There are many syndromes and genetic conditions that DNA testing can detect successfully but can we diagnose the possibility of a child having congenital hypothyroidism with genetic testing?

Congenital hypothyroidism is a condition in which active thyroid hormone is not available in an adequate amount. It is a partial or full failure of thyroid gland activity that affects newborns from birth.  It is estimated that 1 in 2,000 to 4,000 babies are affected by this disease. Also, congenital hypothyroidism strikes twice as many girls as boys for unknown causes.

The thyroid gland is a gland situated in the lower neck which is responsible for the secretion of iodine-containing hormones. These hormones play a vital role in the growth regulation, chemical reactions, and brain development of an individual. People suffering from congenital hypothyroidism have a lower level of these hormones.

Symptoms

Although babies with this disease might not show any features of this condition they are usually sleeping more and are less active than normal babies. Sometimes babies might suffer from constipation and face difficulties in feeding. If left untreated congenital hypothyroidism can lead to slow growth of the child and intellectual disability.

In several cases, congenital hypothyroidism is caused by syndromes like Pendred syndrome, brain-lung-thyroid syndrome, and Bamforth-Lazarus syndrome.

Diagnosis

DNA testing can help to determine the possibility of these syndromes in a baby. A genetic diagnosis can help determine if permanent thyroid hormone replacement is required, as well as offer families with risk information and the option of genetic counseling.