BACKGROUND: Swyer syndrome and complete androgen insensitivity syndrome are disorders of sex development in which patients present a female phenotype and 46,XY karyotype. CASE: The authors present a case report of an 18-year-old patient with primary amenorrhea and delayed puberty. The karyotype was 46,XY. No mutations of sex-determining region Y gene and androgen receptor genes were identified, and imaging methods failed to show müllerian structures. A diagnosis of complete androgen insensitivity syndrome was presumed, but after hormonal replacement therapy was started a "hidden" uterus developed, leading to the definite diagnosis of Swyer syndrome. SUMMARY AND CONCLUSION: The diagnosis of Swyer syndrome can be challenging, because visualization of müllerian structures is sometimes difficult and analysis of genetic mutations is not helpful in the majority of cases.
BACKGROUND:Swyer syndrome and complete androgen insensitivity syndrome are disorders of sex development in which patients present a female phenotype and 46,XY karyotype. CASE: The authors present a case report of an 18-year-old patient with primary amenorrhea and delayed puberty. The karyotype was 46,XY. No mutations of sex-determining region Y gene and androgen receptor genes were identified, and imaging methods failed to show müllerian structures. A diagnosis of complete androgen insensitivity syndrome was presumed, but after hormonal replacement therapy was started a "hidden" uterus developed, leading to the definite diagnosis of Swyer syndrome. SUMMARY AND CONCLUSION: The diagnosis of Swyer syndrome can be challenging, because visualization of müllerian structures is sometimes difficult and analysis of genetic mutations is not helpful in the majority of cases.