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Primary Amenorrhea and Differences of Sex Development
Swetha Naroji1, Veronica Gomez-Lobo1, Courtney Finlayson2
1Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland.
Seminars in Reproductive Medicine
|June 30, 2022
Summary
Primary amenorrhea can indicate a difference in sex development, often caused by congenital anomalies or hormonal issues. Evaluation involves physical exams, hormone tests, imaging, and genetic testing for proper diagnosis and care.
Area of Science:
- Reproductive Endocrinology
- Genetics
- Pediatric Endocrinology
Background:
- Primary amenorrhea is a key sign of potential differences in sex development (DSD).
- Congenital anatomic differences and hypergonadotropic hypogonadism are common causes.
- Early identification is crucial for appropriate management.
Purpose of the Study:
- To outline the diagnostic approach for primary amenorrhea in the context of DSD.
- To emphasize the importance of a thorough clinical evaluation.
- To highlight the need for multidisciplinary care in DSD.
Main Methods:
- Detailed patient history, focusing on birth variations and pubertal progression.
- Comprehensive physical examination, including assessment of external genitalia.
- Hormone level measurements, diagnostic imaging, and genetic testing.
Main Results:
- Primary amenorrhea frequently presents as a symptom of DSD.
- Diagnostic evaluation requires a combination of clinical, hormonal, imaging, and genetic data.
- The etiology of DSD varies, necessitating a tailored diagnostic pathway.
Conclusions:
- A systematic evaluation is essential for diagnosing DSD in patients with primary amenorrhea.
- Multidisciplinary team care, including psychosocial support, is vital for individuals with DSD.
- Timely diagnosis and management improve outcomes for patients with primary amenorrhea and DSD.
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