The approach to a neonate with a possible prenatal diagnosis of androgen insensitivity syndrome.
The diagnosis of androgen insensitivity syndrome (AIS) can now be made prenatally. We present a patient for whom the diagnosis of AIS was highly suspected prenatally, but the parents preferred to deny it. The clinical findings and the diagnostic evaluation after delivery are presented. A brief discussion of the syndrome, as well as the implications of possible prenatal diagnosis and how to approach it, are provided. Full multidisciplinary diagnostic work-up immediately after delivery, as well as awareness of possible prenatal diagnosis, is the responsibility of the primary care provider for the newborn with suspected AIS.
Riskin
Arieh
A
Department of Neonatology, Bnai Zion Medical Center, B. Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel. arik.riskin@b-zion.org.il
Koren
Ilana
I
Bader
David
D
Grün
Marta
M
Dar
Hanna
H
Leibovitz
Zvi
Z
Kugelman
Amir
A
Hiort
Olaf
O
D000649:Amniocentesis; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis* / Q000235:genetics; D003241:Consanguinity; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012727:Sex Characteristics