Neonatal Screening for Congenital Hypothyroidism: What can we learn from Discordant twins?
Authors of this article are:
Medda E, Vigone MC, Cassio A, Calaciura F, Costa P, Weber G, de Filippis T, Gelmini G, Di Frenna M, Caiulo S, Ortolano R, Rotondi D, Bartolucci M, Gelsomino R, De Angelis S, Gabbianelli M, Persani L, Olivieri A.
A summary of the article is shown below:
CONTEXT: Newborn screening program for congenital hypothyroidism (CH) adopting re-screening in at-risk neonates.OBJECTIVES: To estimate the concordance rate for CH in twin pairs discordant at the first screening; to verify whether long-term follow-up of healthy cotwins belonging to CH discordant pairs may be useful to diagnose thyroid hypofunction during development; to evaluate the importance of genetic and environmental influences on liability to permanent and transient CH.DESIGN, PATIENTS: Forty-seven screening discordant twin pairs were investigated. Proband was defined as the twin in the pair with a positive test at the first screening and a confirmed diagnosis of CH.RESULTS: Seven screening discordant twin pairs became concordant for CH within the first month of life (pairwise concordance=14.9%) since 7 screening negative cotwins showed high TSH values when retested. During long-term follow-up (range 3-21 years), hypothyroidism was diagnosed in 2 monozygotic screening negative cotwins at the age of 9 months and 12 years, respectively. Furthermore, the twin analysis showed that 95% of liability to transient CH was explained by genetic factors and 5% by environmental (unshared) factors, whereas 64% of phenotypic variance of permanent CH was explained by common environmental factors (shared during the fetal life) and 36% by unshared environmental factors.CONCLUSIONS: This study showed that the introduction of re-screening permits the diagnosis of CH in a greater number of twins. It also showed the importance of long-term follow-up in both twins in the pair, and the role of non-genetic factors in the etiology of permanent CH.Copyright © 2019 Endocrine Society.
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