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Ned Tijdschr Geneeskd ; 159: A9095, 2015.
Article in Dutch | MEDLINE | ID: mdl-26200425

ABSTRACT

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.


Subject(s)
Disorders of Sex Development/diagnosis , Disorders of Sex Development/genetics , Gonadal Dysgenesis, 46,XY/diagnosis , Turner Syndrome/diagnosis , Diagnosis, Differential , Female , Humans , Infant, Newborn , Male
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