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Published on: February 9, 2024
Congenital hypothyroidism: a five-year retrospective study at Children's University Hospital, Damascus, Syria
Mariam Saoud1, Sahar Al-Fahoum1, Younes Kabalan2
1Department of Biochemistry and Microbiology, Faculty of Pharmacy, Damascus University, Damascus, Syria.
Insights
Congenital hypothyroidism (CH) is a serious condition, but early detection and treatment prevent developmental issues. A screening program is urgently needed in Syria due to a high incidence and delayed diagnoses.
Area of Science:
- Pediatrics
- Endocrinology
- Public Health
Background:
- Congenital hypothyroidism (CH) is a treatable thyroid hormone deficiency.
- Untreated CH leads to severe intellectual disability and growth failure.
- Early detection and treatment ensure normal development in affected infants.
Purpose of the Study:
- To gather baseline data on CH in Syria.
- To assess the need for a national CH screening program.
- To inform public health strategies for CH management.
Main Methods:
- Retrospective study of patient records from 2008-2012.
- Inclusion of confirmed CH cases diagnosed at Children's University Hospital, Damascus.
- Analysis of demographic, clinical, and diagnostic data.
Main Results:
- 70 cases of CH were identified, with 67 confirmed.
- High prevalence of parental consanguinity (51.4%) and family history of hypothyroidism.
- Delayed diagnosis beyond the first month of life in 74.3% of cases.
- Commonly observed signs included cretinoid features, pallor, and developmental delay.
Conclusions:
- A national CH screening program is essential for Syria.
- Low specificity of clinical signs necessitates screening to avoid delayed diagnosis.
- Screening can identify asymptomatic cases, including subclinical hypothyroidism.
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 However, an unpublished pilot study supported by the International Atomic Energy Agency showed that the incidence of CH in Syria is more than the global incidence, indicating the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).
