Endocrine Abstracts

Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of rare metabolic disorders characterized by hypocalcemia and hyperphosphatemia due to PTH resistance. Heterozygous loss of function mutations in the gene encoding the alpha-subunit of Gs (GNAS) inherited from the mother lead to PHP type Ia. PHP type Ia (PHP-Ia) is a disease in which the physical features (short stature, obesity, round face, brachydactyly and subcutaneous ossifications) that constitute Albri...

Aneurysmal bone cysts (ABCs) are rare pseudotumoral bone lesions with potential aggressive behavior due to the extensive destruction of surrounding bone. Besides surgery, denosumab has been investigated as a treatment for benign fibro-osseous lesions. As for ABCs, pediatric experience is limited, reporting mainly beneficial effects on lesions growth and associated pain. Some reports included well known side effects associated with denosumab, such as the rebound hypercalcemia a...

Introduction: In chronic hypoparathyroidism (cHP), hypercalciuria is frequent, the mechanism of which remains unclear. The repetition of episodes of urinary tract obstruction by lithiasis can play a key role in the progressive deterioration of renal function. Taking advantage of the prospective cohort Epi-Hypo, we examined the relationship between nephrolithiasis and hypercalciuria.Methods: The Epi-Hypo cohort started in 2016 in France and is still activ...

Introduction: In Chronic hypoparathyroidism (cHP), secretion of parathyroid hormone (PTH) is insufficient to maintain blood calcium concentration (PCa) steady. More than 70% of cases result from neck surgery and therefore in insufficient secretion of PTH as in mutations of genes involved in PTH synthesis, while mutations of the calcium-sensing receptor (CaSR) and its signaling pathway may result in a remaining secretion of PTH. cHP can exert nephrocalcinosis and/or nephrolithi...

Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by deficient activity of tissue nonspecific alkaline phosphatase (TNSALP).Methods: Baseline/pretreatment data from the Global HPP Registry were analyzed to compare HPP disease burden between adults (≥18 years of age) with skeletal manifestations (history of rickets, biopsy-proven osteomalacia, recurrent or poorly healing fractures/pseudofractures, etc; Skeletal group) ...

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 ...

The clinical condition resulting from end-organ resistance to parathormone (rPTH), caused by (epi)genetic alterations of GNAS, was termed as Pseudohypoparathyroidism (PHP). The high phenotype heterogeneity, the existence of additional clinical features such as resistance to other hormones (TSH/GHRH/gonadotropins) and Albright’s hereditary osteodystrophy (AHO), led to the distinction of specific PHP subtypes.The purpose of the present work is to prov...

In XLH, high circulating FGF23 causes hypophosphatemia, rickets, and short stature. In our Phase 2 study, 52 XLH children (ages 5–12 years, ≤Tanner 2) were randomized to receive KRN23 subcutaneously biweekly (Q2W) or monthly (Q4W). Serum phosphate (Pi) was measured biweekly. KRN23 dose was titrated (maximum 2 mg/kg) targeting age-appropriate serum Pi concentrations.The first 36 subjects had a mean 6.6 years of standard-of-care treatment before...

IntroductionThe European Registries for Rare Endocrine Conditions (EuRRECa) project was launched in February 2018 and aims to support the needs of the endocrine and bone community by facilitating the collaboration between patients, health care professionals and researchers across Europe and beyond. It is closely linked to the European Reference Networks on Rare Endocrine Conditions (Endo-ERN) and Rare Bone Diseases (ERN BOND) with its registry EuRR-Bone....