Genetic associations of Swyer syndrome include: Type OMIM Gene Locus 46,XY gonadal dysgenesis, complete, SRY-related SRY Yp11.3 46,XY gonadal dysgenesis, complete or partial, DHH-related DHH 12q13.1 46,XY gonadal dysgenesis, complete or partial, with or without adrenal failure NR5A1 9q33 46,XY gonadal dysgenesis, complete, CBX2-related CBX2 17q25 46,XY gonadal dysgenesis, complete or partial, with 9p24.3 deletion DMRT1/2 9p24.3 Seven other genes have been identified with probable associations that are as-yet less clearly understood. Pure gonadal dysgenesis There are several forms of gonadal dysgenesis. The term "pure gonadal dysgenesis" (PGD) has been used to describe conditions with normal sets of sex chromosomes (e.g., 46,XX or 46,XY), as opposed to those whose gonadal dysgenesis results from missing all or part of the second sex chromosome. The latter group includes those with Turner syndrome (i.e., 45,X) and its variants, as well as those with mixed gonadal dysgenesis and a mixture of cell lines, some containing a Y chromosome (e.g., 46,XY/45,X). Thus Swyer syndrome is referred to as PGD, 46,XY, and<unk>  as PGD, 46,XX. People with PGD have a normal karyotype but may have defects of a specific gene on a chromosome.
XY gonadal dysgenesis
XX gonadal dysgenesis
Thyroid dysgenesis
Complete androgen insensitivity syndrome
Mild androgen insensitivity syndrome
Gonadotropin-releasing hormone insensitivity
Gonadal dysgenesis
Müllerian agenesis