Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2025) 110 P811 | DOI: 10.1530/endoabs.110.P811

ECEESPE2025 Poster Presentations Multisystem Endocrine Disorders (43 abstracts)

Case-based rare disease CME significantly improves competence in diagnosing mct8 deficiency in pediatric/endocrinology practice

S Christy Rohani-Montez 1 , Megan Breuer 1 , Grace O’Malley 1 , Margaux LeBerre 1 , Davide Tonduti 2 & Andrew Bauer 3


1Medscape Education Global, London, United Kingdom; 2COALA (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, V. Buzzi Children’s Hospital, University of Milan, Department of Biomedical and Clinical Sciences, Milan, Italy; 3Children’s Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, United States


JOINT701

Background: A diagnosis of MCT8 deficiency is easily missed in paediatric/endocrinology practice due to poor familiarity with this rare disease and failure to order or adequately interpret thyroid function tests for babies with hypotonia, missed motor milestones and/or other red flags. Thyroid hormone analysis is a key step in diagnosis but often missed. To increase the recognition and diagnosis of patients presenting with potential MCT8 deficiency, we developed a CME-accredited interactive online case-based educational activity featuring 2 cases for learners to diagnose.

Methods: Physicians worked through 2 cases, answering questions along the way with evidence-based feedback regarding correct responses.1 The education effects were assessed using a 3-question, repeated pairs, pre-assessment/post-assessment study design. One question assessed confidence. Differences from pre- to post-assessment were evaluated using McNemar’s test. The activity launched in February 2024 and data were collected through mid-January 2024.

Results: 1,816 endocrinologists and paediatricians participated in the education, with 983 completing both cases and all pre- and post-assessment questions. Significant improvements were seen, with 22/62 (35%) endocrinologists having correct responses at baseline, improving to 48/62 (77%) post case completion (P <.001). The corresponding figures for paediatricians were 276/921 (30%) pre-assessment vs 792/921 (86%) at post-assessment (P <.001). In particular, significant improvements were observed in physicians’ ability to differentiate MCT8 deficiency from a condition with a similar presentation and select the right diagnostic tests, as well as in their knowledge of the burden of MCT8 deficiency for patients and their families. After participating in the activity, 55% of endocrinologists and 60% of paediatricians had measurable improved confidence in their ability to diagnose MCT8 deficiency.

Conclusions: This study demonstrates the success of online, interactive case-based education in improving clinicians’ competence in diagnosing MCT8 deficiency.

References: 1. Tonduti D, Bauer A. Hypotonia and Failure to Thrive: What’s Your Next Step? Launched: February 2024. Supported by an education grant from Egetis Therapeutics Global. Available at www.medscape.org/viewarticle/hypotonia-and-failure-thrive-whats-your-next-step-2023a1000x81.

Volume 110

Joint Congress of the European Society for Paediatric Endocrinology (ESPE) and the European Society of Endocrinology (ESE) 2025: Connecting Endocrinology Across the Life Course

European Society of Endocrinology 
European Society for Paediatric Endocrinology 

Browse other volumes

Article tools

My recent searches

No recent searches