ESPE Yearbook of Paediatric Endocrinology

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: Science. 2017; 357(6346)Current textbooks teach that adrenergic chromaffin cells of the adrenal medulla originate from a sympathoadrenal cell lineage of the neural crest nearby the dorsal aorta. Here, Furlan et al. demonstrate a novel origin of these neuroendocrine cells of the medulla arising predominantly from Schwamm cell precursors (SCP) of peripheral nerves. Prev...

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(4):1696-1703How we measure steroids has been a constant debate in recent years because current routinely used immunoassays lack both specificity and sensitivity. Therefore, chromatographic, mass spectrometric methods have been pushed forward for their higher sensitivity and specificity, and for their advantage to provide multiple measu...

To read the full abstract: Lancet Diabetes Endocrinol. 2018; 6(3): 173-185Adrenal insufficiency (AI), caused by adrenal failure (primary) or hypothalamo-pituitary failure (secondary), has a prevalence of 250–450 per 1 million (16). AI is potentially life-threatening and requires lifelong glucocorticoid replacement therapy. Modified-release hydrocortisone preparations have bee...

To read the full abstract: JCI Insight. 2018;3(2). pii: 98394The (human) adrenal cortex undergoes massive changes in structure and function from fetal to postnatal life, with the first consisting of a small outer definitive zone and a larger inner fetal zone, and the latter finally consisting of three distinct layers, namely the zona glomerulosa (ZG), fasciculata (ZF) and reticularis (ZR). Ho...

To read the full abstract: Cell Metab. 2018, 27, 689-701The gold standard for the determination of BAT activity is the measurement of glucose uptake upon cold exposure using [18F]-FDG PET/CT. However, due to the use of ionizing radiation, this technique cannot be used repeatedly in longitudinal studies in humans. Alternatively, magnetic resonance imaging (MRI) and near-infrared fluorescence ...

To read the full abstract: Cochrane Database Syst Rev 2017;6:CD012651Here, the authors report an update of a Cochrane review, which was first published in 2003, and last updated in 2009. However, given the complexity of the evidence, the current update is now split into 6 reviews addressing diff...

Brief summary: In recent years, generation of human organoids of different tissues from human embryonic stem cells have been realized, e.g. intestine, liver, and lung among others. In contrast, so far all attempts to generate fully mature and functional human thyroid follicular cells from stem cells was not successful. Romitti et al. present for the first time successful generation of transplantable and functional human thyroid organoids derived from human embryonic s...

Brief summary: Growth Hormone (GH)-Insulin-Growth-Factor-1 (IGF-1) axis plays the major role in promoting growth, but novel factors seem to modulate GH-IGF1 axis functioning. The majority of circulating IGF-1 and IGF-2 are bound to IGF-binding proteins (IGF-BPs) which prolong their half-life and regulate their tissue distribution (1,2). Pappalysins (PAPP-A, PAPP-A2) increase IGF-1 bioavailability through cleavage of IGFBPs and are inhibited by stanniocalcins (STC1, STC2) (3,4)...

In Brief: This phase 2 study investigated the effect of the RANKL inhibitor denosumab on fibrous dysplasia lesion activity, as well as the rebound in bone turnover after treatment discontinuation.Commentary: Denosumab is a humanized monoclonal antibody that inhibits RANKL with potent but transient antiosteoclastic effects, and discontinuation of denosumab treatment is associated with a rebound in bone turnover. In this study, eight women received high do...