Related Experiment Video
Updated: Jul 10, 2026

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
Published on: March 17, 2023
Angelman syndrome and hypothyroidism - coincidence or unique correlation?
Justyna Paprocka1, Ewa Jamroz, Maria Kalina
1Department of Child Neurology, Silesian Medical University, Katowice, Poland. jstyna.paprocka@interia.pl.
Abstract:
Angelman Syndrome (AS, MIM 105830), classified among neurogenetic disorders, occurs with estimated frequency of 1:10 000 to 1:40 000. The characteristics features apart from neurodevelopmental impairment and seizures include peculiar face traits, absent speech, outburst of laughter, ataxia, stereotyped jerky (puppet-like) movements. The authors report three children with Angelman syndrome who were also diagnosed with hypothyroidism.
Related Concept Videos
Hypothyroidism II: Pathophysiology
Hyperthyroidism I: Introduction
Hyperthyroidism II: Pathophysiology
Graves' Disease I: Introduction
Graves Disease II: Pathophysiology
Synthesis and Regulation of Thyroid Hormones
Upon reaching the thyroid gland, TSH stimulates the follicular cells' active uptake of iodide ions from the blood. The ions diffuse to the apical surface of the cells and are oxidized to iodine. The iodine is then...