Turner’s Syndrome in Adulthood

Abstract

Turner's syndrome is the most common chromosomal abnormality in females, affecting 1:2,500 live female births. It is a result of absence of an X chromosome or the presence of a structurally abnormal X chromosome. Its most consistent clinical features are short stature and ovarian failure. However, it is becoming increasingly evident that adults with Turner's syndrome are also susceptible to a range of disorders, including osteoporosis, hypothyroidism, and renal and gastrointestinal disease. Women with Turner's syndrome have a reduced life expectancy, and recent evidence suggests that this is due to an increased risk of aortic dissection and ischemic heart disease. Up until recently, women with Turner's syndrome did not have access to focused health care, and thus quality of life was reduced in a significant number of women. All adults with Turner's syndrome should therefore be followed up by a multidisciplinary team to improve life expectancy and reduce morbidity.

Turner syndrome: Four challenges across the lifespan

“…Ignoring strategies were cited by a number of participants as their preferred coping mechanism. Rickert and colleagues argue, however, that adopting ignoring tactics might not be the best response, as this method teaches children, who in many cases already lack assertiveness and social skills [Skuse 1987;Siegel et al 1998;Ross 2001;Sybert 2001;Elsheikh et al 2002;Frias and Davenport 2003], to walk away from confrontation and isolate themselves further from their classmates to avoid being teased [Rickert et al 1996]. The girls in our study who seemed unprovoked by their peers' efforts to hurt their feelings were the ones aware that they might be the target of hurtful words and were equipped with quick comebacks for each situation.…”

“…Since androgens appear to be important for libido and sexual satisfaction in women [Sherwin and Gelfand 1987;Goldstat et al 2003], this relative androgen deficiency may also contribute to impaired sexuality in women with TS. Health care providers are becoming increasingly aware of the various psychosocial challenges faced by girls and women with TS [Saenger 1996;Rosenfeld 2000;Ross 2001;Sas and de Muinck Keizer-Schrama 2001;Elsheikh et al 2002;Frias and Davenport 2003]. Parents and HCPs need to remain vigilant in monitoring their daughters and patients respectively, and provide the means through which girls may acquire the necessary skills to enter adulthood as confident, self-assured women.…”

“…Some individuals with TS have a mosaic 46,XX/45,X (or less frequently 45,X/46,XY) karyotype, and others demonstrate the phenotype due to a major X-chromosome deletion (46,X del (X)). Physical features associated with a TS karyotype may include: ovarian failure with associated infertility, short stature, cardiovascular and renal malformations, hypertension, diabetes, hearing loss, skeletal abnormalities and neck webbing [Lippe 1991;Sybert 2001;Cunniff 2002;Elsheikh et al 2002]. Girls and women with TS generally have a normal range of cognitive abilities but may have learning difficulties, particularly related to nonverbal skills such as visual-spatial abilities, motor coordination, and mathematics [Skuse 1987;Sylven et al 1993;Saenger 1996;Lagrou et al 1998;van Borsel et al 1999;McCauley et al 2001;Ross 2001;Sybert 2001;Elsheikh et al 2002;Frias and Davenport, 2003].…”

“…A number of studies on Turner syndrome provide recommendations to health care providers on how to improve the overall physical and psychological health of girls and women with TS [Rieser 1992;Sylven et al 1993;Saenger 1996;Rosenfeld 2000;Savendahl and Davenport 2000;Elsheikh et al 2002;Frias and Davenport 2003]. Published timelines for administering various tests and explanations of symptoms and complications of TS serve as references for health care providers [Sylven et al 1993;Saenger 1996;Savendahl and Davenport 2000;Ross 2001;Sas and de Muinck Keizer-Schrama 2001;Cunniff 2002;Elsheikh et al 2002;Frias and Davenport 2003].…”

“…Published timelines for administering various tests and explanations of symptoms and complications of TS serve as references for health care providers [Sylven et al 1993;Saenger 1996;Savendahl and Davenport 2000;Ross 2001;Sas and de Muinck Keizer-Schrama 2001;Cunniff 2002;Elsheikh et al 2002;Frias and Davenport 2003]. Although general information addressing future health concerns of women with TS exists, such as osteoporosis, hearing loss, and cardiovascular disease, the majority of women with TS are not monitored adequately for these late-onset diseases and conditions [Ross 2001;Elsheikh et al 2002].…”