Diagnostic puzzles in primary amenorrhea: a report of 3 cases

Primary amenorrhea is a common referral indication in pediatric and adolescent endocrinology and can occur due to hypothalamic-pituitary disorders, uterovaginal anatomical anomalies, or gonadal dysfunction. We describe 3 adolescents presenting with primary amenorrhea and otherwise appropriate pubertal development, due to Mayer-Rokitansky-Kuster-Hauser syndrome, each illustrating a distinct diagnostic challenge. The patient in case 1, who also had concerns of short stature, had elevated gonadotropin levels, suggesting a possibility of primary ovarian insufficiency. However, a normal estradiol level and repeat gonadotropin testing clarified the underlying hormonal physiology. The patient in case 2 presented with bilateral inguinal swellings and primary amenorrhea mimicking androgen insensitivity, but imaging demonstrated ectopic ovaries with absent Müllerian structures. The patient in case 3 had primary amenorrhea and a large lumbosacral mass with neurological symptoms, due to a lipomeningomyelocele associated with Müllerian agenesis. A structured evaluation incorporating repeat hormonal assessment and detailed imaging clarified the diagnosis in all cases. This report highlights the common diagnostic pitfalls during evaluation for primary amenorrhea and emphasizes the importance of reviewing the biochemical data in the context of clinical and imaging findings. In addition, a retrospective review of our cohort of adolescent girls with similar presentations is elaborated to highlight the range of associated findings.