MCT8 Deficiency in Females
Female patients with heterozygous pathogenic variants in SLC16A2 and skewed X-chromosome inactivation may present with variable neuro(psycho)logical, behavioral, and thyroid function test abnormalities. Female patients presenting with neurocognitive impairment and abnormal TH function tests (low free thyroxine and/or high total T3 concentrations) should be tested for genetic variants in SLC16A2.
Authors
- Nina‐Maria Wilpert (ORCID: https://orcid.org/0000-0001-9453-8335)
- Ginevra Zanni (ORCID: https://orcid.org/0000-0002-6367-1843)
- Anna Dolcetta‐Capuzzo
- Vera M. Kalscheuer (ORCID: https://orcid.org/0000-0001-6898-3259)
- A S Paul van Trotsenburg (ORCID: https://orcid.org/0000-0002-9677-7441)
- Marco Cappa (ORCID: https://orcid.org/0000-0001-5647-7519)
- Ferdy S. van Geest (ORCID: https://orcid.org/0000-0002-6960-5775)
- Floor van der Most (ORCID: https://orcid.org/0009-0007-6727-3432)
- W. Edward Visser (ORCID: https://orcid.org/0000-0002-5248-863X)
- Stefan Groeneweg (ORCID: https://orcid.org/0000-0001-6879-7392)
- Ilja Dubinski (ORCID: https://orcid.org/0000-0003-3670-2453)
- Markus Schuelke (ORCID: https://orcid.org/0000-0003-2824-3891)
- Ulrich Schweizer (ORCID: https://orcid.org/0000-0003-1380-4780)
- Andrew J. Bauer (ORCID: https://orcid.org/0000-0002-3952-881X)
- Laura J. C. M. van Zutven (ORCID: https://orcid.org/0000-0002-1092-2610)
- Paolo Alfieri (ORCID: https://orcid.org/0000-0003-2197-9417)
- Enrico Bertini (ORCID: https://orcid.org/0000-0001-9276-4590)
- Lucia Abela (ORCID: https://orcid.org/0000-0002-8328-5042)
- Jorge L. Granadillo (ORCID: https://orcid.org/0000-0003-4243-204X)
- Nurullah Çelik (ORCID: https://orcid.org/0000-0003-1583-6807)
- Robin Patrick Peeters (ORCID: https://orcid.org/0000-0001-7732-9371)
- Kyle P. McNerney (ORCID: https://orcid.org/0000-0003-2874-1014)
- Jennifer Sprague (ORCID: https://orcid.org/0000-0003-1315-5119)
- Heiko Krude (ORCID: https://orcid.org/0000-0002-1169-0348)
- I.F.M. de Coo (ORCID: https://orcid.org/0000-0003-0533-7422)
- Marieke M van der Knoop (ORCID: https://orcid.org/0000-0002-8721-6300)
- Laura Paone
- Catherine Peters
- Lies H. Hoefsloot (ORCID: https://orcid.org/0009-0000-3444-9955)
Institutions
- Sivas Cumhuriyet Üniversitesi (TR)
- Children's Hospital of Philadelphia (US)
- University of Bonn (DE)
- Vita-Salute San Raffaele University (IT)
- University of Zurich (CH)
- Washington University in St. Louis (US)
- Great Ormond Street Hospital (GB)
- Maastricht University Medical Centre (NL)
- Erasmus MC (NL)
- San Raffaele University of Rome (IT)
- LMU Klinikum (DE)
- Maastricht University (NL)
- Emma Kinderziekenhuis (NL)
- Center for Pediatric Endocrinology Zurich (CH)
- Bambino Gesù Children's Hospital (IT)
- University Children's Hospital Zurich (CH)
- Berlin Institute of Health at Charité - Universitätsmedizin Berlin (DE)
- Max Planck Institute for Molecular Genetics (DE)
- Mylan (Switzerland) (CH)
- GGD Amsterdam (NL)
- Amsterdam University Medical Centers (NL)
- Ostschweizer Kinderspital (CH)
- University College London (GB)
- Charité - Universitätsmedizin Berlin (DE)
- University of Pennsylvania (US)
- Ludwig-Maximilians-Universität München (DE)
- University of Amsterdam (NL)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-05-25
- DOI
- https://doi.org/10.1210/clinem/dgaf311
- Citations
- 4
- Primary Topic
- Thyroid Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 5.18
Funders
- Sherman Fairchild Foundation
- ZonMw
- Eurostars