Clinical indicators to define etiology in patients with primary amenorrhea: Lessons from a decade of experience

CONTEXT: Primary Amenorrhea is worrisome for the adolescent as well as their guardian. It is essential to be able to identify the underlying pathology and initiate appropriate management strategies, well in time. AIMS: To study the clinical features, with an aim to identify discriminatory clinical features to indicate a most probable diagnosis. DESIGN: A prospective, observational study. SETTING: The Gynecologic Endocrinology Clinic of Department of Obstetrics and Gynecology and Endocrinology Outpatient Department of a tertiary centre in North India. METHODOLOGY: In total 328 women with primary amenorrhea, registered during a duration of 10 years (January 2008 to December 2017), were enrolled for the study and a proforma was filled with their medical details. RESULTS: It was observed that patients with normal stature and underdeveloped breasts were likely to be hypogonadotropic hypogonadism, whereas those with short stature and underdeveloped breasts were more likely to be gonadal failure with underlying chromosomal abnormality. The three most common causes of primary amenorrhea in the index population were hypogonadotropic hypogonadism (117/328 = 35.1%), gonadal dysgenesis (99/328 = 30.2%) and mullerian agenesis (53/328 = 16.2%). CONCLUSION: Age, height, and Tanner staging at presentation can provide a clue toward diagnosis, even before confirmatory tests are available. One of the largest studies reported on primary amenorrhea, we found hypogonadotropic hypogonadism to be the commonest cause, in contrast to previous studies.