Congenital hypothyroidism is a disease that affects an infants since their birth or congenital and the outcome is that there is total loss of thyroid function which is also known as hypothyroidism. The thyroid gland is situated in the lower side of the neck. The basic task of hypothyroidism is to make iodine contained hormones that help regulate growth, development of brain and chemical reaction rate or metabolism within the body. Congenital hypothyroidism results from the failure of the thyroid gland to function properly.

Congenital Hypothyroidism Inheritance and effects:

Many of the times it is noted that the congenital hyperthyroidism are sporadic that is they occur in people which have no prior history of the same disease. Mostly this disease can be inherited by the infants at the time of their birth. In case of inherited hypothyroidism the causes are autosomal recessive that is in a single cell two copies of genes are altered. The parents of child having congenital hypothyroidism usually have a copy of that gene present in them but they do not often show any such signs and symptoms. A study also confirms that the congenital hypothyroidism is inherited if the infant has autosomal dominant pattern that is having one copy of the altered gene in each cell which is enough to cause the abnormal condition. Most of the times the thyroid gland inside infant's body is not properly located and at other times it is reduced in size to a great extent. In certain cases the thyroid gland is normal sized but has decreased efficiency of producing the thyroid hormones. If the congenital hypothyroidism is not treated in time can lead to mental retardation and abnormal growth. Also if the congenital hypothyroidism is treated in the starting phases or during the first month after the infant's birth then it can help baby to develop normally.

Genes Causing the Congenital Hypothyroidism:

Congenital Hypothyroidism is basically caused due to the gene mutation of DUOX2, PAX8, SLC5A5, TG, TPO, TSHB and TSHR. The mutation in genes causes loss in proper thyroid functioning of the thyroid gland. The gene mutation of PAX8 and certain gene mutation in TSHR cause abnormal growth of thyroid gland in infants body before their birth. The gene mutations in other genes can also have a negative impact on the thyroid gland production leading to congenital hypothyroidism.