Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study


Groeneweg S., van Geest F. S. , ABACI A., Alcantud A., Ambegaonkar G. P. , Armour C. M. , ...Daha Fazla

LANCET DIABETES & ENDOCRINOLOGY, cilt.8, sa.7, ss.594-605, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8 Konu: 7
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1016/s2213-8587(20)30153-4
  • Dergi Adı: LANCET DIABETES & ENDOCRINOLOGY
  • Sayfa Sayıları: ss.594-605

Özet

Background Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. p p p Interpretation Our description of characteristics of MCT8 deficiency in a large patient cohort reveals poor survival with a high prevalence of treatable underlying risk factors, and provides knowledge that might inform clinical management and future evaluation of therapies.