Endocrine Dysfunction in Female FMR1 Premutation Carriers: Characteristics and Association with Ill Health

Reproductive issues are prevalent in female fragile X premutation carriers (PMC). Other health difficulties, including endocrine dysfunction, have also been suggested to occur commonly. This paper investigated endocrine dysfunction in PMCs and its association with poorer health. A systematic review and pilot data from a semi- structured health questionnaire were used. Medline, Embase and PsycInfo were searched for papers concerning PMCs and endocrine problems. For the pilot study, health issues in females were compared between PMCs with endocrine difficulties (N=18), PMCs without endocrine difficulties (N=14) and individuals without the premutation (N=15). 28 papers were identified in the review; the majority concerned reproductive issues, but there was some evidence that thyroid dysfunction may occur more frequently in subgroups of PMCs and that those with endocrine difficulties have poorer health than those without. In the pilot study, PMCs with endocrine problems reported more health issues than either comparison group (p=0.04); specifically, fibromyalgia (p=0.03), tremor (p=0.03), headache (p=0.01) and obsessive compulsive disorder (p=0.009). Further larger scale research is warranted to determine whether female PMCs are at risk of endocrine disorders other than those associated with reproduction and whether endocrine dysfunction identifies a high risk group for the presence of other health conditions.