title: Turner syndrome: four challenges across the lifespan.
abstract: Turner syndrome (TS) is a sex chromosome condition that occurs in approximately 1/2,500 live female births. Despite the prevalence of this chromosomal condition, the challenges these women face throughout their lives are not fully understood. This qualitative research study aimed to characterize the subjective experiences of individuals with TS throughout their lifespan, to investigate their concerns and obstacles, and to offer insight into the strengths and weaknesses of health care delivery, as they perceived them. Ninety-seven girls and women with TS and 21 parents consented to participate in this interview study. Interviews were semi-structured and open-ended in design. Questions sought to elicit responses relating to existing concerns associated with their condition and positive and negative health care experiences. Participants were divided into four age categories (childhood, adolescence, adulthood, and mature adulthood) to facilitate a comparative analysis across the age spectrum. Regardless of age, infertility was the most frequently cited concern followed closely by short stature. Sexual development and function and general health were also viewed as challenges by a number of participants in each age group. Although the relative weight of these four concerns tended to shift based upon the individual's age and life experiences, all four issues remained significant throughout the lifespan. Enhanced awareness of the evolving physical and psychological challenges faced by girls and women with TS may help health care providers (HCPs) improve the quality of life for these individuals.
authors.affiliation: National Human Genome Research Institute, NIH, Bethesda, Maryland 20892-1852, USA.
authors.forename: Erica J
authors.initials: EJ
authors.lastname: Sutton
authors.forename: Aideen
authors.initials: A
authors.lastname: McInerney-Leo
authors.forename: Carolyn A
authors.initials: CA
authors.lastname: Bondy
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Gollust
authors.forename: Donnice
authors.initials: D
authors.lastname: King
authors.forename: Barbara
authors.initials: B
authors.lastname: Biesecker
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D007407:Interviews as Topic; D007621:Karyotyping; D008875:Middle Aged; D036301:Qualitative Research; D012959:Socioeconomic Factors; D014424:Turner Syndrome / Q000503:physiopathology* / Q000523:psychology