ESPE Yearbook of Paediatric Endocrinology

Lancet Diabetes Endocrinol. 2021; 9(12):876-892. PMID: 34798068https://pubmed.ncbi.nlm.nih.gov/34798068/Brief Summary: This review summarizes the current knowledge on the epidemiology, genetic background, pathophysiology, clinical presentation, diagnosis and treatment of primary aldosteronism.This review article on primary aldosteronism (PA) describes its clinical char...

Brief summary: This narrative review summarizes the important progress made in the past 10 years in our understanding of the genetics of primary bilateral macronodular adrenal hyperplasia (PBMAH).Primary bilateral macronodular adrenal hyperplasia (PBMAH) is an adrenal cause of Cushing syndrome, attributed to the disrupted integrity of the adrenal cortex zonation that is important for steroidogenesis (1). Nowadays, the diagnosis of PBMAH ...

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(7): 2985–2993. PMID: 30844071.Endogenous Cushing syndrome (CS) is a severe condition characterized by excessive glucocorticoid production (1). In 20% of cases, cortisol is secreted autonomously by the adrenal cortex (2). Adrenal CS is mostly caused by unilateral cortisol-producing adrenal ad...

To read the full abstract: J Clin Endocrinol Metab. 2019; pii: jc.2019–00563.Primary aldosteronism (PA) is one of the most common causes of secondary hypertension, affecting ~6% of the adult general hypertensive population. Patients with PA are at increased risk of cerebrovascular and cardiovascular morbidity, renal abnormalities and metabolic syndrome. The activity of mTORC1 ...

J Clin Endocrinol Metab. 2021 Mar 25;106(4):1111–1128.https://pubmed.ncbi.nlm.nih.gov/33382876/In this multicentre patient cohort study, the authors investigated the use of targeted metabolomics to discriminate primary hypertension (PHT) from endocrine forms of hypertension (EHT). They identified 16 metabolites that help to discriminate between PHT and EHT.Arteri...

Brief summary: This genome-wide association study (GWAS) reports the first genetic loci for risk of primary aldosteronism. New candidate genes and their potential mechanisms for the development of aldosterone excess are described.Primary aldosteronism (PA) is the most frequent form of secondary hypertension (5% of patients with hypertension in primary care and 10–20% of patients with hypertension referred to specialist care). PA is associated with c...