Turner Syndrome: The Patients's View

Objective: To identify how patients with Turner syndrome perceive their condition. Methods: Thirty-six women with Turner syndrome, aged between 15 and 25 years and with over 2 years of medical follow-up, were individually interviewed about: the impact of Turner syndrome at the moment of the diagnosis, their understanding of the syndrome, its effect in their lives, and their expectations for the future. Results: Only 31% of the patients immediately understood the diagnosis. Their feelings associated to that moment were neutral (47%) or concerned (33%). About one third of the interviewed women were unable to explain the etiology of Turner syndrome (42%), did not relate their symptoms with Turner syndrome (36%), and/or believe there might be a cure for it (44%). Although most of the interviewed women affirm that the syndrome has no interference in their lives (67%) and that they consider themselves happy persons (78%), in more than half of the interviews there are evidences of difficulties in social interaction and love relationship, low self-esteem, dissatisfaction with their physical appearances, especially the short stature and infertility. Their hopes for the future refer mainly to study and have a job. Although being, on average, 19 years old, one in two women (53%) still hopes to grow up. Conclusion: Besides medical treatment, it is important that the knowledge of the patients about the syndrome and some issues as infertility, short stature, self-esteem and social interactions receive proper and continuous attention from the moment of the diagnosis. The ideal situation should be a joint-action of a psychologist and the medical team. Copyright © 2004 by Sociedade Brasileira de Pediatria.804309314Nielsen, J., Wohlert, M., Chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark (1991) Hum Genet, 87, pp. 81-83Lippe, B., Turner Syndrome (1996) Pediatric Endocrinology, pp. 387-421. , Serling MA, editor. Philadelphia: W. B. Saunders CoHall, J.G., Gilchrist, D.M., Turner syndrome and its variants (1990) Pediatr Clin North Am, 37, pp. 1421-1440Massa, G.G., Vanderschueren-Lodeweyckx, M., Age and height at diagnosis in Turner syndrome: Influence of paternal height (1991) Pediatrics, 88, pp. 1148-1152Pasquino, A.M., Passeri, F., Pucarelli, I., Segni, M., Municchi, G., Spontaneous pubertal development in Turner's syndrome (1997) J Clin Endocrinol Metab, 82, pp. 1810-1813. , Italian study group for Turner's syndromeNielsen, J., Nyborg, H., Dahl, G., (1977) Acta Jutlandica XLV Medicine Series 21, , Arhus, DenmarkSkuse, D., Percy, E., Stevenson, J., Psychosocial functioning in the Turner syndrome: A national survey (1994) Growth, Stature and Adaptation. Behavioral, Social and Cognitive Aspects of Growth Delay, pp. 15-64. , Stabler B, Underwood L, editors. Chapel Hill: The University of North CarolinaBoman, U.W., Möller, A., Albertsson-Wikland, K., Self-perception, behavior and social functioning in Swedish girls with Turner syndrome: A population-based study (2000) Göteborg Psychological Reports, 30 (5), pp. 1-12. , Göteborg University SwedenMcCauley, E., Feuillan, P., Kushner, H., Ross, J.L., Psychosocial development in adolescents with Turner syndrome (2001) J Dev Behav Pediatr, 22, pp. 360-365Brinch, M., Manthorpe, T., Short stature as a possible etiological factor in anorexia nervosa (1987) Acta Psychiatr Scand, 76, pp. 328-332Massa, G.G., Vanderschueren-Lodeweyckx, M., Malvaux, P., Linear growth in patients with Turner Syndrome: Influence of spontaneous puberty and parental height (1990) Eur J Pediatr, 149, pp. 246-250Huisman, J., Slijper, F.M.E., Sinnema, G., Akkerhuis, G.W., Brugman-Boezeman, A.T.M., Feenstra, J., Psychosocial functioning and effects of growth hormone treatment in Turner syndrome (1993) Basic and Clinical Approach to Turner Syndrome, pp. 157-161. , Hibi I, Takano K, editors. Amsterdam: Elsevier Science PublishersWilson, D.M., McCauley, E., Brown, D.R., Dudley, R., Oxandrolone therapy in constitutionally delayed growth and puberty (1995) Pediatrics, 96, pp. 1095-1100Gilmour, J., Skuse, D., Short stature - The role of intelligence in psychosocial adjustment (1996) Arch Dis Child, 75, pp. 25-31McCauley, E., Ito, J., Kay, T., Psychosocial functioning in girls with Turner's syndrome and short stature: Social skills, behavior problems, and self-concept (1986) J Am Acad Child Psychiatry, 25, pp. 105-112McCauley, E., Ross, J.L., Kushner, H., Cutler Jr., G., Self-esteem and behavior in girls with Turner syndrome (1995) J Dev Behav Pediatr, 16, pp. 82-88Swillen, A., Fryns, J.P., Kleczkowska, A., Massa, G., Vanderschueren-Lodeweyckx, M., Van Den Berghe, H., Intelligence, behavior and psychological development in Turner syndrome (1993) Genet Couns, 4, pp. 7-18McCauley, E., Sybert, V., Ehrhardt, A.A., Psychosocial adjustment of adult women with Turner syndrome (1986) Clin Genet, 29, pp. 284-290Aran, O., Galatzer, A., Kauli, R., Nagelberg, N., Robicsek, Y., Laron, Z., Social, educational and vocational status of 48 young adult females with gonodal dysgenesis (1992) Clin Endocrinol, 36, pp. 405-410. , OxfNielsen, J., Sillesen, I., Turner's syndrome in 115 Danish girls born between 1955 and 1966 (1981) Acta Jutlandica LIV Medicine Series 22, , Aarhus, DenmarkNielsen, J., What more can be done for girls and women with Turner syndrome? (1993) Basical and Clinical Approach to Turner Syndrome, pp. 169-176. , Hibi I, Takano K, editors. Amsterdam: Excerpta MedicaDowney, J., Ehrhardt, A.A., Gruen, R., Bell, J.J., Morishima, A., Psychopatology and social functioning in women with Turner syndrome (1989) J Nerv Ment Dis, 177, pp. 191-201Pavlidis, K., McCauley, E., Sybert, V., Psychosocial and sexual functioning in women with Turner syndrome (1995) Clin Genet, 47, pp. 85-89Berch, D., McCauley, E., Psychosocial functioning of individuals with sex chromosome abnormalities (1990) Psychoneuroendocrinology. Brain, Behavior and Hormonal Interactions, pp. 164-183. , Holmes C, editor. New York: Springer-VerlagRaboch, J., Kobilkova, J., Horejsi, J., Starka, L., Raboch, J., Sexual development and life of women with gonodal dysgenesis (1987) J Sex Marital Ther, 13, pp. 117-127Tang, G., Bio-psycho-social aspects of gonodal dysgenesis (1989) J Psychosom Obstet Gynecol, 10, pp. 113-119Holl, R.W., Kunze, D., Etzrodt, H., Teller, W., Heinze, E., Turner syndrome: Final height, glucose tolerance, bone density and psychosocial status in 25 adult patients (1994) Eur J Pediatr, 153, pp. 11-16Tesch, L.G., Benefits of support groups for those affected by Turner Syndrome and the associated medical community (1993) Basic and Clinical Approach to Turner Syndrome, pp. 185-192. , Hibi I, Takano K, editors. Amsterdam: Elsevier Science PublishersSylven, L., Magnusson, C., Hagenfeldt, K., Von Schoultz, B., Life with Turner syndrome: A psychosocial report from 22 middle-aged women (1993) Acta Endocrinol, 129, pp. 188-194. , Copen