Endocrine Abstracts

Since the first description of pseudohypoparathyroidism (PHP) a remarkable clinical variability 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. PHP and related disorders vary in clinical presentation and disease severity, and clinical features usually deve...

Since the first description of inactivating PTH/PTHrP signaling disorders (iPPSDs, historically named pseudohypoparathyroidism (PHP)) a remarkable clinical variability was observed, especially in clinical presentation, which seems to be age-dependent. The main clinical features, including PTH resistance, brachydactyly and short stature, develop during mid and late childhood, whilst minor clinical features such as a round face, rapid weight gain and subclinical hypothyroidism a...

Objectives: X-linked hypophosphatemic Rickets (XLHR) is characterized by phosphate wasting and decreased production of 1,25OH-vitamin D, due, in most patients, to elevated FGF23 and PHEX mutation. In children, the disease has been extensively studied because of the devastating presentation of rickets, teeth abcesses, and growth retardation. In adults, however, metabolic complications, such as hyperparathyroidism or consequences on glucose and lipid metabolism of FGF23 excess, ...

Background/aim: X-linked hypophosphatemia (XLH) is a rare disease characterized by low phosphate level. Scientific evidence points to link between hypophosphatemia and obesity in general population. The aim of our longitudinal observational study was to investigate the prevalence of obesity and associated factors in a large cohort of children with XLH.Patients/methods: We selected 172 XLH-children of 5-20 years (113 girls/59 boys). Anthropometric paramet...

Background: X-linked hypophosphatemia (XLH) is a rachitic disorder characterized by renal tubular phosphate wasting resulting from increased circulating activity of the fibroblast growth factor FGF23. Secondary and tertiary hyperparathyroidism have been reported in XLH patients in small retrospective studies, however this complication has never been systematically evaluated in a large cohort.Aim of the study: To compare parathyroid function of adult XLH ...

Background/aim: Burosumab is a monoclonal antibody against anti-FGF23, which has been recently approved for the treatment of X-linked hypophosphatemia (XLH). Beyond clinical trials, little is known about its efficacy/safety in clinical practice which is the aim of the present study.Patients/methods: Thirty-nine children with XLH were switched from conventional therapy to burosumab (starting dose 0.4 mg/kg), on the basis of following indications: non-resp...

Background/Aim: X-linked hypophosphatemia (XLH) is a rare disease caused by PHEX mutation, leading to elevated FGF23, renal phosphate wasting, hypophosphatemia, insufficient 1,25(OH)2D synthesis. Clinically, it manifests with rickets including leg deformities, poor growth, dental abscesses, craniosynostosis, and hearing loss. Beyond conventional treatment (phosphate supplements + active vitamin D), burosumab is pathogenetic anti-FGF23 therapeutic approa...

Pseudohypoparathyroidism (PHP) and related disorders lead to a wide spectrum of abnormal physical characteristics, neurocognitive and endocrine abnormalities that share a common PTH/PTHrP signaling pathway. The clinical and molecular overlap of PHP and related disorders lead to difficulties in clinical and molecular diagnosis which prompt to the possibility of incorrect management of these patients. PHP (including all subtypes), pseudoPHP, acrodysostosis and progressive osseou...