Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved

Turner syndrome association with multi-organ system comorbidities highlights the need for effective implementation of follow-up guidelines. We aimed to assess the adequacy of care with international guidelines published in 2007 and 2017 and to describe the phenotype of patients. In this multicenter...

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Published in:Frontiers in endocrinology (Lausanne) 2023-07, Vol.14, p.1190670-1190670
Main Authors: Lam, Jenny, Stoppa-Vaucher, Sophie, Antoniou, Maria Cristina, Bouthors, Thérèse, Ruiz, Inge, Sekarski, Nicole, Rutz, Tobias, Fries, Sophie, Binz, Pierre Alain, Bütschi, Florence Niel, Vulliemoz, Nicolas, Gawlik, Aneta, Pitteloud, Nelly, Hauschild, Michael, Busiah, Kanetee
Format: Article
Language:English
Subjects:
care coordination
Cholestasis
Cohort Studies
Endocrinology
follow-up
Humans
international guidelines
Liver
recommendations
Retrospective Studies
transition
Turner syndrome
Turner Syndrome - diagnosis
Turner Syndrome - genetics
Turner Syndrome - therapy
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Summary:Turner syndrome association with multi-organ system comorbidities highlights the need for effective implementation of follow-up guidelines. We aimed to assess the adequacy of care with international guidelines published in 2007 and 2017 and to describe the phenotype of patients. In this multicenter retrospective descriptive cohort study, we collected growth and pubertal parameters, associated comorbidities, treatment, and karyotype in patients diagnosed at age
ISSN:1664-2392
1664-2392
DOI:10.3389/fendo.2023.1190670