Semilobar holoprosencephaly in a 46,XY female fetus

I Witters; P Moerman; M Muenke; F A Van Assche; K Devriendt; E Legius; D Van Schoubroeck; J P Fryns

doi:10.1002/pd.151

Semilobar holoprosencephaly in a 46,XY female fetus

Prenat Diagn. 2001 Oct;21(10):839-41. doi: 10.1002/pd.151.

Authors

I Witters¹, P Moerman, M Muenke, F A Van Assche, K Devriendt, E Legius, D Van Schoubroeck, J P Fryns

Affiliation

¹ Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium.

PMID: 11746125
DOI: 10.1002/pd.151

Abstract

We report the prenatal echographic diagnosis of holoprosencephaly (HPE) at 11 weeks' gestation. Fetopathological examination revealed an unusual variant of semilobar HPE with middle interhemispheric fusion associated with sex-reversal: 46,XY normal male karyotype, normal external and internal female genitalia and streak gonads.

Publication types

Case Reports

MeSH terms

Adult
Disorders of Sex Development* / complications
Disorders of Sex Development* / diagnosis
Female
Gestational Age
Holoprosencephaly / complications
Holoprosencephaly / diagnostic imaging*
Humans
Karyotyping
Male
Pregnancy
Ultrasonography, Prenatal*