Menopause in rare diseases: Shared research concerns and the case for a dedicated subfield

Scientific knowledge about menopause in females with rare diseases remains scarce, despite emerging evidence that symptoms of rare diseases and the menopausal transition may interact in clinically significant ways. This narrative review synthesizes the literature on menopause across eight rare diseases: Ehlers-Danlos syndrome (EDS), cystic fibrosis (CF), Huntington's disease (HD), lymphangioleiomyomatosis (LAM), myasthenia gravis (MG), systemic scleroderma (SSc), sickle cell disease (SCD), and Turner syndrome (TS), to identify shared research priorities and propose a coordinated agenda for future investigation. Eight cross-cutting themes emerge: (1) hormonal modulation of disease pathophysiology; (2) sex disparities in populations with rare diseases; (3) earlier onset of menopause; (4) overlapping disease and menopausal symptoms that complicate diagnosis and care; (5) disease-specific symptom profiles and menopause outcomes; (6) menopause hormone therapy; (7) quality-of-life issues; and (8) unmet educational needs among rare-disease specialists and gynecologists. Based on these converging themes, we propose establishing a dedicated subfield within menopause research focused on populations with rare diseases. Such a subfield would enable cross-disease comparative inquiry, promote methodological innovation compatible with small populations, support the development of disease-specific clinical guidelines and a registry that proposes hormonal therapy risks and safe options, and advance provider training at the intersection of rare disease and women's health.