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

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.

[Obesity in infancy: new precision treatment]. / Obésité infantile : nouveautés thérapeutiques ciblées.

Obesity is a chronical disease, which leads to multiple short- and long-term complications. 4% of Swiss children and adolescents are obese. A prompt diagnosis and multicomponent lifestyle intervention is mandatory to avoid persistence of the disease into adulthood. Growth and BMI charts are still the essential tools to diagnose and define the etiology of obesity. A precocious and severe obesity, accompanied by hyperphagia, will raise the suspicion of monogenic obesity. The precise molecular diagnosis enables in some patients the use of a specific treatment. Leptine in case of LEP gene defects, or setmelanotide when the affected gene is part of the MC4R signaling pathway (LEPR, POMC, PCSK1).

L'obésité est une maladie chronique, associée à de multiples complications à court et à long termes, présente chez 4 % des enfants et adolescents en Suisse. Un dépistage et une intervention multidisciplinaire précoces sont essentiels pour éviter la persistance de la maladie à l'âge adulte. Les courbes de croissance et de l'IMC sont les outils indispensables pour repérer la maladie et orienter l'étiologie. Ainsi, une obésité d'apparition précoce, de caractère sévère et accompagnée d'une hyperphagie oriente le clinicien vers le diagnostic d'obésité monogénique. Un diagnostic moléculaire précis permet de connaître le gène défectueux et offre, dans certains cas, un traitement ciblé très efficace pour le patient : la leptine en cas de mutation du gène LEP, ou le setmélanotide dans les défauts de la voie de signalisation du MC4R (LEPR, POMC, PCSK1).

High Prevalence of Hypovitaminosis D in Adolescents Attending a Reference Centre for the Treatment of Obesity in Switzerland.

Background: Hypovitaminosis D is common in populations with obesity. This study aimed at assessing (1) the prevalence of hypovitaminosis D and (2) the associations between vitamin D levels and cardiovascular risk factors in adolescents attending a reference centre for the treatment of obesity. Design: Cross-sectional pilot study conducted in the paediatric obesity unit of the Lausanne university hospital, Switzerland. Methods: Participants were considered eligible if they (1) were aged between 10 to 16.9 years and (2) consulted between 2017 and 2021. Participants were excluded if (1) they lacked vitamin D measurements or (2) the vitamin D measurement was performed one month after the base anthropometric assessment. Hypovitaminosis D was considered if the vitamin D level was <30 ng/mL (<75 nmol/L). Severe obesity was defined as a BMI z-score > 3 SD. Results: We included 52 adolescents (31% girls, mean age 13 ± 2 years, 33% with severe obesity). The prevalence of hypovitaminosis D was 87.5% in girls and 88.9% in boys. The vitamin D levels were inversely associated with BMI, Spearman r and 95% CI: −0.286 (−0.555; −0.017), p = 0.037; they were not associated with the BMI z-score: −0.052 (−0.327; 0.224), p = 0.713. The vitamin D levels were negatively associated with the parathormone levels (−0.353 (−0.667; −0.039), p = 0.028) and positively associated with the calcium levels (0.385 (0.061; 0.708), p = 0.020), while no association was found between vitamin D levels and blood pressure and lipid or glucose levels. Conclusion: almost 9 out of 10 adolescents with obesity in our cohort presented with hypovitaminosis D. Hypovitaminosis D does not seem to be associated with a higher cardiovascular risk profile in this group.