Androgen insensitivity syndrome: in utero diagnosis by four-dimensional sonography and amniotic fluid karyotype.
We describe a fetus with androgen insensitivity syndrome diagnosed at 16 weeks' gestation with two-dimensional (2D) and four-dimensional (4D) sonography and karyotype analysis in a 37-year-old pregnant woman. Two-dimensional (2D) sonography revealed a female phenotype. Karyotype analysis revealed an unremarkable 46,XY chromosomal complement. Repeat 4D sonography confirmed a female phenotype with edematous labia majora, consistent with androgen insensitivity syndrome.
Bonilla-Musoles
Fernando
F
Department of Obstetrics and Gynecology, Valencia School of Medicine, Hospital Clínico Blasco Ibáņez, 17 46010 Valencia, Spain.
Kushner-Dávalos
Luis
L
Raga
Francisco
F
Machado
Luiz E
LE
Osborne
Newton G
NG
D000328:Adult; D000649:Amniocentesis; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal / Q000379:methods*