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Diagnostic Approach to Müllerian Anomalies

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Congenital Müllerian Anomalies

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Abstract

The diagnosis of Müllerian duct anomalies can be challenging. Appropriate and timely diagnosis may have profound effects on long-term quality of life, future fertility, and obstetrical outcomes. While most congenital obstructive malformations are detected during adolescence as a result of amenorrhea, dysmenorrhea, or pelvic pain, diagnosis of nonobstructive uterine anomalies may be delayed until fertility is compromised or obstetrical complications occur. A detailed history provides important data regarding syndromes associated with aberrant Müllerian duct formation, the chronicity of pubertal milestones, sexual functioning, and reproductive outcomes, while the physical examination allows for anatomical identification of lower genital tract abnormalities. In girls with Müllerian defects, imaging studies augment the physical findings and allow for a clearer understanding of the internal reproductive organs. Additionally, pelvic imaging is specifically valuable in distinguishing idiopathic dysmenorrhea from functional or structural causes of pelvic pain. Furthermore, precise imaging can help guide accurate surgical intervention. Genetic testing may be useful as an adjunct to understanding structural defects associated with disorders of sex development and other genetic syndromes. This chapter will provide a comprehensive approach to diagnosis of obstructive and nonobstructive congenital anomalies of the Müllerian ducts and other related congenital anomalies of the reproductive tract.

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Authors and Affiliations

  1. Division of Pediatric and Adolescent Gynecology, Cohen Children’s Medical Center of NY/Northwell Medical Center, Hofstra North Shore LIJ School of Medicine, 270-05 76th Ave, New Hyde Park, NY, 11040, USA

    Heather Appelbaum M.D.

  2. Pediatric Radiology, Cohen Children’s Medical Center of NY/Northwell Medical Center, Hofstra North Shore LIJ School of Medicine, 270-05 76th Ave, New Hyde Park, NY, 11040, USA

    Jeanne Choi-Rosen M.D.

  3. Department of Obstetrics and Gynecology, Cohen Children’s Medical Center of NY/Northwell Medical Center, Hofstra North Shore LIJ School of Medicine, 270-05 76th Ave, New Hyde Park, NY, 11040, USA

    Shawna Tonick M.D.

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  1. Heather Appelbaum M.D.
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  2. Jeanne Choi-Rosen M.D.
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  3. Shawna Tonick M.D.
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Correspondence to Heather Appelbaum M.D. .

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  1. Weill Cornell Medical College, New York, New York, USA

    Samantha M. Pfeifer

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Appelbaum, H., Choi-Rosen, J., Tonick, S. (2016). Diagnostic Approach to Müllerian Anomalies. In: Pfeifer, S. (eds) Congenital Müllerian Anomalies. Springer, Cham. https://doi.org/10.1007/978-3-319-27231-3_2

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  • DOI: https://doi.org/10.1007/978-3-319-27231-3_2

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