{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T13:20:28Z","timestamp":1794057628599,"version":"4.8.0"},"reference-count":37,"publisher":"The Endocrine Society","issue":"1","license":[{"start":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T00:00:00Z","timestamp":1748304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001826","name":"Netherlands Organisation for Health Research and Development","doi-asserted-by":"publisher","award":["113303005"],"award-info":[{"award-number":["113303005"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011756","name":"Sherman Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011756","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Eurostars program","award":["E113377"],"award-info":[{"award-number":["E113377"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Monocarboxylate transporter (MCT) 8 facilitates thyroid hormone (TH) transport across the blood-brain barrier. Pathogenic variants in SLC16A2 cause MCT8 deficiency (Allan-Herndon-Dudley syndrome), characterized by intellectual and motor disability and abnormal thyroid function tests. MCT8 deficiency typically affects males due to its X-linked inheritance.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Here, we report 8 female patients with heterozygous pathogenic variants in SLC16A2 who presented with variable neurocognitive impairment, behavioral problems, and TH function abnormalities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed X-chromosome inactivation studies in female patients in whom heterozygous pathogenic variants in SLC16A2 were identified. The effect of SLC16A2 variants on TH transport was assessed in transfected cells and patient-derived fibroblasts.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>In all patients (mean age 8.6 years; range, 2.3-25 years) routine care genetic analyses identified heterozygous variants in SLC16A2 (p.(R445C), p.(N193I), p.(G276R), t(X;20), resulting in a breakpoint in intron 1, t(X;19), resulting in a breakpoint in SLC16A2, p.(I562Sfs566*), p.(G221R)). All missense variants showed substantially reduced MCT8-mediated TH uptake in transiently transfected cells. X-chromosome inactivation studies in patient cells showed skewed X-inactivation in all 7 evaluated individuals. In 5 out of 7 evaluated cases, MCT8-mediated 3,5,3\u2032-triiodothyronine (T3) uptake in patient-derived fibroblasts was impaired to a similar degree as in fibroblasts derived from male patients with MCT8 deficiency.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgaf311","type":"journal-article","created":{"date-parts":[[2025,5,25]],"date-time":"2025-05-25T07:32:15Z","timestamp":1748158335000},"page":"e175-e184","source":"Crossref","is-referenced-by-count":10,"title":["MCT8 Deficiency in Females"],"prefix":"10.1210","volume":"111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6879-7392","authenticated-orcid":false,"given":"Stefan","family":"Groeneweg","sequence":"first","affiliation":[{"name":"Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University Rotterdam , 3015 GD Rotterdam ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6960-5775","authenticated-orcid":false,"given":"Ferdy S","family":"van Geest","sequence":"additional","affiliation":[{"name":"Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University Rotterdam , 3015 GD Rotterdam ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-6727-3432","authenticated-orcid":false,"given":"Floor","family":"van der Most","sequence":"additional","affiliation":[{"name":"Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University Rotterdam , 3015 GD Rotterdam ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8328-5042","authenticated-orcid":false,"given":"Lucia","family":"Abela","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Universit\u00e4ts\u2013Kinderspital Z\u00fcrich , 8008 Zurich ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2197-9417","authenticated-orcid":false,"given":"Paolo","family":"Alfieri","sequence":"additional","affiliation":[{"name":"Unit of Child Neuropsychiatry, Department of Neurosciences, Bambino Ges\u00f9 Children's Hospital, IRCCS , 00165 Rome ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J","family":"Bauer","sequence":"additional","affiliation":[{"name":"The Thyroid Center, Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Department of Paediatrics, The University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9276-4590","authenticated-orcid":false,"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Ges\u00f9 Children's Hospital, IRCCS , 00165 Rome ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5647-7519","authenticated-orcid":false,"given":"Marco","family":"Cappa","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Ges\u00f9 Children's Hospital, IRCCS , 00165 Rome ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1583-6807","authenticated-orcid":false,"given":"Nurullah","family":"\u00c7elik","sequence":"additional","affiliation":[{"name":"Division of Paediatric Endocrinology, Department of Child Health and Diseases, Sivas Cumhuriyet University Faculty of Medicine , 58140 Sivas ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0533-7422","authenticated-orcid":false,"given":"Irenaeus F M","family":"de Coo","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Erasmus Medical Center, Erasmus University Rotterdam , 3015 GD Rotterdam ,","place":["the Netherlands"]},{"name":"Mental Health and Neuroscience Research Institute, Department Translational Genomics, Maastricht University Medical Centre , 6229 ET Maastricht ,","place":["the 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,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4243-204X","authenticated-orcid":false,"given":"Jorge L","family":"Granadillo","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine , St Louis, MO 63110 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-3444-9955","authenticated-orcid":false,"given":"Lies H","family":"Hoefsloot","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus Medical Center, Erasmus University Rotterdam , 3015 GD Rotterdam ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6898-3259","authenticated-orcid":false,"given":"Vera M","family":"Kalscheuer","sequence":"additional","affiliation":[{"name":"Research Group Development 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