Goitre Goitre A goitre, or goiter, is a swelling in the neck resulting from an enlarged thyroid gland. A goitre is associated with a thyroid that is not functioning properly. Worldwide, over 90% of goitre cases are caused by iodine deficiency. The term is from the Latin "gutturia", meaning throat. Most goitres are of a benign nature. A goitre, associated with hypothyroidism or hyperthyroidism, may be present with symptoms of the underlying disorder. For hyperthyroidism, the most common symptoms are associated with adrenergic stimulation: tachycardia (increased heart rate), palpitations, nervousness, tremor, increased blood pressure and heat intolerance. Clinical manifestations are often
ZC4H2 deficiency neurological manifestations. These can include: To date, there is no cure or effective treatment for this condition. Current approach is limited to supportive therapies and interventions. ZC4H2 deficiency ZC4H2 (Zinc finger C4H2-type) is a protein-coding gene located on the X-chromosome. This gene encodes a protein which is a member of the so-called zinc finger domain-containing protein family. There is currently very limited understanding about the ZC4H2 gene and its protein function. Any pathogenic variant of ZC4H2 which is associated with a clinical phenotype is referred to as "ZC4H2 Deficiency". The limited research published to date indicates that ZC4H2 is expressed