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Semin Reprod Med 2022; 40(01/02): 016-022
DOI: 10.1055/s-0042-1753551
Review Article

Primary Amenorrhea and Differences of Sex Development

Swetha Naroji
1   Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland
,
Veronica Gomez-Lobo
1   Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland
,
Courtney Finlayson 
2   Ann & Robert H. Lurie Children's Hospital, Northwestern University Feinberg School of Medicine, Chicago, Illinois
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Abstract

Primary amenorrhea may be a feature or a presenting sign of a difference of sex development, most often due to a congenital anatomic difference or hypergonadotropic hypogonadism. History and physical exam are very important, including whether any variation in external genitalia was present at birth as well as a careful review of pubertal development. Further evaluation includes hormone measurement, imaging, and genetic evaluation. Those with a disorder of sexual development diagnosis should receive care through a multidisciplinary team with psychosocial support.

Keywords

primary amenorrhea - difference of sex development - intersex - complete androgen insensitivity syndrome - Turner syndrome


Publication History

Article published online:
30 June 2022

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