Early diagnosis of hypothyroidism in the newborn babies is essential to avoid future problems in neurological development.

-hypothyroidism affects between one and three percent of the child population

-is important that pregnant women submit values of normal thyroid hormones for the correct development Fetal

– after the birth, thanks to the establishment at the national level of the Neonatal screening, it is possible to diagnose and treat with the necessary speed most congenital hypothyroid, although they have no symptoms

-the Commission of the SEQC is working on the detection of the newborns for preterm infants with the aim of adjusting the time of sampling the value of the results is optimum for control and follow-up of these children

Madrid, December of 2011- the thyroid hormones are necessary for the development of the central nervous system. In such a way that the lack of these hormones in the last months of gestation and first days of life causes irreversible mental retardation.

For this reason, that the correct development of the fetus, all pregnant must present values of normal thyroid hormones (which leads to have adequate levels of iodine).

In addition, the thyroid hormones are necessary for the proper functioning of specific organs and systems (metabolism, heart, digestive tract, reproductive system, etc.), which are affected when you do not have adequate levels.

In the pediatric population, hypothyroidism is the most common thyroid dysfunction prevalence – according to recent studies published – 1%-3%. Furthermore, it is estimated that 5% of children presenting mild or subclinical hypothyroidism.

The Commission of the Perinatal diagnosis of the Spanish society of Clinical Biochemistry and Molecular Pathology (SEQC), has among its tasks improve as much as possible the study of congenital hypothyroidism, disease which forms part of all programmes of Neonatal screening of Spain.

In this regard, to the DRA. Mª José Garriga Cascón, endocrinóloga of the unity of management Diagnostics of laboratory of the Hospital Universitario Carlos Haya in Málaga, have achieved coverage close to 100% at the national level of the Neonatal screening, is the main progress in this field, since it makes it possible that after birth they are diagnosed and treated all children with this type of hypothyroidism with the necessary speed to avoid future problems in Neurodevelopmental ”.

Also in the practice of Pediatrics increasingly are carried out further studies of thyroid function, because the diagnosis is reliable, at a cost – acceptable effectiveness and treatment is easy and efficient ”, underlines this expert.

Along with the Neonatal screening DRA. Garriga highlighted other important advances: diagnosis of greater number of mild hypothyroidism, the realization of the diagnosis and the establishment of treatment at an appropriate time, and the improvement of the detection of some false negative cases, such as the twin, because repeated them proof of heel after 15 days ”.

One of these aspects in which the Commission of the SEQC is working is in the detection of the newly born preterm (less than 32 weeks gestation) where the implementation of protocols, together to pediatricians neonatologists and endocrinologists, will allow to adjust the time of sampling so the value of the result is optimum for control and follow-up of these children.

Another important issue is to deepen the understanding of the transient hypothyroidism, as – says Dr. Marin – these alterations ‘ temporary ’ the normal functioning of the thyroid gland, create a high level of anxiety in families and its pathophysiology is not yet well known ”.

It is also a pending issue in this disease right correlation between genotype and phenotype of it: between the genetic alteration and its clinical manifestations. A greater understanding of this relationship might offer light on some of these transient congenital hypothyroidism, and help establish a better classification of the disease.

In the same vein, the DRA. Garriga believes that know the genetic origin that causes the disease, i.e. study the genes responsible for the pathology, is the main challenge. For this expert, this would be possible if there is a Centre for molecular diagnostics in close connection with screening Neonatal centres, and these in turn with the consultations of Paediatrics ”.

Diagnostic

Using the diagnosis in childhood, it is possible to prevent future alterations of the thyroid in adulthood. In fact, increasingly are publishing more work of thyroid pathology in adults whose origin is in childhood.

The diagnosis of congenital hypothyroidism is well Protocol and is not technically difficult, because that simply determines the level of TSH in sample of whole blood (heel test in screening Neonatal). The study of thyroid dysfunction by the laboratory of Biochemistry is not complex.

What if you have more complications is to know the cause (etiology) causing the dysfunction. In this sense, it would be very useful to know what genes are responsible for many of these thyroid pathologies, both for its diagnosis and treatment.

On the other hand, are acquired, whose prevalence increases with age. In such symptoms depend on the degree of dysfunction, although the main are low stature, obesity, constipation, dry skin and drowsiness. In this group, clearly pathological hypothyroid usually have an autoimmune origin, yet subclinical genetic origin with 29% of cases.