ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Endocrine. 2018 Jul; 61(1):76Hematopoietic stem cell transplantation (HSCT) is a curative treatment for life-threatening malignancies. However, late HSCT adverse effects cause substantial morbidity among long-term survivors. Metabolic complications, such as diabetes mellitus and hyperlipidemia, are the major late effects of pediatric HSCT, but the pathogenesis ...

Brief summary: Neonates of mothers suffering from Graves’ Disease during pregnancy are at risk for hyper- or hypothyroidism postnatally. The risk for hypothyroidism of neonates exposed to maternal anti-thyroid drugs until birth is unknown. This large retrospective study aimed at investigating 1) the incidence of hypothyroid neonates in a large cohort of mothers treated with anti-thyroid drugs until birth, and 2) identify a cutoff for maternal anti-thyroid drug doses assoc...

Brief summary: This observational study aimed at clarifying the contribution of pathogenic copy number variants (PCNVs) and candidate pathogenic variants in 86 children born small-for-gestational-age with short stature (SGA-SS).Approximately 10% of children born SGA do not show catch-up and remain permanently short (SGA-SS) (1,2). There is increasing evidence suggesting that genetic abnormalities underlie a high proportion of SGA-SS children. In this stu...

JAMA Pediatr. 2021;175(2):e205199. doi: 10.1001/jamapediatrics.2020.5199. PMID: 33346824This nationwide population-based study assessed the long-term risk of cardiovascular events in patients who had received rhGH therapy during childhood and adolescence. The study cohort comprised 3.408 subjects treated under the GHD, SGA or ISS indications, and 50 036 age-, sex-, and region-base...

Front Endocrinol (Lausanne). 2020; 11: 558897. https://pubmed.ncbi.nlm.nih.gov/33042019/This patient cohort study evaluated the prevalence of autoimmune thyroid diseases (AITDs), defined as decreased thyroid echogenicity in 61 children with Crohn’s disease, 25 infliximab (IFX)-naïve (control group) and 36 IFX-treated patients (mean duration of IFX therapy 13.9±16.6 months). T...

Obesity (Silver Spring) 2021 Jan;29(1):56–61.https://bit.ly/2Sz4SBzOxytocin was investigated in this small experimental study for its potential benefits on obesity. To test oxytocin for suppression of behavioural impulses, 10 men with overweight or obesity were subjected to a task assessing ability and strategy to suppress behavioural impulses. After receiving intranasal oxytocin, compared with placebo, ...

J Clin Endocrinol Metab. 2022 Jan 1;107(1):e246-e253. doi: 10.1210/clinem/dgab601. PMID: 34407200.Brief Summary: This retrospective single center study in neonates with hyperinsulinaemic hypoglycaemia examined the utility of real-time continuous glucose monitoring (CGM). CGM is best placed as an adjunct to routine intermittent blood glucose monitoring, providing information on glucose trends d...

Front Endocrinol (Lausanne). 2021 Jun 11;12:657873. doi: 10.3389/fendo.2021.657873. PMID: 34177802.Brief Summary: This is a single case report describing a possible new candidate gene (ADCY7) for congenital hyperinsulinism. Mutations in the ADCY7 gene may be a new cause of congenital hyperinsulinism but more cases are needed and the molecular mechanisms studied in more det...

Stem Cell Res. 2021 Jul;54:102433. doi: 10.1016/j.scr.2021.102433. PMID: 34171785.Brief Summary: This study generated induced pluripotent stem cells (iPSCs) from a patient with permanent neonatal diabetes mellitus (PNDM) due to Fanconi-Bickel syndrome. This iPSC line provides a novel human cell model to understand the pathophysiology of FBS and diabetes mellitus and for the potential of dev...

J Clin Endocrinol Metab. 2021 Nov 19;106(12):e5075-e5087. doi: 10.1210/clinem/dgab528. PMID: 34272865.Brief Summary: This national birth registry study in Denmark collected data on gestational diabetes and adverse pregnancy outcomes in relation to country of origin of the mother. Country of origin and the number of births were associated with adverse effects from gestational diabetes.<p cl...