Related Experiment Video
Updated: Jul 16, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Townes-Brocks syndrome with hypothyroidism
1Kalawati Saran Children's Hospital, New Delhi 110 001, India.
Abstract:
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, limb deformity, imperforate anus, and renal malformations. Hypothyroidism is not a recognized feature of TBS. We are reporting a case of TBS with hypothyroidism, a rare association.
Related Concept Videos
Hypothyroidism II: Pathophysiology
Hyperthyroidism I: Introduction
Hyperthyroidism II: Pathophysiology
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...
Graves' Disease I: Introduction