Newborn screening for central congenital hypothyroidism: past, present and future
Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency at birth and constitutes one of the most common causes of preventable intellectual disability worldwide. Central CH is caused by insufficient pituitary or hypothalamic control of thyroid function, biochemically characterized by...
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Bioscientifica
2025-02-01
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| Series: | European Thyroid Journal |
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| author | Mark R Garrelfs Christiaan F Mooij Anita Boelen A S Paul van Trotsenburg Nitash Zwaveling-Soonawala |
| author_facet | Mark R Garrelfs Christiaan F Mooij Anita Boelen A S Paul van Trotsenburg Nitash Zwaveling-Soonawala |
| author_sort | Mark R Garrelfs |
| collection | DOAJ |
| description | Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency at birth and constitutes one of the most common causes of preventable intellectual disability worldwide. Central CH is caused by insufficient pituitary or hypothalamic control of thyroid function, biochemically characterized by a low serum free thyroxine (fT4), in combination with a low, normal or mildly elevated thyroid-stimulating hormone (TSH). Central CH is less common than primary CH and is part of multiple pituitary hormone deficiencies (MPHD) in most of the cases. MPHD at birth, also known as ‘congenital hypopituitarism’, is a potentially life-threatening condition due to the possible co-occurrence of adrenocorticotropin hormone and growth hormone deficiency that can result in severe hypoglycemia and adrenal crisis. To date, central CH is the only pituitary hormone deficiency suitable for newborn screening (NBS), providing an opportunity for early detection of MPHD. Even though the first NBS programs utilized T4-based methods that were able to identify central CH, most countries have since transitioned to TSH-based approaches due to the high rate of false positives associated with T4-based strategies. Now, 50 years after the introduction of NBS for CH, only a few countries around the world have a screening program capable of detecting central CH. In this paper, we review the past, present and future of NBS for central CH. We will outline the importance of early detection of central CH and discuss the challenges and opportunities of screening for this condition. |
| format | Article |
| id | doaj-art-7d4032413424415b9a70a7ecda8b7484 |
| institution | OA Journals |
| issn | 2235-0802 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Bioscientifica |
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| series | European Thyroid Journal |
| spelling | doaj-art-7d4032413424415b9a70a7ecda8b74842025-08-20T02:10:41ZengBioscientificaEuropean Thyroid Journal2235-08022025-02-0114110.1530/ETJ-24-03291Newborn screening for central congenital hypothyroidism: past, present and futureMark R Garrelfs0Christiaan F Mooij1Anita Boelen2A S Paul van Trotsenburg3Nitash Zwaveling-Soonawala4Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam University Medical Centers, University of Amsterdam and Vrije Universiteit, European Reference Network on Rare Endocrine Conditions (Endo-ERN), Amsterdam, The NetherlandsDepartment of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam University Medical Centers, University of Amsterdam and Vrije Universiteit, European Reference Network on Rare Endocrine Conditions (Endo-ERN), Amsterdam, The NetherlandsAmsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The NetherlandsDepartment of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam University Medical Centers, University of Amsterdam and Vrije Universiteit, European Reference Network on Rare Endocrine Conditions (Endo-ERN), Amsterdam, The NetherlandsDepartment of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam University Medical Centers, University of Amsterdam and Vrije Universiteit, European Reference Network on Rare Endocrine Conditions (Endo-ERN), Amsterdam, The NetherlandsCongenital hypothyroidism (CH) is defined as thyroid hormone deficiency at birth and constitutes one of the most common causes of preventable intellectual disability worldwide. Central CH is caused by insufficient pituitary or hypothalamic control of thyroid function, biochemically characterized by a low serum free thyroxine (fT4), in combination with a low, normal or mildly elevated thyroid-stimulating hormone (TSH). Central CH is less common than primary CH and is part of multiple pituitary hormone deficiencies (MPHD) in most of the cases. MPHD at birth, also known as ‘congenital hypopituitarism’, is a potentially life-threatening condition due to the possible co-occurrence of adrenocorticotropin hormone and growth hormone deficiency that can result in severe hypoglycemia and adrenal crisis. To date, central CH is the only pituitary hormone deficiency suitable for newborn screening (NBS), providing an opportunity for early detection of MPHD. Even though the first NBS programs utilized T4-based methods that were able to identify central CH, most countries have since transitioned to TSH-based approaches due to the high rate of false positives associated with T4-based strategies. Now, 50 years after the introduction of NBS for CH, only a few countries around the world have a screening program capable of detecting central CH. In this paper, we review the past, present and future of NBS for central CH. We will outline the importance of early detection of central CH and discuss the challenges and opportunities of screening for this condition.https://etj.bioscientifica.com/view/journals/etj/14/1/ETJ-24-0329.xmlcentral congenital hypothyroidismnewborn screeningmultiple pituitary hormone deficienciesthyroxinepituitary |
| spellingShingle | Mark R Garrelfs Christiaan F Mooij Anita Boelen A S Paul van Trotsenburg Nitash Zwaveling-Soonawala Newborn screening for central congenital hypothyroidism: past, present and future European Thyroid Journal central congenital hypothyroidism newborn screening multiple pituitary hormone deficiencies thyroxine pituitary |
| title | Newborn screening for central congenital hypothyroidism: past, present and future |
| title_full | Newborn screening for central congenital hypothyroidism: past, present and future |
| title_fullStr | Newborn screening for central congenital hypothyroidism: past, present and future |
| title_full_unstemmed | Newborn screening for central congenital hypothyroidism: past, present and future |
| title_short | Newborn screening for central congenital hypothyroidism: past, present and future |
| title_sort | newborn screening for central congenital hypothyroidism past present and future |
| topic | central congenital hypothyroidism newborn screening multiple pituitary hormone deficiencies thyroxine pituitary |
| url | https://etj.bioscientifica.com/view/journals/etj/14/1/ETJ-24-0329.xml |
| work_keys_str_mv | AT markrgarrelfs newbornscreeningforcentralcongenitalhypothyroidismpastpresentandfuture AT christiaanfmooij newbornscreeningforcentralcongenitalhypothyroidismpastpresentandfuture AT anitaboelen newbornscreeningforcentralcongenitalhypothyroidismpastpresentandfuture AT aspaulvantrotsenburg newbornscreeningforcentralcongenitalhypothyroidismpastpresentandfuture AT nitashzwavelingsoonawala newbornscreeningforcentralcongenitalhypothyroidismpastpresentandfuture |