Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins?
J Clin Endocrinol Metab
; 104(12): 5765-5779, 2019 12 01.
Article
em En
| MEDLINE
| ID: mdl-31287502
CONTEXT: Newborn screening program for congenital hypothyroidism (CH) adopting rescreening 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 AND 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 of 14.9%) because seven screening negative cotwins showed high TSH values when retested. During long-term follow-up (range, 3 to 21 years), hypothyroidism was diagnosed in two 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 rescreening 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 nongenetic factors in the etiology of permanent CH.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Gêmeos Dizigóticos
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Gêmeos Monozigóticos
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Triagem Neonatal
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Hipotireoidismo Congênito
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Doenças em Gêmeos
Tipo de estudo:
Diagnostic_studies
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Screening_studies
Limite:
Female
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Humans
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Male
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Newborn
Idioma:
En
Revista:
J Clin Endocrinol Metab
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Itália
País de publicação:
Estados Unidos