Updated Causes of Primary Amenorrhea [ID: 1381195

Abstract

INTRODUCTION: Pubertal progression within a normal cadence is an important marker of natal female health. Data regarding causes of primary amenorrhea in a United States' adolescent population have not been published since 1981. We hypothesize that hyperandrogenism/polycystic ovarian syndrome (PCOS) is an increasingly common cause of primary amenorrhea. METHODS: A retrospective chart review was performed to identify patients with primary amenorrhea. A total of 1,785 charts were identified, of which 1,052 charts have been reviewed. Patients with hyperandrogenism/PCOS were classified by meeting any recommended diagnostic criteria for PCOS in adolescents or an elevated total or free testosterone based on Tanner staging with all other conditions ruled out. Other diagnoses for primary amenorrhea were classified per the American Society for Reproductive Medicine guidelines. RESULTS: Of the 1,052 charts reviewed so far, 263 patients met criteria for primary amenorrhea. Causes in order of prevalence were as follows: 85 hyperandrogenism/PCOS (32.3%), 71 hypothalamic hypogonadism (27%), 36 physiologic delay (13.7%), 19 primary hypogonadism (7.2%), 15 other endocrine causes (5.7%), 8 pituitary (3%), and 4 anatomic (1.5%). Twenty-five (9.5%) patients were unable to be classified. Of the 71 patients with hypothalamic hypogonadism, 27 (38%) had relative energy deficiency in sport (RED-S) making it the most common diagnosis of patients in this categorization. CONCLUSION: Polycystic ovarian syndrome/hyperandrogenism and RED-S are among the top three causes of primary amenorrhea. Proposed reasons for the shift in causes of primary amenorrhea over time include increasing obesity rates and metabolic syndrome in adolescents on one hand as well as increasing access to high-level athletics on the other.