Allan W, Herndon CN, Dudley FC (1944) Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly. Am J Ment Defic 48:325–334

Google Scholar 

Friesema ECH, Grueters A, Biebermann H et al (2004) Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet Lond Engl 364:1435–1437. https://doi.org/10.1016/S0140-6736(04)17226-7

Article  CAS  Google Scholar 

Schwartz CE, May MM, Carpenter NJ et al (2005) Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet 77:41–53. https://doi.org/10.1086/431313

Article  CAS  PubMed  PubMed Central  Google Scholar 

van Geest FS, Gunhanlar N, Groeneweg S, Visser WE (2021) Monocarboxylate transporter 8 deficiency: from pathophysiological understanding to therapy development. Front Endocrinol 12:723750. https://doi.org/10.3389/fendo.2021.723750

Article  Google Scholar 

Masnada S, Sarret C, Antonello CE et al (2022) Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome. Mol Genet Metab 135:109–113. https://doi.org/10.1016/j.ymgme.2021.12.003

Article  CAS  PubMed  Google Scholar 

van Geest FS, Groeneweg S, van den Akker ELT et al (2022) Long-term efficacy of T3 analogue triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study. J Clin Endocrinol Metab 107:e1136–e1147. https://doi.org/10.1210/clinem/dgab750

Article  PubMed  Google Scholar 

Groeneweg S, van Geest FS, Abacı A et al (2020) Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Lancet Diabetes Endocrinol 8:594–605. https://doi.org/10.1016/S2213-8587(20)30153-4

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kubota M, Yakuwa A, Terashima H, Hoshino H (2022) A nationwide survey of monocarboxylate transporter 8 deficiency in Japan: its incidence, clinical course, MRI and laboratory findings. Brain Dev 44:699–705. https://doi.org/10.1016/j.braindev.2022.07.007

Article  CAS  PubMed  Google Scholar 

Remerand G, Boespflug-Tanguy O, Tonduti D et al (2019) Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations. Dev Med Child Neurol 61:1439–1447. https://doi.org/10.1111/dmcn.14332

Article  PubMed  Google Scholar 

Visser WE, Vrijmoeth P, Visser FE et al (2013) Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation. Clin Endocrinol (Oxf) 78:310–315. https://doi.org/10.1111/cen.12023

Article  CAS  PubMed  Google Scholar 

FS van G, S G, Elt van den A, et al (2022) Long-term efficacy of T3 analogue triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study. J Clin Endocrinol Metab 107:. https://doi.org/10.1210/clinem/dgab750

Groeneweg S, Peeters RP, Moran C et al (2019) Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial. Lancet Diabetes Endocrinol 7:695–706. https://doi.org/10.1016/S2213-8587(19)30155-X

Article  CAS  PubMed  PubMed Central  Google Scholar 

Persani L, Rodien P, Moran C, et al (2024) 2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action. Eur Thyroid J ETJ-24–0125. https://doi.org/10.1530/ETJ-24-0125

Kersseboom S, Horn S, Visser WE et al (2014) In vitro and mouse studies supporting therapeutic utility of triiodothyroacetic acid in MCT8 deficiency. Mol Endocrinol Baltim Md 28:1961–1970. https://doi.org/10.1210/me.2014-1135

Article  CAS  Google Scholar 

Ünsal Y, Hayran G (2024) Impact of early intervention with triiodothyroacetic acid on peripheral and neurodevelopmental findings in a boy with MCT8 deficiency. J Clin Res Pediatr Endocrinol 16:116–122. https://doi.org/10.4274/jcrpe.galenos.2023.2023-10-1

Article  PubMed  PubMed Central  Google Scholar 

Anık A, Kersseboom S, Demir K et al (2014) Psychomotor retardation caused by a defective thyroid hormone transporter: report of two families with different MCT8 mutations. Horm Res Paediatr 82:261–271. https://doi.org/10.1159/000365191

