Pagod Syndrome

Clinical Features

Sorgo et al. (1991) reported agonadism associated with multiple internal malformations in a 46,XY female and her 46,XX sister. In a later study of this family, Kennerknecht et al. (1993) interpreted the family as representing a gene mutation that led to the regression of midline structures including the gonadal anlage. Kennerknecht et al. (1993) noted that the 2 girls had similar internal malformations, including agonadism, hypoplasia of the right pulmonary artery, hypoplasia of the right lung, isolated dextrocardia with complex cardiac malformation, and diaphragmatic hernia or omphalocele (each in 1 sib only). They suggested that the disorder be called PAGOD syndrome for pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele/diaphragmatic defect, and dextrocardia. The different sex chromosome status excluded the Y chromosome as the responsible factor. The finding of a 46,XX sex chromosome constitution combined with agonadism and an intact urogenital tract emphasized the concept of secondary regression of wolffian and mullerian structures. Kennerknecht et al. (1993) pointed to a similar situation of familial XY and XX agonadism in 2 sisters (600171) reported by Mendonca et al. (1993).