Hypothyroidism, Congenital, Nongoitrous

What is Hypothyroidism, Congenital, Nongoitrous?

Congenital Hypothyroidism refers to hypothyroidism that is present at birth. This means that the thyroid gland does not function in part, or at all. The thyroid, generates the hormones that contain iodine and which help to regulate growth and brain development, as well as the metabolism of the body. Congenital hypothyroidism affects the amount of levels of these hormones in an affected individual which in turn can impact on different parts of their body.

The non goitrous label of the syndrome refers to those cases where the thyroid is partially or fully missing as opposed to enlarged. If left untreated the condition can cause delayed growth and intellectual disability.

As a result testing for congenital hypothyroidism is standard in newborn screening and tests across the US.

The condition affects 1 in every 2-4,000 newborns in the US. For reasons that are as yet unknown it has been found to affect more than twice as many female newborns as male.

What gene changes cause Hypothyroidism, Congenital, Nongoitrous?

Just 2-5% of cases of the syndrome are believed to be inherited. Those that are are caused by mutations in the PAX8 , TSHR, TSHB, PAX8, NKX2-5, TRHR, CHNG3, THRA, TBLIX, and IRS4 genes.

The majority of cases are the result of de novo mutations. When inherited they are done so in an autosomal recessive pattern.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Hypothyroidism, Congenital, Nongoitrous?

The main symptoms are linked to the hypothyroidism of the syndrome. In infants these can include difficulty feeding and sleeping more than is usual. If left untreated in infants it can cause intellectual disability.

Other symptoms may include delayed growth and delayed skeletal maturity.

How does someone get tested for Hypothyroidism, Congenital, Nongoitrous?

The initial testing for Hypothyroidism, Congenital, Nongoitrous syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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