Abstract
Background: Congenital hypothyroidism (CH) is a treatable thyroid hormone deficiency that causes severe mental retardation and growth deficiency if not detected and treated early. The treatment of CH is simple, inexpensive, and effective. With early detection and treatment, infants usually develop normally without mental retardation and become productive members of society. In Syria, a screening program is not available, and there is no published information about the actual incidence of CH. However, an unpublished pilot study supported by the International Atomic Energy Agency showed that the incidence of CH in Syria is more than the global incidence, indicating the importance of the application of a CH screening program in Syria. Objectives: The present study aimed to collect baseline information about CH in Syria to estimate the potential need of a screening program. Materials and methods: This retrospective study was performed at Children's University Hospital, Damascus. The study included the medical records of patients who had CH as the final diagnosis between 2008 and 2012. Some patients were diagnosed elsewhere and were then admitted to the hospital within the same period. Results: In this study, 70 cases registered as CH, 67 of them had confirmed, 40 (57.1 %) were male and 30 (42.9%) were female. Among the patients, (51.4%, n = 36) involved parental consanguinity and 6 had a family history of hypothyroidism. Additionally, 74.3% were not diagnosed during the first month of life. The signs and symptoms most commonly detected were cretinoid face (60%), pallor (44.3%), delayed neuropsychomotor development (37.1%), growth failure (36.7%), jaundice (35.7%), and hypotonia (35.7%). Conclusion: A CH screening program is necessary in Syria owing to the low specificity of the signs and symptoms of CH, which can lead to delayed diagnosis, and the presence of asymptomatic cases (subclinical hypothyroidism).
Highlights
Congenital hypothyroidism (CH) involves thyroid hormone deficiency at birth
In many developed countries, infants routinely undergo thyroid screening, which involves the measurement of thyroid-stimulating hormone (TSH) and thyroxine (T4) in cord blood or neonatal heel blood.[5]
The quantitative determination of serum free T4 and TSH levels in a sandwich chemiluminescence immunoassay using the Liaisonw Kit (Via Crescentino, snc. – 13040 Saluggia (VC) – ITALY), in accordance with the normal ranges mentioned in Table 1, confirmed the diagnosis
Summary
Congenital hypothyroidism (CH) involves thyroid hormone deficiency at birth. Issues with thyroid gland development (dysgenesis) or disorders of thyroid hormone biosynthesis (dyshormonogenesis) most commonly cause thyroid hormone deficiency at birth.[1]CH is one of the most common treatable endocrine diseases, which can affect the growth and mental development of newborns if not treated promptly. Congenital hypothyroidism (CH) involves thyroid hormone deficiency at birth. Diagnosis and treatment during the first weeks of life are extremely important for the normal intellectual development of affected children.[2,3] An early clinical diagnosis of CH is difficult to achieve based on clinical manifestations, which are often subtle or not present at birth,[4] but it is achievable with simple, low-cost diagnostic laboratory tests for thyroid function. Congenital hypothyroidism (CH) is a treatable thyroid hormone deficiency that causes severe mental retardation and growth deficiency if not detected and treated early. With early detection and treatment, infants usually develop normally without mental retardation and become productive members of society. Objectives: The present study aimed to collect baseline information about CH in Syria to estimate the potential need of a screening program. The signs and symptoms most commonly detected were cretinoid face (60%), pallor (44.3%), delayed neuropsychomotor development (37.1%), growth
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