Diagnostic tests for Swyer syndrome

The diagnosis of Swyer's syndrome is made through a detailed clinical evaluation together with the identification of phenotypic characteristics (amenorrhea, undeveloped and fibrous ovaries). In addition, a series of tests are performed including

• Hormone analysis, which will show a decrease in anti-mullerian hormone and testosterone; while FSH and LH hormones will be elevated.
• Karyotype.
• Molecular analysis to determine the presence of mutations in the genes.