ESPE Yearbook of Paediatric Endocrinology

Thyroid. 2020;30:1831–1833. doi: 10.1089/thy.2020.0293.Every year, we report on new genes that have been associated with congenital hypothyroidism. But it is the first time in all these years that, following the first description, other groups from different continents confirm the first reports in independent cohorts in such a short time after publication.This is ...

Thyroid. 2021:387–419. doi: 10.1089/thy.2020.0333.These updated ENDO-European Reference Network (ENDO-ERN), European Society for Paediatric Endocrinology (ESPE) and European Society for Endocrinology (ESE) guidelines for congenital hypothyroidism will serve as comprehensive review of the literature providing recommendations to all aspects of the disease.The first ...

J Clin Endocrinol Metab. 2020;105:dgaa415. doi: 10.1210/clinem/dgaa415.The optimal cut-off for neonatal screening has long been a matter of debate. The optimal balance between optimal detection of cases and increase of false positive patients is difficult to define. Also, in the most recent guidelines for congenital hypothyroidism (see previous paper in this chapter 3.7), no precise cut-off...

J Clin Endocrinol Metab. 2021;106:e1231–e1239. doi: 10.1210/clinem/dgaa901.The results of this study are a robust argument to implement neonatal screening for central congenital hypothyroidism (CCH) worldwide. Only few countries, such as the Netherlands, screen for CCH. Neurodevelopmental outcome data are scarce for CCH compared to primary congenital hypothyroidism (PCH) not only becau...

Thyroid. 2021;31:202–207. doi: 10.1089/thy.2020.0253.This study describes a new genetic thyroid disease that might be unnoticeable in individuals with normal thyroid synthetic capacity, but may cause harm in all patients who are dependent on levothyroxine substitution such as congenital hypothyroidism, acquired hypothyroidism, or post-thyroidectomy.Three iodothyro...

Eur J Endocrinol. 2020;183:637–645. doi: 10.1530/EJE-20-0617.This study provides for the first time clear evidence that the block and replace (BR) strategy (combination of carbimazole plus levothyroxine) is not superior to the carbimazole dose titration (DT) strategy for treatment of paediatric Graves’ disease.Wood et al. present the first randomized c...

Lancet Diabetes Endocrinol. 2020;8:594–605. doi: 10.1016/S2213-8587(20)30153-4.Groenenweg et al. present the so far largest retrospective multicentre cohort study on 151 patients with 73 different MCT8 (SLC16A2) mutations to compare and describe in detail the phenotypic spectrum and the disease course of MCT8 deficiency. The careful description of presenting cl...

Thyroid. 2020;30:1732–1744. doi: 10.1089/thy.2019.0825.This study is of importance, revealing a relevant clinical problem in patients under long-term levothyroxine (LT4) substitution and challenging the concept that all hypothyroid patients can be well controlled with LT4 monotherapy.Lacámara et al. present a small but elegant clinical study describi...

Nat Commun. 2020;11:4807. doi: 10.1038/s41467-020-18497-3.This interesting paper illustrates the potential of machine learning to improve the sensitivity and specificity of routine techniques in clinical practice if large cohorts for training and validation of models are used. Yu et al. present a transfer learning model (machine learning approach to solve research problems by r...

Endocr Rev. 2020;41:873–84. doi: 10.1210/endrev/bnaa022.Over the last decades, the treatment of Graves’ disease has been limited to antithyroid drugs, radioactive iodine ablation or surgery. Especially in the paediatric age group, all three therapeutic options have their advantages and side effects.New therapeutic options focus on the immune-pathophysiology ...