Growth and pubertal development in children with familial Mediterranean fever under colchicine therapy.

purposeFamilial Mediterranean fever (FMF) is the most common hereditary autoinflammatory disease in childhood. While its impact on linear growth has been partially explored, data on pubertal development remain scarce. This study aimed to evaluate growth and pubertal characteristics in children with FMF by comparing them with national reference data.

methodsThis retrospective cross-sectional study included 140 children (73 females, 67 males) with FMF, aged 8-18 years, followed between 2019 and 2024. Clinical records were reviewed to extract anthropometric, pubertal, and genetic data. Pubertal timing was assessed by Tanner staging and compared with national reference data, and growth outcomes were evaluated by comparing final height (FH) to target height (TH). MEFV gene mutations were analyzed, focusing on the M694V variant.

resultsPubertal onset occurred at similar ages to healthy peers in both sexes. However, completion of puberty tended to occur at later ages in FMF patients (p < 0.001), particularly in males. Menarche age in females was not significantly different from reference data. Among those who reached FH, 83.3% of females and 91.7% of males achieved or exceeded their TH. No association was found between age at diagnosis and pubertal timing. Males carrying the M694V variant entered puberty earlier than non-carriers (p = 0.013), while no consistent pattern was observed in females.

conclusionDespite later completion of puberty, children with FMF exhibited largely preserved growth under regular colchicine therapy. These preliminary findings highlight the importance of monitoring pubertal progression in FMF and suggest that effective disease control supports favorable developmental outcomes. WHAT IS KNOWN: • Familial Mediterranean fever (FMF) is the most common childhood autoinflammatory disease. • Colchicine therapy preserves linear growth in most patients, but its effect on puberty has not been systematically studied. WHAT IS NEW: • Pubertal onset appeared normal, but pubertal progression may be slower in FMF, especially in males, while final height is largely preserved under colchicine therapy.