ESPE Yearbook of Paediatric Endocrinology

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...

P8.For this year’s chapter on ‘Adrenals’, we have searched the PubMed for articles on ‘adrenal’ or ‘steroidogenesis’ published in English between June 1, 2017 and May 31, 2018. Our search yielded more than 5,000 citations. We have examined all citations individually and selected the following collection of basic research and clinical articles. Whenever possible, we have avoided topics that have been discussed in ...

To read the full abstract: Front Endocrinol (Lausanne). 2018 Apr 4;9:142Here, Martinez de LaPiscina et.al. investigated gene-gene interactions in 46,XY DSD. GATA4 is known to be associated with 46,XY DSD and has also been described to cause congenital heart defects. The authors characterize 3 individuals with 46,XY DSD, and GATA4 variants; 1 patient with and 2 without congenital heart defects....

To read the full abstract: Nat Rev Endocrinol. 2018 May 16[Comments on 6.19 and 6.20] These two publications, a review and a consensus statement, are especially useful in the clinical care for individuals with disorders affecting the sex development, albeit in different ways. Since the Chicago consensus in 2005, the knowledge of the ...

To read the full abstract: Nat Genet. 2018; 50(3): 355-361[Comments on 8.1 and 8.2] Primary aldosteronism (PA) is the most common form of secondary hypertension, affecting 3–5% of the general hypertensive population and 8–10% of patients referred to specialist hypertension services, although it is very rare in children (...

To read the full abstract: Eur J Endocrinol. 2018 Apr;178(4):377-388[Comments on 7.7 and 7.8] Familial self-limited delayed puberty is highly heritable and has a clear genetic basis as described in the review written by Sasha Howard. Recent studies suggest that the genetic basis of self-limited delayed puberty is likely to be highly heteroge...

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...