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Diagnosis and management of neonatal endocrine conditions

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The screening of congenital hypothyroidism (CH) is considered important in paediatrics. Thyroid hormones are quite essential for brain development that continues through the neonatal period. Hypothyroidism that generally begins in the first months of life causes irreversible damage to the central nervous system. This is also one of the most frequent and preventable causes of mental retardation.

Hypothyroidism is basically characterised by the clinical and laboratory features that result from the decreased level of biological activity of thyroid hormones. In most of the cases, it is often associated with decreased serum levels of thyroid hormones along with the elevation of thyroid-stimulating hormone (TSH) levels.

Congenital hypothyroidism (CHT) and neonatal hypothyroidism include a heterogeneous group of thyroid hormone abnormalities leading to a reduced thyroid function which can be detected as early as the neonatal period.
The symptoms of hypothyroidism are nonspecific and progress in direct correlation to the duration and severity of it.

Various screening programmes have exhibited that congenital hypothyroidism is very frequent and in most cases have prevented the brain damage and the secondary permanent intellectual disability that had been observed in children in past.

The objective behind the diagnosis of neonatal endocrine conditions

Early detection of all forms of neonatal endocrine conditions prevents neurologic damage and reduces the morbidity, mortality and potential disabilities associated with the disease.

It is very important that proper emphasis should be given to the neonatal screening tests. Further, patients with a positive result of screening can go for additional diagnostic evaluation, which requires the support of a specialist in the diagnosis and treatment of the disease. The aim is to confirm or rule out the diagnosis of endocrine conditions and promptly initiate the treatment if required.

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