Endocrine Clinic for Children and Carriers with Fragile X Syndrome

Our service offers a comprehensive solution for addressing endocrine challenges in children with fragile X syndrome (FXS) and FXS carriers. The clinic addresses various concerns including growth, sexual maturation, menstrual irregularities, thyroid disorders, and metabolic aspects like lipid profile disorders, hypertension, obesity, and more. Treatment is made in collaboration with the Child Development Institute, a fertility clinic in the IVF unit, the Genetics Institute and the Movement Disorders Institute.

Fragile X syndrome is actually the most common known cause of developmental intellectual disability and autism spectrum disorder based on heredity. The condition arises when there are more than 200 copies or repeats of CGG in the FMR1 (Fragile X Mental Retardation 1) gene located on the X chromosome.

FXS carriers (individuals with 58-199 copies of CGG) also have important health implications that require early detection and follow-up. These may involve fertility challenges, learning difficulties, movement disorders, as well as endocrine and metabolic disorders.