Female external genitalia, absent uterus, and probable agonadism in a 46,XY infant with bilateral upper amelia

This report describes a 46,XY phenotypic female infant with absent uterus, probable agonadism, and bilateral upper amelia. The constellation of anomalies is similar to that of the patient described by Temocin et al. (Acta Paediatr Jpn 1997: 39: 631–633), and may suggest a developmental link between genital region and upper limbs.