ESPE Yearbook of Paediatric Endocrinology

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...

J Clin Endocrinol Metab. 2021 Mar 25:dgab190. doi: 10.1210/clinem/dgab190. PMID: 33765130. https://academic.oup.com/jcem/article-abstract/106/7/e2557/6188450?redirectedFrom=fulltextIn brief: This multicentre cohort study explores the frequency, long-term outcomes and potential p...

J Clin Endocrinol Metab. 2021; 106(2): e957–e965.https://pubmed.ncbi.nlm.nih.gov/33135723/The authors investigated the reproductive and perinatal outcomes in women with congenital adrenal hyperplasia (CAH) compared with control women in the largest such population-based study to date. Women with CAH had lower birth rates, were more likely to develop gestational diabetes, and had other ...

Pediatr Diabetes. 2020;21(8):1447–1456. doi: 10.1111/pedi.13122Family histories suggest strong degrees of inheritance of T1D in some children, especially in populations with an overall high risk of autoimmunity.This paper from the Finnish T1D Prediction and Prevention (DIPP) study looked at subjects carrying high HLA-conferred risk for T1D. A family history of T1D in...

Diabetes Care. 2020;43(10):2537–2543. doi: 10.2337/dc20-0736.This paper describes a randomized crossover trial in young people with T1D (16–24 years old) comparing two 8-week study periods: the factory-calibrated Dexcom G6 CGM system versus routine self-monitoring of blood glucose (SMBG). CGM improved time within glucose target and reduced HbA1c by 0.76%.The prim...

Diabetes Care. 2021 May;44(5):1185–1193. 10.2337/dc20-3006. https://pubmed.ncbi.nlm.nih.gov/33827804/Luo et al. performed a retrospective cohort study of 159 children (age 7–11 years), including undertaking a food cue task while in the MRI scanner, to investigate whether brain reward systems are altered by in utero exposure to ...

Sudan J Paediatr 2021;21:53–60. doi: 10.24911/SJP.106-1588448825– This paper describes the characteristics of 156 children and adolescents with hypopituitarism from 2 hospitals in Sudan– Congenital causes (86.5%) were more prevalent than acquired causes (13.5%)– Consanguinity was found in 77.8% of patients overall and 91% of patients with congenital aetiologies. The...

Human Reproduction, 2021; 36(7): 1948–1958https://bit.ly/3vtcByFThis cross-sectional study shows that men who had been exposed in utero to endocrine disruptors (EDC) are twice more likely to have a low sperm count, below the reference values per ejaculation set by the World Health Organisation.Male reproductive function is known to be highly sensitive to a number of chemical compou...

Pediatrics. 2021 Jul;148(1):e2020019000. doi: 10.1542/peds.2020-019000.Brief Summary: This case report of an infant with dysgenesis of the corpus callosum, whose whole genome sequencing (WGS) revealed variants of unknown significance (VUS) in ROBO1, demonstrates the potential of VUS in guiding clinical decisions.Next-generation sequencing (NGS) is increasingly...

J Clin Oncol. 2022 May 1;40(13):1439-1449. doi: 10.1200/JCO.21.01841. Epub 2022 Jan 19. PMID: 35044839Brief Summary: This retrospective study showed that children and young adults (< 45 years) treated with radioactive iodine (RAI) for primary Differentiated Thyroid Cancer (DTC) have increased risks for leukemia and solid cancers, particularly beyond 20 years after treatment.<p class="abs...