For 46 XY PGD
several genes have been implicated: SRY (gene deletion of or loss-of-function mutations; Yp11.3), NR5A1 (9q33) and DHH (homozygous or compound heterozygous mutations; 12q13.1). In addition, patients with partial duplications of Xp (including the NR0B1 gene) and chromosome 9p deletions (involving the DMRT1 and DMRT2 genes) may also present with isolated 46, XY CGD. Mutations in the CBX2 gene have been rarely reported, namely in a patient with development of ovarian tissue despite 46,XY karyotype. Mutations in the MAP3K1 gene (mapped on chromosome 5q) that cause downstream alterations in the MAP kinase signaling pathway have recently been identified in two familial and two sporadic cases. Environmental factors (maternal progesterone intake during pregnancy), and impaired prenatal growth have also been associated with 46,XY CGD.
This information is come from Orphanet
