Clinica Pediatrica, Università di Chieti
*Segretario Generale Società Europea di Endocrinologia Pediatrica (ESPE)
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Key words: Turner syndrome, Consensus statement, Diagnosis, Care
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.
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