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Congenital hypothyroidism: What are the causes and symptoms?

If congenital hypothyroidism is not detected at birth and is diagnosed later on in life, then the child may present with short height, overweight intellectual impairment

By: Parenting Desk | New Delhi |
December 10, 2021 7:32:36 pm
Congenital hypothyroidism, what is congenital hypothyroidism, what causes congenital hypothyroidism, signs and symptoms of congenital hypothyroidism, treatment for congenital hypothyroidism, parenting, indian express newsCongenital hypothyroidism is not an inherited disorder. This means that if your first baby has this condition, it is not necessary that your other children also may suffer from this condition. (Photo: Getty/Thinkstock)

By Dr Rajeshwari Janakiraman

Congenital hypothyroidism is a condition affecting the thyroid gland that is present from birth. It occurs due to the absence of or an underdeveloped thyroid gland. In some cases, the thyroid gland has developed but is unable to produce the thyroid hormones. Studies show that one in every 3000 to 4000 kids is affected by congenital hypothyroidism globally. In India, the ratio is 1:2640 neonates who suffer from congenital hypothyroidism and the mortality rate is about 10.9% of the total number of cases.

The thyroid gland is an endocrine gland that is situated in the neck. It is essential for your body as it produces two hormones, thyroxine (T4) and triiodothyronine (T3), that are released into the blood. Malfunctioning of the thyroid gland gives rise to thyroid dysfunction. Overactivity of the thyroid gland leads to hyperthyroidism and underactivity leads to hypothyroidism.

Symptoms

The symptoms of congenital hypothyroidism are not usually clear in the first week after birth. Severe hypothyroidism can result in:

  • Excessive sleeping

  • Poor feeding

  • Poor latching

  • Weak cry

  • Constipation

  • Jaundice that is prolonged after birth (yellowish discolouration of skin and eyes)

You may also notice the following in babies with congenital hypothyroidism:

  • Puffy face

  • Large tongue

  • Distended abdomen (bloating)

  • Poor muscle strength

If congenital hypothyroidism is not detected at birth and is diagnosed later on in life, then the child may present with the following symptoms:

  • Short height

  • Overweight

  • Intellectual impairment

Causes:

There are three main causes of congenital hypothyroidism –

Dysgenesis: Dysgenesis is a condition where the thyroid gland is absent, reduced in size, or located at the wrong place.

Dyshormonogenesis: Dyshormonogenesis is a condition where your thyroid gland is present but is unable to produce the thyroid hormones.

Medications: Intake of thyroid medicines by the pregnant mother for managing an overactive thyroid during pregnancy

Congenital hypothyroidism is not an inherited disorder. This means that if your first baby has this condition, it is not necessary that your other children also may suffer from this condition.

Diagnosis

The baby’s umbilical cord blood is collected at birth for testing. As a part of the post-birth tests, the Thyroid-Stimulating Hormone (TSH) is also tested. When the TSH levels are high in the cord blood sample, it indicates congenital hypothyroidism. In case of any doubts regarding the results, the test is repeated for a confirmatory report.

Once the diagnosis of the condition is confirmed with the blood tests, the baby will then undergo a series of tests like the scintigraphy scan.

Treatment

Once your baby tests positive for congenital hypothyroidism, a paediatric endocrinologist (hormone specialist for children) will manage the case.

The treatment protocol for congenital hypothyroidism is as follows:

  • Thyroid medicines based on the weight of the baby are to be started right away. Dosage is to be adjusted regularly as the baby grows.

  • Monitor TSH levels and thyroid hormone levels every few weeks during the first few months of life. Repeat the test every 2-6 months once the baby is in the infancy stage.

Quality of life

If your child has congenital hypothyroidism then this is for you:

  • Most children with the condition will grow up normally if screened early and treated right from birth.

  • If the treatment is started early, then chances of complications related to congenital hypothyroidism like low IQ or developmental problems can be prevented.

  • If not diagnosed and managed early, then chances of your child being dependent on someone for surviving and managing day-to-day activities are higher.

(The writer is Consultant – Endocrinologist, Manipal Hospital Yeshwanthpur.)

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