Lauffer Peter, van Trotsenburg A S Paul, Zwaveling-Soonawala Nitash
Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.
Eur J Pediatr. 2021 Jul;180(7):2333-2338. doi: 10.1007/s00431-021-03976-6. Epub 2021 Feb 13.
Screening for hypo- or hyperthyroidism in adults is generally done by measuring the serum thyrotropin (thyroid-stimulating hormone, TSH) concentration. This is an efficient approach in case of suspected acquired thyroid disease. However, in infants and children, congenital hypothalamus-pituitary-thyroid (HPT) axis disorders also need to be considered, including primary and central congenital hypothyroidism, and even rarer thyroid hormone receptor and transporter defects. In primary congenital hypothyroidism, TSH will be elevated, but in the other congenital HPT axis disorders, TSH is usually within the normal range. Free thyroxine (FT4) assessment is essential for the diagnosis in these conditions.Conclusion: Here we discuss a number of rare congenital HPT axis disorders in which TSH is normal, but FT4 is low, and provide a clinical algorithm to distinguish between these disorders. What is Known: • A single thyroid-stimulating hormone (TSH) measurement is an appropriate screening method for primary hypothyroidism. • For central hypothyroidism and rare thyroid hormone receptor and transporter defects a free thyroxine (FT4) measurement is essential for the diagnosis because TSH is usually normal. What is New: • Here we present a new problem-oriented clinical algorithm including a diagnostic flow-chart for low FT4 and normal TSH in infants and children.
成人甲状腺功能减退或亢进的筛查通常通过检测血清促甲状腺激素（甲状腺刺激激素，TSH）浓度来进行。对于疑似获得性甲状腺疾病，这是一种有效的方法。然而，对于婴儿和儿童，还需要考虑先天性下丘脑 - 垂体 - 甲状腺（HPT）轴疾病，包括原发性和中枢性先天性甲状腺功能减退，甚至更罕见的甲状腺激素受体和转运体缺陷。在原发性先天性甲状腺功能减退中，TSH会升高，但在其他先天性HPT轴疾病中，TSH通常在正常范围内。游离甲状腺素（FT4）评估对于这些情况的诊断至关重要。结论：在此我们讨论一些罕见的先天性HPT轴疾病，其中TSH正常但FT4低，并提供一种临床算法以区分这些疾病。已知信息：• 单次促甲状腺激素（TSH）测量是原发性甲状腺功能减退的合适筛查方法。• 对于中枢性甲状腺功能减退以及罕见的甲状腺激素受体和转运体缺陷，游离甲状腺素（FT4）测量对于诊断至关重要，因为TSH通常正常。新内容：• 在此我们提出一种新的以问题为导向的临床算法，包括针对婴儿和儿童FT4低且TSH正常的诊断流程图。