Article  CAS  PubMed  Google Scholar 

Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424

Article  PubMed  PubMed Central  Google Scholar 

Kopanos C, Tsiolkas V, Kouris A et al (2019) VarSome: the human genomic variant search engine. Bioinformatics 35(11):1978–1980

Article  CAS  PubMed  Google Scholar 

Schwarz JM, Rödelsperger C, Schuelke M, Seelow D (2010) MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7:575–576. https://doi.org/10.1038/nmeth0810-575

Article  CAS  PubMed  Google Scholar 

World Health Organization. WHO child growth standards and the identification of severe acute malnutrition in infants and children. 2009. Available at: http://apps.who.int/iris/bitstream/10665/44129/1/9789241598163_eng.pdf?ua=1 (Accessed on April 15, 2024).

Becker P, Carney LN, Corkins MR et al (2015) Consensus statement of the Academy of Nutrition and Dietetics/American Society for Parenteral and Enteral Nutrition: indicators recommended for the identification and documentation of pediatric malnutrition (undernutrition). Nutr Clin Pract Off Publ Am Soc Parenter Enter Nutr 30:147–161. https://doi.org/10.1177/0884533614557642

Article  Google Scholar 

Hulst JM, Huysentruyt K, Gerasimidis K et al (2022) A practical approach to identifying pediatric disease-associated undernutrition: a position statement from the ESPGHAN special interest group on clinical malnutrition. J Pediatr Gastroenterol Nutr 74:693–705. https://doi.org/10.1097/MPG.0000000000003437

Article  CAS  PubMed  Google Scholar 

World Health Organization: Note on terminology of “wasting” and “acute malnutrition” (February 2023). Available at: https://fscluster.org/sites/default/files/documents/note_on_terminology_acute_malnutrition_and_wasting_who_feb_2023.pdf (Accessed on March 28, 2024).

Boston Childrens’ Hospital’. Boston pediatric echocardiography Zscores. 2015, 2019. https://zscore.chboston.org/. (Accesed on April 2024)

Demir K, Konakçı E, Özkaya G et al (2020) New features for child metrics: further growth references and blood pressure calculations. J Clin Res Pediatr Endocrinol 12:125–129. https://doi.org/10.4274/jcrpe.galenos.2019.2019.0127

Article  PubMed  PubMed Central  Google Scholar 

Flynn JT, Kaelber DC, Baker-Smith CM et al (2017) Clinical practice guideline for screening and management of high blood pressure in children and adolescents. Pediatrics 140:e20171904. https://doi.org/10.1542/peds.2017-1904

Article  PubMed  Google Scholar 

Fliers E, Unmehopa UA, Alkemade A (2006) Functional neuroanatomy of thyroid hormone feedback in the human hypothalamus and pituitary gland. Mol Cell Endocrinol 251:1–8. https://doi.org/10.1016/j.mce.2006.03.042

Article  CAS  PubMed  Google Scholar 

Masnada S, Groenweg S, Saletti V et al (2019) Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency. Metab Brain Dis 34:1565–1575. https://doi.org/10.1007/s11011-019-00464-7

Article  CAS  PubMed  Google Scholar 

van Tilborg E, de Theije CGM, van Hal M et al (2018) Origin and dynamics of oligodendrocytes in the developing brain: implications for perinatal white matter injury. Glia 66:221–238. https://doi.org/10.1002/glia.23256

Article  PubMed  Google Scholar 

Vancamp P, Demeneix BA, Remaud S (2020) Monocarboxylate transporter 8 deficiency: delayed or permanent hypomyelination? Front Endocrinol 11:283. https://doi.org/10.3389/fendo.2020.00283

Article  Google Scholar 

Calzà L, Fernández M, Giardino L (2015) Role of the thyroid system in myelination and neural connectivity. Compr Physiol 5:1405–1421. https://doi.org/10.1002/cphy.c140035

Article  PubMed  Google Scholar