Fragile X Syndrome
• Obesity in upto 60% of
cases
• 1/2,500 births X-linked
• FMR1 gene (Xq27.3)
• Intellectual disability,
hyperkinetic behavior,
macroorchidism, large ears,
prominent jaw
Benefits of Identifying Genetic Cause
• Families relieved to know cause, feel less blame
• Anticipatory guidance and screening
• Social support groups provide community
• Management of hyperphagia as a physiologic medical condition
• Distinct approach from traditional nutritional counseling for obesity
• Food dosed and timed similar to prescription medications
• In hypotonic conditions, 20% to 40% lower caloric needs due to decreased lean mass
• Growth hormone therapy approved for PWS – increases muscle mass and tone, reduces truncal
obesity, potential cognitive benefits when initiated early
• Genetic diagnosis o opportunity for targeted treatment
Styne DM, et al. J Clin Endocrinol Metab. 2017;102(3):709-57; Rubin DA, et al. Food Nutr Res. 2015;59:29427;
Goldstone AP, et al. .J Clin Endocrinol Metab. 2008;93(11):4183-97