Causes of congenital hypothyroidism

The article was professionally consulted with Specialist Doctor I Nguyen Huu Nam - Pediatrician - Neonatologist - Department of Pediatrics - Neonatology - Vinmec Nha Trang International General Hospital.

Children with congenital hypothyroidism are caused by an endocrine disorder that causes a lack or defect in the action of thyroid hormones. This causes delays in physical, mental and motor development in children. If the disease is not detected and treated in time, the child will be at high risk of lifelong dwarfism and stupidity, even death.

Congenital hypothyroidism, also known as cretinism, has a frequency of 1/3000-1/4000 children, that is, 1 out of every 3000-4000 babies born each year will have 1 child with cretinism. this disease.
Hypothyroidism is a deficiency of thyroid hormone due to an underactive or absent thyroid gland. Congenital is present immediately after birth.
Hormones are chemical substances secreted by the internal endocrine glands (which are parts of the body) that have the function of regulating metabolism, growth and development of the body.

As mentioned above, the endocrine hormone secreted by the thyroid gland has an effect on the body's metabolism, growth and development, especially has a great influence on the development of the brain. Therefore, thyroid hormone deficiency will cause the following consequences:
If a newborn baby has congenital hypothyroidism but is not detected and treated promptly within the first 2-3 weeks after birth, the disease will effects on the baby's health. During the neonatal period: Usually, newborns have mild jaundice that lasts about 1-2 weeks and is usually not harmful. However, in children with congenital hypothyroidism, the jaundice lasts longer than usual, the skin color is often lead gray or pale. Babies also often sleep more, are less flexible to noises from the outside environment, cry less, suck less, stop sucking or are not awake when feeding, slow to gain weight, stick out their tongue, cold hands and feet... The period after birth and young children: Children with congenital hypothyroidism have delayed physical development (slow in height and weight gain), mental (inflexibility, poor learning...) compared to children. normal. If children with congenital hypothyroidism are detected too late, the treatment will be reduced effectively due to mental development sequelae and irreversible long-term T4 deficiency.

Congenital hypothyroidism has 2 main causes:
First, the cause is the thyroid gland (also called primary hypothyroidism). This is a common cause
Morphological: due to abnormalities in the formation, development and growth of the thyroid gland. Some people are born with no thyroid gland, thyroid gland is small or ectopic.. Function: due to abnormality in the production or release of thyroid hormone despite the presence of thyroid gland. Second, it is caused by the pituitary gland or the hypothalamus (also called central hypothyroidism). These are abnormalities in the formation or function of the pituitary gland or the hypothalamus. Abnormal pituitary gland function causing congenital hypothyroidism is less common in only about 5% of clinical cases.

Children with congenital hypothyroidism at birth have quite faint signs of recognition, so it is difficult for parents to recognize. Usually, when parents notice the symptoms of the disease, it is already at a late stage because of the nervous system. Children's menstrual cycle develops very quickly. Therefore, if treatment is delayed, children will be less physically and mentally developed than their peers. It is most effective for parents to have their children diagnosed early with a newborn screening program.
Screening for congenital hypothyroidism should be done within 48 hours after birth by taking blood from the heel, then measuring the TSH level in the blood. If TSH is elevated, it is suspected that the child has congenital hypothyroidism. With timely diagnosis and treatment, children will have a good chance of developing as normal.
Besides, parents need to pay attention to some signs to recognize congenital hypothyroidism to detect the disease at the earliest such as: constipation, prolonged jaundice; protruding tongue, protruding navel; physical retardation such as delay in height growth, slow weight gain; The mental development milestones according to the age of children are slower than those of normal children, etc., the children should be taken to the doctor as soon as possible.
Currently, Vinmec International General Hospital is one of the addresses to ensure professional quality with a team of dedicated and dedicated leading doctors in the treatment of diseases. At the same time, the system of modern equipment and technology stands out with comprehensive and professional medical examination, consultation and treatment services, safe medical examination and treatment space and guaranteed sterilization. Customers when choosing to perform tests, examination and treatment here can be completely assured of the accuracy of the results.

Congenital hypothyroidism in infants needs to be diagnosed and treated early, otherwise this pathology will seriously affect the child's mental, physical development and learning ability.
Department of Endocrinology - Diabetes under the Department of General Internal Medicine - Vinmec Times City International Hospital has the function of examining, diagnosing and treating Endocrine diseases: pituitary - thyroid - adrenal gland diseases and Diabetes, including the treatment of neonatal hypothyroidism.
The specialist works closely with the IVF Center - Obstetrics Department in the management of patients with thyroid disease during pregnancy, gestational diabetes. In addition, the specialist applies new techniques in disease treatment such as: treatment of benign thyroid nodules with high-frequency ablation (avoiding surgery for thyroid nodules).