Prevalence of Concurrent Congenital Disabilities in Infants With Congenital Hypothyroidism: A Systematic Review

Abstract

Background: Congenital hypothyroidism (CH) is one of the most prevalent endocrine disorders in children. According to the literature, there is a high prevalence of other anomalies and syndromes in infants diagnosed with CH. Objectives: This study finds the prevalence of concurrent anomalies and the prevalence of each one. Methods: This was a systematic review study based on the preferred reporting items for systematic reviews and meta-analysis (PRISMA). The research question was the comparison of children with and without CH in terms of having extra-thyroidal congenital anomalies. A systematic literature search through PubMed, Science Direct, Scopus, and the Web of Science databases was done using the following key words: Congenital hypothyroidism, birth defects, congenital anomalies. Results: From the 655 initially retrieved articles, 24 articles remained, and 4 additional references were found by reviewing the references of the final articles. Finally, 28 articles were selected. The prevalence of extra-thyroidal anomalies ranged from 5% to 50% in girls and from 4% to 80% in boys. Meanwhile, 20% of the permanent CH patients and 13% of the patients with transient CH had extra-thyroidal congenital malformations. Cardiac anomalies were more prevalent in girls (female to male ratio=1.6 [0.7 to 5.5]), and urogenital anomalies were more reported in boys. Most of the studies did not report the association between non-thyroidal anomalies and thyroid stimulating hormone, gender, etiology of CH, and transient and permanent CH. Conclusions: Congenital anomalies are more common in CH patients compared with the general population, even in the absence of congenital syndromes or chromosomal abnormalities. The most common anomalies are cardiac, craniofacial, urogenital, and nervous system.

Keywords

• congenital hypothyroidism (ch)
• birth defects
• congenital anomalies