Abstract

Turner syndrome (TS) is a sex chromosome aneuploidy that occurs as a result of a non-disjunctional error in meiosis I or anaphase lag; however, the aetiology of this disorder remains unknown. Anecdotal evidence suggests that paternal alcoholism may play an unidentified role in the aetiology of TS. Accordingly, the primary objective of this study was to determine the potential association between paternal alcohol exposure and TS. The questionnaire was designed to solicit information about the parents' health and lifestyle habits occurring 1 year prior to and throughout the pregnancy of their daughter with TS. Alcohol dependence was assessed by the Brief Michigan Alcohol Screening Test (BMAST). The study population was solicited from the Turner's Syndrome Society of Canada and included any parent(s) having a child with TS who was of any age. Two hundred and twelve families completed and returned the survey. This provided a response rate of 86.5%. Six of the fathers (3.6%; n = 166) and six of the mothers (3.6%; n = 165) had scores of 5 or more on the BMAST (scores of 5+ are considered to be in the 'alcoholic range'). This is considerably lower than the population norm of 9.5%. Our study has suggested there is no association between paternal or maternal alcohol consumption and TS.

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