ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Lancet. 2019 Aug 17;394(10198):587–595. doi: 10.1016/S0140-6736(19)31255-3.These authors previously described that the measurement of copeptin, a peptide cleaved in the posterior pituitary from the protein precursor of vasopressin and stable in circulation, is an accurate tool to diagnose diabetes insipidus (DI; vasopressin insufficiency). However, the...

Eur Thyroid J. 2018;7:225-37. doi: 10.1159/000491388. Epub 2018 Jul 19https://www.ncbi.nlm.nih.gov/pubmed/30374425Diagnosis and treatment of central hypothyroidism are much more complex than for primary hypothyroidism. For the first time, guidelines summarize all the available evidence to provide a thorough state of...

Abstract: Nature. 2018 Sep;561(7722):195–200.In brief: This study used various cell-based methods and animal models to investigate the RANK-RANKL signaling pathway in bone homeostasis. The authors show for the first time, that reverse signaling exists from osteoclast to osteoblast and that vesicular RANK, secreted by the osteoclast, relays information to the osteoblast...

To read the full abstract: Eur J Endocrinol. 2018 Dec 1;179(6):373–380.This observational cohort study including children followed for central precocious puberty (CPP) in a single academic centre in Paris, France, identifies a large proportion of patients with complex disorders without structural hypothalamic lesions on MRI.Patients with CPP und...

To read the full abstract: Am J Med Genet A. 2019; 179(7):1205–1213.X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, with an estimated incidence in the USA of ~1:17,000 all births (male and female) and 1:21,000 male births. X-ALD is caused by mutations in the X chromosome gene ABCD1, which encodes the peroxisomal membrane protein, ATP-bin...

To read the full abstract: Cell 2017, Volume 171, Issue 2Here, the group of Jerrold Olefsky identified adipose tissue macrophages as important sources of microRNAs regulating metabolic processes not only within the adipose tissue depot, but also in an endocrine way in other distant tissues. The application of exosomes derived from ATMs isolated from obese mice caused insulin resistance both ...

Brief summary: This cohort study explored the potential link between self-reported age at puberty and markers of male fecundity.In this article, the authors explored pubertal timing as a determinant of male fecundity. This cohort study was based on the Danish National Birth Cohort which consisted of around 100 000 mother-child pairs recruited during 1996–2002. A little more than 1000 men aged 19 were evaluated for semen volume, sperm concentration, ...

Brief Summary: The SF1next study describes a cohort of 197 individuals with NR5A1 / SF-1 variants, identified through the I-DSD registry and a research network involving 55 centers across 18 countries. NR5A1/SF-1 plays a crucial role in the development and function of human sex and steroid producing organs, and variants in this gene can significantly affect early sex determination and differentiation. This can lead to a wide spectrum of differences i...

Brief Summary:This study tested the discriminatory role of 11-oxygenated androgens to diagnose PCOS in women with obesity, and with ( n =132) or without ( n =83) PCOS. No discriminatory role was found. Instead, insulin resistance, blood pressure, obesity and androgens were the principal components characterizing obese PCOS, while no major characteristic finding defined obese non-PCOS women.Numerous studies have addressed the mechanism o...

In Brief: This case report describes the successful use of RZ358, a novel human anti–insulin receptor monoclonal antibody therapy, in a patient with severe, refractory hypoglycaemia due to metastatic insulinoma.The tumour and resulting severe hypoglycaemia had been resistant to treatments with octreotide, lutetium Lu 177 dotatate radionuclide, diazoxide, everolimus, dexamethasone, pasireotide, and glucagon – and the patient, a 55-year old man w...