Etiological Spectrum and Diagnostic Approach in Primary Amenorrhea: Insights from a Case Series of 26 Patients

Background: Primary amenorrhea is a clinical sign with a diverse etiological spectrum, including chromosomal, structural, endocrine, and functional disorders. Timely diagnosis and appropriate management are crucial to initiate puberty, prevent complications, and address reproductive concerns. Aim: This study aims to analyze the clinical profile, etiological spectrum, diagnostic approach, and management strategies in patients with primary amenorrhea at a tertiary care center. Methods: This retrospective observational study of 26 cases diagnosed with primary amenorrhea between 2018 and 2023. Data on demographics, clinical features, hormonal assays, imaging findings, karyotypes, and management were extracted from hospital records and analyzed. Results: Patients presented between 13 and 23 years of age. The most common cause was gonadal dysfunction (50%), comprising Turner syndrome ( n = 6), 46, XX premature ovarian insufficiency (POI) ( n = 2), and 46, XY disorders of sex development ( n = 4). Other causes included hypogonadotropic hypogonadism ( n = 4), functional amenorrhea due to systemic illness ( n = 3), endocrine disorders affecting the hypothalamic–pituitary–gonadal axis ( n = 2), outflow tract anomalies ( n = 3), and hyperandrogenism ( n = 2), including late-onset congenital adrenal hyperplasia ( n = 1) and polycystic ovary syndrome ( n = 1). Hormonal evaluation and pelvic ultrasound were essential first-line investigations, supported by karyotyping and magnetic resonance imaging in selected cases. Abnormal karyotypes were observed in 8 patients. Management involved hormone replacement therapy, gonadectomy in patients with Y chromosome material, and surgical correction for anatomical defects. Conclusion: A systematic diagnostic approach involving clinical examination, Tanner staging, hormone profiling, imaging, and genetic testing enables accurate classification of primary amenorrhea. Early diagnosis and individualized management plans are vital for optimal pubertal induction, psychosocial well-being, and reproductive health. Multidisciplinary care plays a key role in improving long-term outcomes.