th gestational week due to hydrops fetalis and polyhydramnion. Clinical and radiological evaluation demonstrated a complex urogenital malformation with an enlarged penoclitoral organ, urethral duplication, and concomitant malformations. The girl presented with a female urethra with a vaginal orificium as well as a male urethra culminating in a microphallus. Additionally, a urethral valve formation just cranial to the bifurcation of the male and female urethra was also present. Due to concomitant diseases, a complicated clinical course and recurrent urinary tract infections, the final operative correction resulting in a female phenotype, was performed at the age of 2 (1/2) years as a single-stage procedure.
Haecker
F-M
FM
Department of Paediatric Surgery, University Children's Hospital, Basel, Switzerland. frankmartin.haecker@ukbb.ch
Locher
A
A
von Schweinitz
D
D
D012734:Disorders of Sex Development / Q000235:genetics / Q000601:surgery; D005260:Female; D006801:Humans; D007021:Hypospadias / Q000235:genetics / Q000601:surgery; D007621:Karyotyping; D007813:Laparotomy; D008297:Male; D014521:Urethra / Q000002:abnormalities*