Comprehensive Assessment of Hormonal Disruption in Primary Amenorrhea

Abstract

Background: Primary amenorrhea is a heterogeneous condition reflecting disorders of hypothalamic–pituitary–ovarian function or reproductive tract development, and delayed presentation is common in resource-variable settings. Objective: To determine hormonal patterns and etiological distribution of primary amenorrhea among females presenting to tertiary care hospitals in South Punjab, Pakistan. Methods: This observational cross-sectional study enrolled 58 females with primary amenorrhea over two months. Clinical evaluation included demographics, BMI, Tanner breast staging, and pelvic ultrasonography. Serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol, prolactin, and thyroid-stimulating hormone (TSH) were measured using chemiluminescent immunoassays. Participants were stratified by FSH into hypogonadotropic (<3 mIU/mL), eugonadotropic (3–10 mIU/mL), and hypergonadotropic (>40 mIU/mL) categories. Etiology was determined using integrated clinical, biochemical, and imaging findings. Results: Mean age was 17.4 ± 2.1 years. Eugonadotropic amenorrhea was most common (44.8%), followed by hypogonadotropic (31.0%) and hypergonadotropic amenorrhea (24.1%). Outflow tract anomalies were the leading etiology (36.2%), followed by ovarian disorders (24.1%), hypothalamic–pituitary dysfunction (20.7%), and PCOS (12.1%). Eugonadotropic patients had the highest mean estradiol, while hypergonadotropic cases had markedly reduced estradiol. Conclusion: Structural and ovarian etiologies predominated, and hormonal stratification combined with ultrasonography supported pragmatic etiological triage and management planning.