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A Population-Based Study on the Frequency of Additional Congenital Malformations in Infants with Congenital Hypothyroidism: Data from the Italian Registry for Congenital Hypothyroidism (1991–1998)
Abstract
In the last decade a high frequency of other congenital anomalies has been reported in infants with congenital hypothyroidism (CH) detected by neonatal screening. In the present study the occurrence of additional congenital malformations (CM) in the population of CH infants detected in Italy between 1991 and 1998 (n = 1420) was investigated. In Italy all of the centers in charge of screening, treatment, and follow-up of CH adhere to the Italian National Registry of infants with CH. In this study a high prevalence of additional CM (8.4%), more than 4-fold higher than that reported in the Italian population (1-2%), was found in the population of CH infants. Cardiac anomalies represented the most frequent malformations associated with CH, with a prevalence of 5.5%. However, a significant association between CH and anomalies of nervous system, eyes, and multiple CM was also observed. In conclusion, the significantly higher frequency of extrathyroidal congenital malformations reported in the CH infants than in the general population represents a further argument supporting the role of a genetic component in the etiology of CH. Investigations of the molecular mechanisms underlying developmental events of formation of thyroid and other organs represent critical steps in the knowledge of CH etiology.
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“Finally, the prevalence of congenital malformations, particularly cardiac defects, including septal defects, and renal abnormalities (82) is higher in individuals with CH than in the general population, with differences in prevalence between studies (83–89);”
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Cites
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Salerno, M., Vigone, M. C., Cassio, A., Cavarzere, P., Cherubini, V., Faienza, M. F., Gastaldi, R., Tuli, G., Wasniewska, M. G., & Olivieri, A. (2026) · Endocrine · doi:10.1007/s12020-026-04656-x
Self-citation
Metadata
- Authors
- Olivieri, A., Stazi, M. A., Mastroiacovo, P., Fazzini, C., Medda, E., Spagnolo, A., De Angelis, S., Grandolfo, M. E., Taruscio, D., Cordeddu, V., & Sorcini, M.
- Affiliations
- Università Cattolica del Sacro Cuore (IT)
- Istituto Superiore di Sanità (IT)
- Corresponding author
- Olivieri, A.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2002-02
- Volume
- 87
- Issue
- 2
- Pages
- 557-562
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2166548432
- Cited by
- 224
- References
- 38
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 6 · 2023: 5 · 2022: 10 · 2021: 6 · 2020: 9 · 2019: 6 · 2018: 11 · 2017: 12 · 2016: 11 · 2015: 14 · 2014: 21 · 2013: 13 · 2012: 10
- FWCI
- 3.82
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Health Sciences › Medicine › Genetics (clinical) › Congenital Ear and Nasal Anomalies
- Keywords
- congenital hypothyroidism, congenital malformations, cardiac anomalies, multiple congenital anomalies, nervous system anomalies, ocular abnormalities, newborn screening, genetic etiology, thyroid development
- MeSH terms
- Congenital Abnormalities, Abnormalities, Multiple, Congenital Hypothyroidism, Eye Abnormalities, Female, Humans, Hypothyroidism, Infant, Infant, Newborn, Italy, Male, Nervous System Malformations, Registries, Incidence, Prevalence, Neonatal Screening
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