Fragile X Syndrome: A Rare Case of a Female Carrier Exhibiting the Phenotypic Spectrum of Disease Features

Abstract

Fragile X Syndrome is an X-linked recessive mutation in the Fragile X Mental Retardation 1 (FMR1) gene that although more common in males, can affect females who act as carriers and present with less severe symptoms along a spectrum of phenotypes contingent on the number of CGG trinucleotide repeats. Although there are few studies on carriers in the literature, the ones present tend to showcase a minority of the potential presentations of this condition. Here we present a case of a carrier female diagnosed in her teenage years who exhibits a wide spectrum of disease manifestations, including depression, anxiety, addiction, anorexia, substance abuse and premature ovarian failure. Despite being lost to follow-up from her primary care provider and battling addiction, the patient was largely in normal health. This case demonstrates the importance of early diagnosis and intervention to prevent the associated disease manifestations and concurrent co-morbidities from worsening.