Congenital Hypothyroidism- Neonatal Screening

Ira Shah
Consultant Pediatrician, B.J.Wadia Hospital for Children, Mumbai, India
First Created: 12/12/2001  Last Updated: 08/01/2015

Patient Education

Hypothyroidism is the commonest endocrine problem in children. Thyroid hormones play a role in the biologic processes of practically all organs of the body. Lack of thyroid hormones leads to a slowing of the body's metabolic rate with decreased maturation of all the organs. Hypothyroid state right from birth is known as congenital hypothyroidism. If not detected early, it can lead to delayed development and even mental retardation.

Congenital hypothyroidism can occur due to a variety of causes and include:

  • Poor development of thyroid gland (hypoplasia)

  • Administration of radio iodine during pregnancy leading to damage to fetal thyroid

  • Defects in pituitary gland or hypothalamus (area that controls hormonal balance of all endocrine glands) in the brain.

  • Unresponsiveness of body organs to thyroid hormones.

  • Enzyme defects leading to defective synthesis of thyroid gland.

The commonest cause of congenital hypothyroidism is poor development of the thyroid gland.

Clinical features:

Congenital hypothyroidism is more common in girls as compared to boys. The clinical features are usually absent or non-specific or subtle that the majority of infants look normal at birth. Some of them may have prolonged pregnancy (more than 42 weeks) and increased birth weight. If not screened for congenital hypothyroidism at birth, they may develop constipation, poor feeding due to decreased appetite and lethargy, and jaundice.

Long-standing untreated patients may develop classical features of congenital hypothyroidism. Congenital hypothyroidism can be diagnosed by doing thyroid tests and a nuclear scan to look for the presence of a thyroid gland. Sometimes the clinician may ask for X-Ray of the knee or hand to check for delayed development of the bones.


Treatment for congenital hypothyroidism consists of thyroid hormone replacement as early as possible to prevent delayed development. Therapy is required for a few years in patients with transient hypothyroidism and life long in patients with the underdeveloped thyroid gland.

Congenital Hypothyroidism- Neonatal Screening Congenital Hypothyroidism- Neonatal Screening 2015-08-01
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