ESPE Abstracts

Since the first description of pseudohypoparathyroidism (PHP), a remarkable clinical variability, which translates in several PHP subtypes, was observed. In 2016 a new classification of this group of diseases have been published by the European Network on PHP and related disorders, proposing “inactivating PTH/PTHrP signaling disorder” (iPPSD) as a new term that encompasses all the clinical entities, stressing the common mechanism responsible for all diseases. iPPSDs ...

Background/aim: Hyperparathyroidism (HPHT) is a common feature in patients with X-linked hypophosphatemia (XLH) especially when treated with vitamin D analogues and phosphate supplements. Although the exact mechanism is not clear, it is assumed that phosphate supplements taken chronically stimulate parathyroid hormone (PTH) secretion. We prospectively assessed the effect of a novel pathogenetic treatment anti-FGF23 (burosumab) on PTH levels in children with XL...

Introduction: Pseudohypoparathyroidism (hereafter named iPPSD for inactivating PTH/PTHrP Disorder) is a rare disease characterized by hormonal resistance including PTH, subcutaneous ossifications, short stature, brachymetacarpy and early onset obesity. iPPSD type 2 and 3 are caused by genetic or epigenetic variations in the GNAS gene or its promoters. Although uncommon features have been identified such as severe asthma or sleep apnea, digestive manifestations...

Background: X-linked hypophosphatemia (XLH) is a rare disease caused by PHEX pathogenic variants leading to elevated fibroblast growth factor 23 (FGF23). FGF23 was shown to modulate the immune system. Excessive FGF23 signalling in mice with chronic renal disease results in deficient recruitment of neutrophiles in the infected tissues and to inadequate immune reaction against bacterial aggression (Rossaint et al). An increased risk for recurrent infect...

Background: Disproportionate short stature is seen in most individuals with X-linked hypophosphatemia (XLH). Vitamin D and phosphate supplementation can improve growth slightly. Burosumab showed minimal improvement of growth in older children. No growth data of XLH children that started burosumab at a very young age, i.e., between 1 and 4 years, are available.Methods: We included 17 XLH children (11 boys) who started bur...

Background: Pseudohypoparathyroidism 1A, newly classified as inactivating PTH/PTHrP signaling disorder type 2 (iPPSD2), is defined by resistance to parathyroid hormone, short stature and early-onset obesity. Short stature is caused by skeletal dysplasia and additionally, in some cases, also by the coexistence of growth hormone deficiency, as other hormonal resistances might be present (e.g. thyroid-stimulating hormone, growth hormone releasing hormone (GHRH), ...

Introduction: XLH is caused by mutations in PHEX leading to increased FGF23 levels, phosphate wasting, and impaired endogenous calcitriol synthesis. Affected patients present with rickets and diminished growth velocity during childhood, and osteomalacia and short stature in adulthood. Adult height is linked with health within and across generations suggesting that adult height may be a potential tool for monitoring health conditions, e.g., XLH.<p ...