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Multicenter Study
. 2023 Jul 25:14:1190670.
doi: 10.3389/fendo.2023.1190670. eCollection 2023.

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

Jenny Lam  1 , Sophie Stoppa-Vaucher  2   3 , Maria Cristina Antoniou  3 , Thérèse Bouthors  3 , Inge Ruiz  3 , Nicole Sekarski  4 , Tobias Rutz  5 , Sophie Fries  6 , Pierre Alain Binz  7 , Florence Niel Bütschi  8 , Nicolas Vulliemoz  9 , Aneta Gawlik  10 , Nelly Pitteloud  1   11 , Michael Hauschild  1   3 , Kanetee Busiah  1   3
Affiliations
Multicenter Study

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

Jenny Lam et al. Front Endocrinol (Lausanne). .

Abstract

Introduction: 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.

Methods: In this multicenter retrospective descriptive cohort study, we collected growth and pubertal parameters, associated comorbidities, treatment, and karyotype in patients diagnosed at age <18 years between 1993 and 2022. We assessed age-appropriate recommendation follow-up (children, adolescents and adults) according to the 2007 guidelines if the last visit was before 2017 (18 recommendations) and the 2017 guidelines if the last visit was after 2017 (19 recommendations).

Results: We included 68 patients followed at Lausanne University Hospital (n=64) and at Neuchatel Regional Hospital (RHNe) (n=4). 2.9% of patients underwent all recommended investigations.Overall, 68.9 ± 22.5% and 78.5 ± 20.6% of the recommendations were followed, before and after 2017 respectively. High implementation rates were found for height, weight and BMI (100%), cardiac (80 to 100%) and renal (90 to 100%) imaging. Low implementation rates were found for Ear, Nose and Throat (ENT) (56.5%), skin (38.5%), dental (23.1%), ophthalmological (10%) and cholestasis (0 to 29%) assessments, depending on age and time of visit. In adults (n=33), the mean proportion of followed recommendations was lower before than after 2017: 63.5 ± 25.8% vs. 78.7 ± 23.4%, p=0.039.

Conclusion: Growth parameters, cardiac and renal imaging are well followed. However, efforts should be made for dental, ENT, ophthalmological, skin and cholestasis assessments. Adequacy of follow-up improved with the quality of transition to adult care.

Keywords: Turner syndrome; care coordination; comorbidities; follow-up; international guidelines; recommendations; transition.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Patient flow chart. *Age at last visit: £Girls with a Tanner S2 stage or above (spontaneously or with estrogen therapy) and aged below 18 years old.
See this image and copyright information in PMC

References

    1. Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH. Turner syndrome: mechanisms and management. Nat Rev Endocrinol (2019) 15:601–14. doi: 10.1038/s41574-019-0224-4 - DOI - PubMed
    1. Bondy CA. Care of girls and women with turner syndrome: A guideline of the turner syndrome study group. J Clin Endocrinol Metab (2007) 92:10–25. doi: 10.1210/jc.2006-1374 - DOI - PubMed
    1. Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, et al. . Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol (2017) 177:G1–G70. doi: 10.1530/EJE-17-0430 - DOI - PubMed
    1. Le Bouc Y. Insulin-like growth factors (IGF) and their binding proteins (IGFBP). Physiological and pathological regulation. Journ Annu Diabetol Hotel Dieu (1995), 29–38. - PubMed
    1. Elmlinger MW, Kühnel W, Weber MM, Ranke MB. Reference ranges for two automated chemiluminescent assays for serum insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP-3). Clin Chem Lab Med CCLM (2004) 42:654–664. doi: 10.1515/CCLM.2004.112 - DOI - PubMed

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