ESPE Yearbook of Paediatric Endocrinology

In brief: This article describes the functionalities of the Global ALPL gene variant classification project, which aims to reclassify variants of uncertain significance (VUS) in the ALPL gene and to continuously assess and update genetic, phenotypic, and functional variant information in hypophosphatasia.Commentary: Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in the alkaline phosphatase ( A...

Brief Summary:This study using mice and human models, shows that human gut bacteria Gordonibacter pamelaeae and Eggerthella lenta convert biliary corticoids into progestins through 21-dehydroxylation. It thereby shows that a class of immuno- and metabo-regulatory steroids are transformed into a class of sex hormones and neurosteroids. It also illustrates that gut hydrogen gas production is essential and sufficient to support this metabolic pathway, which is m...

In brief: This observational analysis, based on data from the Global Hypophosphatasia Registry, reports the clinical profiles, prior to initiation of asfotase alfa enzyme replacement therapy, in a large cohort of children with hypophosphatasia (n=151), by age (<6 months vs 6 months to 18 years) and geographic region (USA/Canada, Europe, and Japan).Commentary: Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in th...

To read the full abstract: Nature Communications, 2019; 10 (1); 662This paper highlights the brain as a key target for growth hormone (GH) signaling affecting mostly energy conservation. To identify GH response neurons, C57BL/6 mice received intraperitoneal injection of saline or GH and their brains were processed to detect the phosphorylation of pSTAT5 as a marker of GH receptor a...