Jansen Burgo J, van Rijn Rick R, van Trotsenburg A S P Paul
Academisch Medisch Centrum, Amsterdam.
Ned Tijdschr Geneeskd. 2015;159:A9095.
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.
在一名生殖器模糊的新生儿中，体格检查发现有阴茎。超声检查显示有阴道和子宫，但未发现性腺。由于存在子宫却严重雄激素化不足，可能是由于46,XY性腺发育不全，建议父母将其性别指定为女性。几周后阴茎增大，腹部腹腔镜检查显示子宫发育不全。性腺活检证实为性腺发育不全。重新考虑性别指定并改为男性。
