ESPE Yearbook of Paediatric Endocrinology

Lancet Diabetes Endocrinol. 2020; 8(9): 748–761.https://pubmed.ncbi.nlm.nih.gov/32730798/The authors report the outcomes from the pivotal phase 3 trial in patients with Cushing’s disease of osilodrostat (a potent oral inhibitor of cytochrome P450 11B1, [mitochondrial 11β-hydroxylase]). Twice-daily osilodrostat rapidly reduced mean 24-h urine free cortisol (UFC) and sustained ...

Nat Commun. 2021 Feb 11;12(1):959.https://pubmed.ncbi.nlm.nih.gov/33574239/The authors report a genome-wide association study (GWAS) of autoimmune Addison’s disease (AAD) in 1223 cases (defined as autoimmune adrenal failure plus positive serum autoantibodies against 21-hydroxylase) and 4097 healthy controls. Patients with APS-1 were identified and excluded. They identified 9 genome-wid...

J Clin Endocrinol Metab. 2020; 105(9): 3103–3107.https://pubmed.ncbi.nlm.nih.gov/32629476/In this narrative review, the authors discuss the potential role of novel regenerative therapies for the treatment of adrenal insufficiency, including gene therapy and cell replacement strategies. More specifically, the authors discuss the heterogeneity in adrenal function in patients with Addison...

J Clin Endocrinol Metab. 2020; 105(8):dgaa340.https://pubmed.ncbi.nlm.nih.gov/32497228/Here, the authors investigated whether prenatal treatment with dexamethasone (DEX) in the first trimester is associated with alterations of brain morphology on MRI scans. Observed MRI alterations were not linked to any alterations in cognitive function or mood, but were associated with DNA methylation in ...

J Clin Endocrinol Metab. 2020;105(7): e2439-48.https://pubmed.ncbi.nlm.nih.gov/32433752/Here, the authors investigated the effects of dexamethasone (DEX) on metabolism in individuals without CAH but treated with DEX during the first trimester of fetal life. Prenatal DEX exposure was associated with decreased beta-cell function and higher cholesterol concentrations.Pre...

J Clin Endocrinol Metab. 2020 Dec 1;105(12): dgaa585.https://pubmed.ncbi.nlm.nih.gov/32844182/The aim of this histological study was to investigate DNA methylation and expression of genes encoding steroidogenic enzymes in benign adrenocortical tumors. The findings suggest that DNA methylation plays a regulatory role in CYP11B2 expression and may contribute to aldosterone hypersecretion in a...

J Steroid Biochem Mol Biol. 2020; 200:105684.https://pubmed.ncbi.nlm.nih.gov/32360359/In this mouse cell model, the authors show that metformin appears to directly inhibit signaling of MC2R (the ACTH receptor) and also MC3R.Metformin is used to treat type 2 diabetes and obesity, and may reduce the androgen excess in women with polycystic ovary syndrome (PCOS) or conge...

N Engl J Med. 2020; 383(13): 1248–1261.https://pubmed.ncbi.nlm.nih.gov/32966723/Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Patients with CAH have cortisol deficiency and in its most severe form, a potentially lethal aldosterone deficiency.In this review, the authors describe the c...

Nat Rev Endocrinol. 2020; 16(10): 578–589.https://pubmed.ncbi.nlm.nih.gov/32724183/In this review, the authors discuss the pathogenesis and treatment of primary aldosteronism (PA), the most frequent form of secondary hypertension (affecting 5% of patients with hypertension in primary care and 10–20% of those referred to specialist care). The pathophysiological basis of PA is auton...

PrefaceAs in previous years, most of the selected papers concern the medium and long-term complications of cancer therapy. Issues related to long-term surveillance strategies represent an emerging topic of discussion. In comparison with previous years, this year we have found few truly original and innovative studies. Rather, the attention of the researchers seems to be focused on confirming and consolidating acquired data, in particular:<p class="ab...