Premature ovarian insufficiency in young women: a comprehensive case series highlighting diverse etiologies and integrated diagnostic approaches

Abstract

Background: Premature Ovarian Insufficiency (POI) is a complex endocrinopathy characterized by loss of ovarian function before 40 years of age, manifesting as amenorrhea, elevated gonadotropins, hypoestrogenism, and infertility. Etiologies vary widely, including idiopathic, autoimmune, genetic, and iatrogenic causes. Early diagnosis and tailored management are critical to mitigating long-term sequelae. Case series: We present four cases of POI in women aged 29-35 years with varying etiologies: idiopathic, autoimmune thyroiditis-associated, chemotherapy-induced, and Fragile X premutation-related. Comprehensive hormone profiles consistently demonstrated elevated follicle-stimulating hormone (FSH) and luteinizing hormone (LH), suppressed estradiol, and reduced Anti-Müllerian Hormone (AMH) levels. Ancillary investigations – genetic testing, autoimmune markers, and pelvic ultrasonography – were instrumental in etiologic classification. Management included individualized hormone replacement therapy, autoimmune disease control, and genetic counseling alongside fertility preservation discussions. Discussion and comparison: Our cases align with recent literature highlighting a shifting etiological spectrum toward identifiable causes with improved diagnostics. Comparative analysis with major contemporary studies underscores consistent biochemical patterns and evolving diagnostic protocols. Despite advances, fertility outcomes remain suboptimal, reinforcing the need for multidisciplinary, patient-centric care. Conclusions: This case series underscores the heterogeneity and diagnostic challenges of POI while illustrating comprehensive multidisciplinary evaluation and personalized management strategies aimed at improving quality of life and reproductive outcomes in affected women.