Related Experiment Video
Updated: Jan 7, 2026
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Growth and pubertal development in children with familial Mediterranean fever under colchicine therapy
Ozge Bayrak Demirel1, Selen Duygu Arik2, Tugce Kandemir3
1Department of Pediatrics, Pediatric Endocrinology Unit, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey. ozge.bayrakdemirel@istanbul.edu.tr.
Insights
Children with Familial Mediterranean Fever (FMF) experience delayed puberty completion but maintain normal final height, especially with colchicine therapy. Monitoring pubertal progression is key for favorable outcomes in pediatric FMF patients.
Area of Science:
- Pediatric Rheumatology
- Genetics
- Endocrinology
Background:
- Familial Mediterranean Fever (FMF) is the most prevalent hereditary autoinflammatory disease in children.
- Colchicine therapy is effective for linear growth but its impact on pubertal development in FMF requires further investigation.
- Limited data exists on the pubertal characteristics of children diagnosed with FMF.
Purpose of the Study:
- To evaluate growth and pubertal development in children with FMF.
- To compare pubertal timing and final height in FMF patients against national reference data.
- To explore potential associations between MEFV gene variants and pubertal characteristics.
Main Methods:
- Retrospective cross-sectional study of 140 children (8-18 years) with FMF.
- Analysis of anthropometric, pubertal (Tanner staging), and genetic data (MEFV gene mutations).
- Comparison of patient data with national reference standards for pubertal timing and final height (FH) versus target height (TH).
Main Results:
- Pubertal onset was similar to healthy peers; however, puberty completion was delayed, particularly in males.
- Final height was largely preserved, with 83.3% of females and 91.7% of males reaching or exceeding their target height.
- Males with the M694V variant showed earlier pubertal onset compared to non-carriers.
Conclusions:
- Children with FMF demonstrate largely preserved growth and final height despite delayed puberty completion, particularly when managed with colchicine therapy.
- Regular monitoring of pubertal progression is crucial for children with FMF.
- Effective disease management in FMF supports positive developmental trajectories.
Purpose:
Familial 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.
Methods:
This 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.
Results:
Pubertal 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.
Conclusion:
Despite 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.
Related Concept Videos
01:24Pharmacokinetics in Pediatric Patients: Drug Metabolism
01:29Therapeutic Drug Monitoring: Affecting Factors
01:30Inflammatory Bowel Disease II: Crohn's Disease
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
01:29Drugs for Treatment of Crohn's Disease in IBD Using Immunomodulatory Agents
01:29Drugs for Treatment of Ulcerative Colitis in IBD
01:17Gastritis-II: Pathophysiology
In acute gastritis, the gastric mucosa becomes swollen and red and undergoes superficial erosion. Superficial ulceration may lead to bleeding.
In chronic gastritis, persistent or repeated insults lead to chronic inflammatory changes and, eventually, thinning or atrophy of the gastric tissue.
Gastritis can stem from various causes, each...