PAGOD Syndrome

In 1991, two unrelated patients with heart defects, abnormalities in the diaphragm, and sex reversal were described by Meachem et al. Both patients had an XY chromosome makeup, which was associated with uterine structures, oviducts, and ambiguous genitalia (Meacham et al. 1991; Sorgo et al. 1991; Kennerknecht et al. 1993) also reported affected siblings and proposed the acronym “PAGOD syndrome” to describe the condition. PAGOD syndrome refers to a combination of hypoplasia of the pulmonary tract and pulmonary artery, agonadism, omphalocele, diaphragmatic defect, and dextrocardia (Kennerknecht et al. 1993). Since the first publication in 1991, only 11 patients have been described in the literature. In the described reports, the age of onset was at the neonatal stage.