hrp0089s7.1 | Bone | ESPE2018

X-linked Hypophosphataemic Rickets: Disease and Treatment

Linglart Agnes

XLH is a dominant disorder with a prevalence of approximately 1.7/100,000 children to 4.8/100,000 persons. PHEX, the gene responsible for XLH was identified on chromosome Xp22. It codes for a cell surface-bound protein-cleaving enzyme expressed predominantly in bone and teeth. The altered function of PHEX causes both the mineralization defect and the renal phenotypic abnormalities of XLH. Clinical manifestations of XLH occur most often around the age of walki...

hrp0082s1.3 | Disorders of Gsalpha Signaling | ESPE2014

New Therapies in Metabolic Bone Disease: PTH

Linglart Agnes

Hypoparathyroidism is a rare disease manifesting as hypocalcemic seizures, developmental delay, sluggishness, paresthesias and/or dyskinesia. Symptoms reveal hypocalcaemia associate with increased serum phosphorus and undetectable, low or unadapted PTH levels. Known causes of hypoparathyroidism are cervical surgeries causing irreversible damage to the parathyroid tissue, toxic attack of the parathyroid cells by antibodies, and genetic defects affecting parathyroid development,...

hrp0086p2-p641 | Growth P2 | ESPE2016

Hypochondroplasia (HC) Treatment with rGH: Actualization of Pilot Observations

Bougneres Pierre , Linglart Agnes

Background: In patients with HC due to N540K FGFR3 mutations, adult height ranges 138–155 cm (men) and 128–145 cm in women. We have previously reported that a mean 0.075 μg/k.d rGH dose could allow a gain of 1.9 S.D. of height over 6.1 year and could reduce body disproportion in 6 young patients (Journal of Pediatrics 2012).Objectives: To confirm these results and extend observation of rGH effects.<p class="abst...

hrp0094p2-27 | Adrenals and HPA Axis | ESPE2021

High doses op’-DDD cause metrorragia in young girls

Thomas-Teinturier Cecile , Bouvattier Claire , Linglart Agnes ,

Gynecomastia is a well-known effect of treatment with op’-DDD in male adults. Metrorragia in young girls is a less known effect because only a few children receive this drug, mostly for bad prognosis adrenocortical carcinoma. Moreover, it has been reported that op’DDD causes precocious puberty, but cases are not well documented. We report 2 cases of young girls receiving high-dose op’-DDD who presented recurrent metrorragia. Case 1: An 18 month old girl was diag...

hrp0086fc2.1 | Bone &amp; Mineral Metabolism | ESPE2016

Characterization of GNAS miRNAs Targets: Trying to Better Understand the Pathophysiology of Pseudohypoparathyroidism 1B (PHP1B)

Hanna Patrick , Netchine Irene , Le Stunff Catherine , Linglart Agnes

Background: Patients affected with PHP1B are characterized by resistance to PTH which binds to the PTH receptor and activate the cAMP/Gsa signaling pathway. Gsa is encoded by GNAS, a locus subjected to genomic imprinting. PHP1B patients present with abnormal methylation at the maternal A/B promoter and, in some cases, at the other promoters (XLas, GNAS-AS1 and NESP55) of the GNAS locus, likely leading to a decreased express...

hrp0086p1-p101 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Effect of Bisphosphonates on Bone Fragility Due to Chronic Liver Disease in Ten Children

Gonzales Emmanuel , Darce Martha , Usardi Alessia , Linglart Agnes

Background: Children suffering from chronic liver disease (CLD) may develop rickets, impaired bone mineralization and are exposed to an increased risk of osteoporotic fractures. Bisphosphonate (BP) is used in children to increase the bone density and reduce the fracture incidence. Up to date, no study showing the effect of this treatment in children suffering from CLD has been reported.Objective and hypotheses: Evaluate the effect of BPs in children with...

hrp0086p2-p151 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Progressive Development of PTH Resistance in Patients with Maternal GNAS Inactivating Mutations

Usardi Alessia , Mamoune Asmaa , Nattes Elodie , Rothenbuhler Anya , Linglart Agnes

Background: Pseudohypoparathyroidism (PHP) is a group of disorders characterized by end-organ resistance to the parathyroid hormone (PTH). PHP type 1A is caused by mutations in GNAS exon 1 through 13 with multihormone resistance (PTH, TSH and gonadotropins), Albright’s hereditary osteodystrophy, and obesity. However, patients often do not present with elevated levels of PTH until after the first years of life.O...

hrp0082p3-d3-698 | Bone (2) | ESPE2014

TSH/fT4 Ratio as a Marker of TSH Resistance in Pseudoparathyroidism 1A and Obesity

Alimi Aurelia , Rodrigue Danielle , Linglart Agnes , De Filippo Gianpaolo

Introduction: Gsα is imprinted in human thyroid glands and this appears to be important in the development of moderate TSH resistance in pseudohypoparathyroidism (PHP) 1A and less severe TSH resistance in some, but not all, other forms of PHP. Obesity is a clinical condition in which subclinical alterations of thyroid function have been reported, although the relationship between thyroid status and obesity remains unclear. It is uncertain if this biochemical abnormality m...

hrp0089p2-p043 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Metabolic Syndrome in Children with X-linked Hypophosphatemic Rickets (XLHR)

Lambert Anne-Sophie , Saadeddine Sanaa , Rothenbuhler Anya , Ussardi Alessia , Trabado Severine , Linglart Agnes

Introduction: X-linked hypophosphatemic rickets (XLHR) is due to mutations in the PHEX gene inducing increased levels of fibroblast growth factor 23 (FGF23), phosphate wasting, hence rickets. FGF23 is suspected to be as an important metabolic regulator of glucose and lipid metabolism.Objective: To describe the metabolic profile (body mass index, blood pressure, glucid and lipid profile) in patients with XLHR and evaluate the correlation between FGF23 lev...

hrp0089p2-p044 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

High Incidence of Cranial Synostosis and Chiari Malformation in Children with X-linked Hypophosphatemic Rickets

Rothenbuhler Anya , Bacchetta Justine , Fadel Nathalie , Lambert Anne Sophie , Adamsbaum Catherine , Linglart Agnes , Rocco Federicco Di

Background: X-linked hypophosphatemic rickets (XLH) represents the most common form of hypophosphatemia and leads to vitamin D resistant rickets in children. Even though cranial vault and craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation- have been observed in XLH patients their actual incidence is not established.Aim: Describe and analyze the incidence of cranial and...