Mandatory newborn screening essential to detect Congenital Hypothyroidism

Since the Congenital Hypothyroidism can be prevented with early detection and treatment, leading doctors stress on the significance of newborn screening by sensitization of concerned staff at hospitals


New Delhi: India is slowly emerging as a world leader in medical advancements. The country is already a major provider of health services due to presence of some of the most highly skilled and qualified medical firms. However, there are many health issues that have not been prioritized yet due to focus on other important areas. One such major health concern is deficiency of thyroid hormones in new born babies and the condition is called ‘Congenital Hypothyroidism’.

The word ‘congenital’ refers to a condition that occurs at or before birth and ‘hypothyroidism’ in an infant means that the baby is not making enough thyroid hormone to mentally and physically develop normally. In this condition, the thyroid gland found in the neck, is either abnormal in structure, abnormal in chemistry, or is lacking iodine to make thyroid hormone. Lack of thyroid hormone causes many symptoms but is not readily evident at birth and shortly thereafter.

congenital-hyothyroidismTo encourage conversations on the topic, Dr Rajesh Khadgawat, Additional Professor, Department of Endocrinology & Metabolism, All India Institute of Medical Sciences, Dr Anju Virmani, Senior Consultant Diabetologist and  Endocrinologist, All India Institute of Medical Sciences and Dr Ganesh S Jevalikar, Consultant (Pediatric Endocrinology), Medanta Division of Endocrinology & Diabetes, came together to evaluate associated risks and minimize possible threats for Congenital Hypothyroidism by early intervention.

Stressing on the current situation in the country, Dr Rajesh Khadgawat, Additional Professor, Department of Endocrinology & Metabolism, All India Institute of Medical Sciences, said, “Congenital Hypothyroidism is one of the few conditions which can be identified through newborn screening, but if left undetected and untreated can leave permanent damages. The first few years of a child’s life are extremely crucial for mental and physical development. If adequate amount of the thyroid hormone is not available, the human brain cannot develop normally. A child who is diagnosed and treated at a later stage will catch up on physical growth, but will lack appropriate mental development. Therefore, early identification, diagnosis and treatment are essential.”

Reports suggest that Congenital hypothyroidism affects an estimated 1 in 3,000-4,000 babies annually in the US. In India, the studies have found that 1 in 2,640 babies has the disease.


Most new born babies with Congenital Hypothyroidism appear normal at birth, even if there is complete lack of development of the thyroid gland. This is because a small amount of thyroid hormone (T4) from the mother is transferred to the baby during pregnancy. Around 10 per cent of infants with Congenital Hypothyroidism have other associated abnormalities; most commonly witnessed are cardiac abnormalities followed by abnormalities of the nervous system and eyes.

Stressing on the importance of timely identification and treatment, Dr Anju Virmani, Senior Consultant Diabetologist and Endocrinologist, All India Institute of Medical Sciences said, “Congenital Hypothyroidism is one of the most detrimental causes of mental retardation. Studies have demonstrated that if the child is treated adequately and procedures are completed by 3 months, the child will attain normal mental development. CH is easy to diagnose and treat. That is why we need to create awareness amongst masses. There is a need to have a legislation which mandates universal screening program for newborns.”

Replying to the questions, Dr Ganesh Jevalikar, Consultant (Pediatric Endocrinology), Medanta Division of Endocrinology & Diabetes mentioned, “A life free from Congenital Hypothyroidism is a birth right of every child. Newborn screening which can help detect condition like CH should be mandated in India. The level of awareness is increasing, but it is still low. Pediatricians have taken it up to themselves to educate parents to be on CH and newborn screening. The situation on ground is much worse than what studies reveal. A new study shows that 1 in 1000-1500 children suffer from CH. A simple test to detect CH within 2-5 days of is essential. Delayed diagnosis leads to permanent mental retardation. Also, after diagnosis, treatment is simple, inexpensive and extremely effective. Almost all developed countries practice universal new born screening for CH and it should be mandated in India as well. A lifelong affordable treatment can help a child lead a normal life.”

Left untreated, congenital hypothyroidism causes severe developmental delays among other problems. These babies develop facial features that are described as coarse and often have poor muscle tone in their arms and legs. Once it is diagnosed, treatment is relatively simple and involves giving thyroid hormone in the form of an oral medication and regular blood tests to monitor the level of thyroid hormone in the body. Pediatricians also monitor growth, weight gain, and developmental milestones as they can all be affected.