A neonate with ambiguous genitalia
Jansen, B.J.; van Rijn, R.R.; van Trotsenburg, A.S.P.P.
Nederlands Tijdschrift Voor Geneeskunde 159: A9095
2015
ISSN/ISBN: 1876-8784 PMID: 26200425 Document Number: 681262
In a neonate with ambiguous genitalia, physical examination revealed a phallus. Ultrasonography showed a vagina and uterus, but no gonads. Because of severe undervirilisation in the presence of a uterus, probably due to 46,XY gonadal dysgenesis, parents were advised female sex assignment. When after a few weeks the phallus had increased in size, abdominal laparoscopy showed an underdeveloped uterus. Gonadal biopsy confirmed gonadal dysgenesis. Sex assignment was reconsidered and changed into the male gender.