Hidden Diagnoses Behind Primary Amenorrhea: A Focus on Rare Syndromes

What is known. PA with infertility can stem from rare conditions like Müllerian anomalies or DSD. Diagnosis requires systematic investigation, but in resource-limited settings, access to comprehensive testing is a major barrier. The problem addressed. In African healthcare contexts, the diagnostic approach to PA is often fragmented. The pivotal role of genetic testing (karyotype) is frequently overlooked due to cost or lack of access, leading to misdiagnosis and mismanagement. What this study adds. This case series of three Cameroonian women (aged 25–30) with PA illustrates three distinct, rare diagnoses: MRKH syndrome (46,XX), PAIS (46,XY), and CAIS (46,XY). It provides a clear diagnostic algorithm applied in a resource-constrained setting and highlights that the phenotype (normal female appearance in two cases) was misleading without karyotype results. How this is relevant to clinical practice. The findings mandate integrating karyotype analysis as a cornerstone in the PA diagnostic toolkit, even when the phenotype appears typical. Building local capacity for genetic testing and multidisciplinary management (endocrinology, psychology, surgery) is essential to provide timely, life-altering care for these patients. This publication is available in full in Health Sciences and Disease.