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  • Title: Differentiating Swyer syndrome and complete androgen insensitivity syndrome: a diagnostic dilemma.
    Author: Nunes E, Rodrigues C, Geraldes F, Aguas F.
    Journal: J Pediatr Adolesc Gynecol; 2014 Jun; 27(3):e67-8. PubMed ID: 24119655.
    Abstract:
    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.
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