FREQUENCY AND CAUSES OF PRIMARY AMENORRHEA IN FEMALE PATIENTS PRESENTING AT JINNAH POSTGRADUATE MEDICAL CENTRE (JPMC), KARACHI

Background: Primary amenorrhea is an important gynecological and endocrine disorder characterized by the absence of menarche beyond the expected age of pubertal development. The condition may result from a variety of congenital, genetic, endocrine, or anatomical abnormalities and requires early diagnosis to prevent adverse reproductive and psychosocial outcomes. Limited local data are available regarding the etiological spectrum of primary amenorrhea in Pakistan. Objective: To determine the frequency and causes of primary amenorrhea among female patients presenting to Jinnah Postgraduate Medical Centre (JPMC), Karachi. Methods: This descriptive cross-sectional study was conducted in the Department of Obstetrics and Gynaecology, Jinnah Postgraduate Medical Centre, Karachi. A total of 297 female patients with primary amenorrhea were enrolled using a non-probability consecutive sampling technique. Demographic information, clinical findings, hormonal profiles, imaging studies, and relevant diagnostic investigations were recorded using a structured proforma. The underlying etiology was established based on clinical, laboratory, radiological, and genetic evaluation where indicated. Data were analyzed using SPSS version 26. Quantitative variables were expressed as mean ± standard deviation, while qualitative variables were presented as frequencies and percentages. Results: A total of 297 patients were included in the study with a mean age of 17.8 ± 3.2 years. The majority of participants belonged to the 16–20 years age group (49.8%). Secondary sexual characteristics were present in 65.0% of patients. Müllerian agenesis was the most common cause of primary amenorrhea, accounting for 26.3% of cases, followed by gonadal dysgenesis (21.2%), hypogonadotropic hypogonadism (16.5%), Turner syndrome (12.8%), constitutional delay of puberty (10.4%), endocrine disorders (8.1%), and other causes (4.7%). Conclusion: Müllerian agenesis was the most frequent cause of primary amenorrhea among females presenting to this tertiary care center, followed by gonadal dysgenesis and hypogonadotropic hypogonadism. Comprehensive clinical assessment supported by hormonal, radiological, and genetic investigations is essential for accurate diagnosis. Early recognition of the underlying etiology may facilitate timely management and improve reproductive and psychosocial outcomes.