DESCRIBING LYMPHEDEMA IN FEMALES WITH TURNER SYNDROME

Abstract

Turner syndrome (TS) is a chromosomalcondition affecting an estimated 1 in 2,500girls where the second X chromosome ismissing, or partially formed. This abnormalityaffects multiple body systems and can lead toshort stature, cardiac, neural, and renalabnormalities. Due to the chronic, non-lifethreatening nature of lymphedema incomparison to other symptoms of TS, it isoften ignored by girls and women with TS andtheir physicians. Consequently, little is knownabout how lymphedema affects girls andwomen with TS across the lifespan. Therefore,the objective of the study was to deliver anonline survey for females with TS andcaregivers in the US, UK, and Canada toprovide a worldwide perspective on theircurrent experience with lymphedema withinthe spectrum of TS. There were 219 participantswho completed the survey, and we wereable to identify incidence and characteristicsof lymphedema across the lifespan. Inaddition, we found that females with 45,Xkaryotyping were more likely to reportlymphedema symptoms. Lymphedema is notthe most significant concern of females withTS, but education, physician evaluation, andassistance with referrals for treatment andmanagement would improve the ease ofmanaging lymphedema in girls and womenwith TS.