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

Frontiers in Endocrinology

Endocrinology

Tobias Rutz¹  Nicolas Vulliemoz²  Pierre Alain Binz³  Sophie Stoppa-Vaucher⁴  Aneta Gawlik⁵  Jenny Lam⁶  Nelly Pitteloud⁷  Michael Hauschild⁸  Kanetee Busiah⁸  Florence Niel Bütschi⁹  Nicole Sekarski^1,10  Sophie Fries^1,11  Maria Cristina Antoniou^1,12  Inge Ruiz^1,12  Thérèse Bouthors^1,12 

[1]Cardiology Unit, Heart-Vessels Department, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland

[2]Centre de Procréation Médicalement Assistée (CPMA), Lausanne, Switzerland

[3]Clinical Chemistry Service, Laboratory Medicine and Pathology Department, Lausanne University Hospital, Lausanne, Switzerland

[4]Department of Pediatric, Neuchatel Regional Hospital, Neuchâtel, Switzerland

[5]Pediatric Endocrinology, Diabetology and Obesity Unit, Women-Mothers-Children Department, Lausanne University Hospital, Lausanne, Switzerland

[6]Department of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland

[7]Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland

[8]Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland

[9]Endocrinology, Diabetology and Obesity Unit, Medicine Department, Lausanne University Hospital, Lausanne, Switzerland

[10]Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland

[11]Pediatric Endocrinology, Diabetology and Obesity Unit, Women-Mothers-Children Department, Lausanne University Hospital, Lausanne, Switzerland

[12]Laboratory Medicine and Pathology Unit, Genetic Labs Department, Lausanne University Hospital, Lausanne, Switzerland

[13]Pediatric Cardiology Unit, Women-Mothers-Children Department, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland

[14]Pediatric Ear, Nose and Throat Unit, Surgery Department, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland

[15]Pediatric Endocrinology, Diabetology and Obesity Unit, Women-Mothers-Children Department, Lausanne University Hospital, Lausanne, Switzerland

关键词: Turner syndrome;    international guidelines;    follow-up;    transition;    recommendations;    care coordination;    comorbidities;   

DOI  :  10.3389/fendo.2023.1190670

 received in 2023-03-21, accepted in 2023-06-27,  发布年份 2023

来源: Frontiers

【 摘 要 】

IntroductionTurner 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.MethodsIn 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).ResultsWe 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.ConclusionGrowth 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.

【 授权许可】

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Copyright © 2023 Lam, Stoppa-Vaucher, Antoniou, Bouthors, Ruiz, Sekarski, Rutz, Fries, Binz, Bütschi, Vulliemoz, Gawlik, Pitteloud, Hauschild and Busiah