Purpose of review: To review the recent literature on fragile X and the genotypic and phenotypic implications on human reproduction.
Recent findings: Fragile X syndrome is the most common inherited cause of mental retardation and the most common genetic cause of autism. The fully expanded form of the mutation leads to mental retardation and autism, whereas the premutation can lead to a neurological disorder called fragile X-associated tremor/ataxia, macroorchidism after puberty and premature ovarian failure. Fragile X is also a major cause of premature ovarian failure and irregular menses, and it can subsequently affect fertility. Couples who carry the premutation or full mutation should be offered genetic and preconceptual counseling prior to attempting to conceive. This allows the patient full disclosure about the risks of transmitting the mutation and possible preventive measures, which allows them to formulate educated decisions about their reproductive future.
Summary: Clinicians should identify and recognize clinical situations that warrant fragile X testing to properly counsel and inform patients about their reproductive possibilities and ways to increase their chances of a successful reproductive outcome.