ESPE Yearbook of Paediatric Endocrinology

Brief summary: This is the first multi-national phase 2 dose finding trial aimed at investigating efficacy and safety of the long acting GH (Somapacitan) with daily GH in short children born SGA. 62 GH treatment-naïve short children born SGA were enrolled in the study. Efficacy was valuated with estimated mean annualized height velocity (HV) after 26 weeks of follow-up. Somapacitan showed similar efficacy of daily rhGH. The study will be extended for further 4 years in or...

In Brief: Clinical symptoms of Pseudohypoparathyroidism (PHP) and related disorders present during late childhood and adulthood. This study found that newborns with this group of conditions require specific care at birth due to increased risk of neonatal complications.Commentary: Pseudohypoparathyroidism (PHP) and related disorders, newly referred to as inactivating PTH/PTHrP signalling disorders (iPPSD), are rare endocrine diseases. Their many clinical ...

In Brief: Hypophosphatasia is a clinically heterogenous disorder. By analysing observational data on 215 children (54.4% girls) with hypophosphatasia from the Global Hypophosphatasia Registry, the authors found growth impairment in patients aged <2 years. However, short stature was not a characteristic feature of children with hypophosphatasia, and height was not correlated with disease severity.Commentary: Hypophosphatasia is an inborn error of meta...

To read the full abstract: N Engl J Med 2018;378:1987-1998FGF-23 is the primary regulator of phosphate homeostasis and acts by inhibiting phosphate reabsorption in the kidney (1). Loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homolog X-linked (PHEX) results in excess circulating FGF-23, which impairs renal phosphate reabsorption causing hypophosphatemia...

Science Advances, 2021,7:eabj5018 doi: 10.1126/sciadv.abj5018Brief Summary: The authors developed a liver-targeting adeno-associated virus (AAV) vector carrying C-terminal FGF23 (cFGF23) to inhibit FGF23 signalling in a mouse model for X-linked hypophosphataemic rickets (hyp-duk mice). They were able to show that a single injection of AAV cFGF23 rescued the hyp-duk phenotype.<p class="abst...

Nat Rev Nephrol. 2019 May 8. doi: 10.1038/s41581-019-0152-5. [PMID: 31068690].Abstract: www.ncbi.nlm.nih.gov/pubmed/?termZ31068690In brief: In this Evidence-Based Guideline on X-linked hypophosphataemia, the authors identify the criteria for diagnosis of this disease, provide guidance for medi...

In Brief: This is a timely and well-written review on disorders of biomineralization and their fundamental mechanisms and by leading experts in the field. This is mandatory reading for any aspiring endocrinologist.Commentary: Biomineralization is a critical physiological process, and deviations from it can cause various diseases. Recent progress has furthered our understanding of the genetic, molecular, and cellular underpinnings of the disorders of biom...

Brief summary: This study reports data from the full Kabi/Pfizer International Growth Database (KIGS), a large international database including 83803 children treated with rhGH for GHD and non-GHD conditions. The data confirm that rhGH is effective in increasing short-term height gain and adult height in various conditions and validate rhGH safety, with no new serious adverse events reported.KIGS (Kabi/Pfizer International Growth Database), first establi...