Primary congenital hypothyroidism: a clinical review
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder. It is one of the clinical conditions that has benefited most from the introduction of newborn screening 50 years ago, as clinical management has changed and long-term consequences have been significantly reduced. In areas...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2025-08-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2025.1592655/full |
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| author | Paolo Cavarzere Valentina Mancioppi Riccardo Battiston Valentina Lupieri Anita Morandi Anita Morandi Claudio Maffeis Claudio Maffeis |
| author_facet | Paolo Cavarzere Valentina Mancioppi Riccardo Battiston Valentina Lupieri Anita Morandi Anita Morandi Claudio Maffeis Claudio Maffeis |
| author_sort | Paolo Cavarzere |
| collection | DOAJ |
| description | Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder. It is one of the clinical conditions that has benefited most from the introduction of newborn screening 50 years ago, as clinical management has changed and long-term consequences have been significantly reduced. In areas where neonatal screening is active, most affected patients show a clinically normal phenotype and/or only mild symptoms. At the same time, thanks to a progressive reduction in the TSH level used as cut-off for neonatal screening, the number of cases of CH with gland in situ is increasing, while the number of patients with abnormal thyroid development has remained essentially unchanged over time. Furthermore, important changes are observed in managing patients with CH and gland in situ. On the one hand, they are subjected to genetic investigations to understand the underlying molecular mechanism; on the other hand, a reassessment of thyroid function is suggested starting from the sixth month of life if their L-thyroxine requirement is low. This review aims to describe the clinical approach to CH and to optimize the management and treatment of this disease. |
| format | Article |
| id | doaj-art-b2eba59a0f664a978cad9d221a0d919f |
| institution | Kabale University |
| issn | 1664-2392 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj-art-b2eba59a0f664a978cad9d221a0d919f2025-08-20T03:59:36ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922025-08-011610.3389/fendo.2025.15926551592655Primary congenital hypothyroidism: a clinical reviewPaolo Cavarzere0Valentina Mancioppi1Riccardo Battiston2Valentina Lupieri3Anita Morandi4Anita Morandi5Claudio Maffeis6Claudio Maffeis7Department of Mother and Child, Pediatric Unit B, University Hospital of Verona, Verona, ItalyDepartment of Mother and Child, Pediatric Unit B, University Hospital of Verona, Verona, ItalyDepartment of Mother and Child, Pediatric Unit B, University Hospital of Verona, Verona, ItalyDepartment of Mother and Child, Pediatric Unit B, University Hospital of Verona, Verona, ItalyDepartment of Mother and Child, Pediatric Unit B, University Hospital of Verona, Verona, ItalyDepartment of Surgery, Dentistry, Gynecology and Pediatrics, Section of Pediatric Diabetes and Metabolism, University of Verona, Verona, ItalyDepartment of Mother and Child, Pediatric Unit B, University Hospital of Verona, Verona, ItalyDepartment of Surgery, Dentistry, Gynecology and Pediatrics, Section of Pediatric Diabetes and Metabolism, University of Verona, Verona, ItalyCongenital hypothyroidism (CH) is the most common neonatal endocrine disorder. It is one of the clinical conditions that has benefited most from the introduction of newborn screening 50 years ago, as clinical management has changed and long-term consequences have been significantly reduced. In areas where neonatal screening is active, most affected patients show a clinically normal phenotype and/or only mild symptoms. At the same time, thanks to a progressive reduction in the TSH level used as cut-off for neonatal screening, the number of cases of CH with gland in situ is increasing, while the number of patients with abnormal thyroid development has remained essentially unchanged over time. Furthermore, important changes are observed in managing patients with CH and gland in situ. On the one hand, they are subjected to genetic investigations to understand the underlying molecular mechanism; on the other hand, a reassessment of thyroid function is suggested starting from the sixth month of life if their L-thyroxine requirement is low. This review aims to describe the clinical approach to CH and to optimize the management and treatment of this disease.https://www.frontiersin.org/articles/10.3389/fendo.2025.1592655/fullcongenital hypothyroidismthyroid glandnewborn screening for congenital hypothyroidismdyshormonogenesisdysgenesis |
| spellingShingle | Paolo Cavarzere Valentina Mancioppi Riccardo Battiston Valentina Lupieri Anita Morandi Anita Morandi Claudio Maffeis Claudio Maffeis Primary congenital hypothyroidism: a clinical review Frontiers in Endocrinology congenital hypothyroidism thyroid gland newborn screening for congenital hypothyroidism dyshormonogenesis dysgenesis |
| title | Primary congenital hypothyroidism: a clinical review |
| title_full | Primary congenital hypothyroidism: a clinical review |
| title_fullStr | Primary congenital hypothyroidism: a clinical review |
| title_full_unstemmed | Primary congenital hypothyroidism: a clinical review |
| title_short | Primary congenital hypothyroidism: a clinical review |
| title_sort | primary congenital hypothyroidism a clinical review |
| topic | congenital hypothyroidism thyroid gland newborn screening for congenital hypothyroidism dyshormonogenesis dysgenesis |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2025.1592655/full |
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