Differentiating Swyer syndrome and complete androgen insensitivity syndrome: a diagnostic dilemma.

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.

• Authors: Elsa Nunes, Carla Rodrigues, Fernanda Geraldes, Fernanda Aguas
• Journal: Journal of pediatric and adolescent gynecology (J Pediatr Adolesc Gynecol) Vol. 27 Issue 3 Pg. e67-8 (Jun 2014) ISSN: 1873-4332 [Electronic] United States
• PMID: 24119655 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Topics

• Adolescent
• Amenorrhea (etiology)
• Androgen-Insensitivity Syndrome (diagnosis)
• Diagnosis, Differential
• Female
• Gonadal Dysgenesis, 46,XY (complications, diagnosis, therapy)
• Hormone Replacement Therapy
• Humans
• Male
• Ovary (abnormalities)
• Puberty, Delayed (etiology)
• Uterus (abnormalities)