ESPE Yearbook of Paediatric Endocrinology

Cell Metab. 2020 Dec 1;32(6):951–966.e8. 10.1016/j.cmet.2020.10.001. PMID: 33080217. https://www.sciencedirect.com/science/article/pii/S1550413120305349?via%3DihubIn brief: This study reveals the critical role of hypothalamic ceramide synthesis in the induction of precocious puberty in obe...

J Clin Invest. 2020 Aug 3;130(8):4486–4500. 10.1172/JCI136564. PMID: 32407292 https://www.jci.org/articles/view/136564In brief: This study in rats and non-human primate models investigated the mechanisms by which MKRN3 regulates pubertal onset in rats and non-human primates.Comment: Pubertal timing is in...

PrefaceFor this year’s chapter on ‘Adrenals’, we have searched the PubMed for articles on ‘adrenal’ or ‘steroidogenesis’ published in English between June 1, 2020 and May 31, 2021. 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 the...

Nat Commun. 2020;11(1): 2673.https://pubmed.ncbi.nlm.nih.gov/32471973/The authors conducted an experimental study in male human volunteers to examine the effects of a neurokinin type 1 receptor (NK1R) antagonist on aldosterone secretion. The findings show the presence of Substance P (SP)-positive nerve fibres in the human adrenal cortex in the vicinity of aldosterone-producing cells and wit...

Hum Mol Genet. 2020 Dec 18;29(20): 3443–3450.https://pubmed.ncbi.nlm.nih.gov/33089319/The authors performed an experimental study in Kiss1 knock-out mice, followed by an observational study of patients with adrenal tumors. The findings indicate that KISS1/KISS1R signaling may be involved in obesity, metabolic disorders and even gonadal steroid hormone perturbations.<p class="abstex...

J Clin Endocrinol Metab 2021; 106(5): e2063–e2077.https://pubmed.ncbi.nlm.nih.gov/33527139/The authors report the findings of a 6-month, randomized, phase 3 trial, with a single arm extension, to investigate the efficacy, safety and tolerability of modified release hydrocortisone (MC-HC) replacement therapy versus standard glucocorticoid replacement therapy in 122 adult patients with c...

Metabolism. 2020; 112: 154354.https://pubmed.ncbi.nlm.nih.gov/32916150/In order to better define treatment groups and improve treatment monitoring, the authors performed a retrospective metabotyping analysis using 24-h GC–MS urinary steroid metabolome measurements in young prepubertal children (n=109; age 7.0–1.6 years) with classical congenital adrenal hyperplasia (CAH) ...

J Clin Endocrinol Metab 2021; 106(3):814–825.https://pubmed.ncbi.nlm.nih.gov/33236103/Here, the authors performed a randomized, 12-week, crossover study in order to assess cortisol metabolism during dual-release hydrocortisone (DR-HC) and conventional hydrocortisone (TID-HC) therapy in patients with primary adrenal insufficiency (n=50). Healthy controls (n=124) were i...

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 ...

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...