Newborn screening for central congenital hypothyroidism: past, present and future.

IF 3.5 2区 医学 Q2 ENDOCRINOLOGY & METABOLISM
European Thyroid Journal Pub Date : 2025-02-19 Print Date: 2025-02-01 DOI:10.1530/ETJ-24-0329
Mark R Garrelfs, Christiaan F Mooij, Anita Boelen, A S Paul van Trotsenburg, Nitash Zwaveling-Soonawala
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Abstract

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.

中枢性先天性甲状腺功能减退症的新生儿筛查:过去,现在和未来。
先天性甲状腺功能减退症(CH)被定义为出生时甲状腺激素缺乏,是全世界可预防的智力残疾的最常见原因之一。中枢性CH是由垂体或下丘脑对甲状腺功能控制不足引起的,其生化特征是血清游离甲状腺素(fT4)低,并伴有低、正常或轻度升高的促甲状腺激素(TSH)。中枢性CH较原发性CH少见,在大多数情况下是多发性垂体激素缺乏(MPHD)的一部分。出生时的MPHD,也被称为“先天性垂体功能低下”,是一种潜在的危及生命的疾病,因为促肾上腺皮质激素和生长激素缺乏可能同时发生,导致严重的低血糖和肾上腺危机。迄今为止,中央CH是唯一适合新生儿筛查(NBS)的垂体激素缺乏症,为早期发现MPHD提供了机会。尽管最初的新生儿筛查(NBS)项目使用了基于t4的方法,能够识别中枢性CH,但由于与基于t4的策略相关的高假阳性率,大多数国家已经过渡到基于tsh的方法。现在,在引入NBS用于CH的50年后,世界上只有少数国家拥有能够检测中枢性CH的筛查计划。在本文中,我们回顾了NBS用于中枢性CH的过去,现在和未来。我们将概述早期检测中枢性CH的重要性,并讨论筛查这种疾病的挑战和机遇。
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来源期刊
European Thyroid Journal
European Thyroid Journal Medicine-Endocrinology, Diabetes and Metabolism
CiteScore
6.70
自引率
2.10%
发文量
156
期刊介绍: The ''European Thyroid Journal'' publishes papers reporting original research in basic, translational and clinical thyroidology. Original contributions cover all aspects of the field, from molecular and cellular biology to immunology and biochemistry, from physiology to pathology, and from pediatric to adult thyroid diseases with a special focus on thyroid cancer. Readers also benefit from reviews by noted experts, which highlight especially active areas of current research. The journal will further publish formal guidelines in the field, produced and endorsed by the European Thyroid Association.
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