title: Poor socio-economic status in 47,XXX --an unexpected effect of an extra X chromosome.
abstract: One of the most common sex chromosomal abnormalities in females is 47,XXX syndrome, which is characterized by tall stature and reduced IQ, but with a variable phenotype. In order to elaborate on the characteristics of this syndrome, we undertook an investigation in all diagnosed 47,XXX females at risk in Denmark and compared their socio-economic status with an age-matched cohort of the female background population as well as with all Danes diagnosed with Turner syndrome. We focused on cohabitation, motherhoods, income, education, retirement and convictions. Furthermore, we investigated whether some of these parameters influenced the increased mortality identified previously. Thus, socio-economic data were retrieved in 108 47,XXX persons, 10,297 controls, and 831 with Turner syndrome. Comparing the 47,XXX persons with their controls, we identified significantly decreased numbers of first partnership, number of mothers, and number of persons with an education in 47,XXX persons. Significantly more 47,XXX persons retired. In the younger age groups an increased number had income below the median among controls. The increased mortality identified previously was not explained by the reduced number of partnerships or the reduced number of persons with an education. Comparing the 47,XXX persons with Turner syndrome persons, we identified increased number of first partnership, number of mothers, and reduced level of education. We hypothesize that the significantly decreased number of 47,XXX persons becoming mothers could be due to hypogonadism in some. The affected socio-economic status suggests that the presence of an extra X chromosome has more detrimental effects than previously appreciated.
authors.affiliation: Department of Internal Medicine and Endocrinology, Aarhus University Hospital, Aarhus, Denmark. stochholm@dadlnet.dk
authors.forename: Kirstine
authors.initials: K
authors.lastname: Stochholm
authors.forename: Svend
authors.initials: S
authors.lastname: Juul
authors.forename: Claus H
authors.initials: CH
authors.lastname: Gravholt
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D003718:Denmark / Q000453:epidemiology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008875:Middle Aged; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000453:epidemiology* / Q000401:mortality; D012923:Social Class; D012959:Socioeconomic Factors; D014314:Trisomy; D014424:Turner Syndrome / Q000453:epidemiology; D055815:Young Adult