title: The approach to a neonate with a possible prenatal diagnosis of androgen insensitivity syndrome.
abstract: 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.
authors.affiliation: 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
authors.forename: Arieh
authors.initials: A
authors.lastname: Riskin
authors.forename: Ilana
authors.initials: I
authors.lastname: Koren
authors.forename: David
authors.initials: D
authors.lastname: Bader
authors.forename: Marta
authors.initials: M
authors.lastname: Grün
authors.forename: Hanna
authors.initials: H
authors.lastname: Dar
authors.forename: Zvi
authors.initials: Z
authors.lastname: Leibovitz
authors.forename: Amir
authors.initials: A
authors.lastname: Kugelman
authors.forename: Olaf
authors.initials: O
authors.lastname: Hiort
mesh_terms: 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