How do people inherit congenital hypothyroidism?
Most cases of congenital hypothyroidism are sporadic, which means they occur in people with no history of the disorder in their family. An estimated 15 to 20 percent of cases are inherited. Many inherited cases are autosomal recessive, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Some inherited cases (those with a mutation in the PAX8 gene or certain TSHR mutations) have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
