Consensus
Gestione della sindrome di Turner in età pediatrica
e durante la vita adulta
CARE OF GIRLS AND WOMEN WITH TURNER SYNDROME
RITA SALOMONE, FRANCESCO CHIARELLI*
Clinica Pediatrica, Università di Chieti
*Segretario Generale Società Europea di Endocrinologia Pediatrica (ESPE)
Marzo 2008 - pagg. 157 -165
Abstract
This consensus statement arose from an interdisciplinary meeting of geneticists, paediatricians,
cardiologists, internists, behavioural health specialists, and gynaecologists involved
in the care of and clinical research on patients with Turner Syndrome (TS). The goal
was to address new information and experience that have accrued in the last few years since
the latest international workshop on practical implications for the diagnosis and care
of persons with TS. An expanded view of congenital cardiovascular disease in TS led to
the recommendation of diagnostic cardiovascular magnetic resonance imaging (MRI)
study for all patients and increased focus on regular monitoring of systemic blood pressure
and aortic diameter in children and adults. GH treatment has now been proven to increase
adult height, although it has not been proven that this effect confers an advantage
to adults with TS. Since growth appears to continue with the gradual introduction of oestradiol,
pubertal development generally should not be delayed to further increase adult
height. There are many questions that remain unanswered regarding care for girls and women
with TS, such as identifying the optimal age of initiation and duration of GH treatment,
specific interventions for attention and perceptual deficits, the best method of ovarian hormone
replacement across lifespan, and the most effective monitoring for osteoporosis,
hypertension, diabetes, dyslipidemia and cardiovascular disease.
Parole chiave
Suggerite dall'AI
Classificazione MeSH
Bibliografia
• Baena N, De Vigan C, Cariati E, et al. Turner
syndrome: evaluation of prenatal diagnosis in
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A129:16-20.
• Bondy CA. Care of Girls and Women with Turner Syndrome. J Clin Endocrinol Metab 2007;92(1):10-25.
• Bondy CA, Lange E, Ceniceros I, Bakalov VK. Declining estrogen use in young women with Turner syndrome. Arch Intern Med 2006;166: 1322.
• Carel JC, Ecosse E, Bastie-Sigeac I, et al. Quality of life determinants in young women with Turner’s syndrome after growth hormone treatment: results of the statur population-based cohort study. J Clin Endocrinol Metab 2005;90:1992-7.
• Donaldson MDC, Gault EJ, Tan KW, Dunger DB. Optimising management in Turner syndrome: from infancy to adult transfer. Arch Dis Child 2006;91:513-20.
• Hamamy HA, Dahoun S. Parental decisions following the prenatal diagnosis of sex chromosome abnormalities. Eur J Obstet Gynecol Reprod 2004, Biol 116:58-62.
• Okada Y. The quality of life of Turner women in comparison with grown-up GH-deficient women. Endocr J 1994;41:345-54.
• The Canadian Growth Hormone Advisory Committee. Impact of growth hormone supplementation on adult height in Turner syndrome: results of the Canadian Randomized Controlled Trial. J Clin Endocrinol Metab 2005;90:3360-6.
• The Practice Committee of the American Society for Reproductive Medicine. Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Fertility and Sterility 2005;83:1074-5.
• Verlinde F, Massa G, Lagrou K, et al. and Belgian Study Group of Paediatric Endocrinology. Health and psychosocial status of patients with Turner syndrome after transition to adulthood: the Belgian experience. Horm Res 2004;62:161-7.
• Bondy CA. Care of Girls and Women with Turner Syndrome. J Clin Endocrinol Metab 2007;92(1):10-25.
• Bondy CA, Lange E, Ceniceros I, Bakalov VK. Declining estrogen use in young women with Turner syndrome. Arch Intern Med 2006;166: 1322.
• Carel JC, Ecosse E, Bastie-Sigeac I, et al. Quality of life determinants in young women with Turner’s syndrome after growth hormone treatment: results of the statur population-based cohort study. J Clin Endocrinol Metab 2005;90:1992-7.
• Donaldson MDC, Gault EJ, Tan KW, Dunger DB. Optimising management in Turner syndrome: from infancy to adult transfer. Arch Dis Child 2006;91:513-20.
• Hamamy HA, Dahoun S. Parental decisions following the prenatal diagnosis of sex chromosome abnormalities. Eur J Obstet Gynecol Reprod 2004, Biol 116:58-62.
• Okada Y. The quality of life of Turner women in comparison with grown-up GH-deficient women. Endocr J 1994;41:345-54.
• The Canadian Growth Hormone Advisory Committee. Impact of growth hormone supplementation on adult height in Turner syndrome: results of the Canadian Randomized Controlled Trial. J Clin Endocrinol Metab 2005;90:3360-6.
• The Practice Committee of the American Society for Reproductive Medicine. Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Fertility and Sterility 2005;83:1074-5.
• Verlinde F, Massa G, Lagrou K, et al. and Belgian Study Group of Paediatric Endocrinology. Health and psychosocial status of patients with Turner syndrome after transition to adulthood: the Belgian experience. Horm Res 2004;62:161-7.
Corrispondenza: chiarell@unich.it