hrp0089p3-p067 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Neonatal Hypocalcemia Revealing a Malignant Osteopetrosis

Porquet-Bordes Valerie , Gohier Heloise , Lescure Sandra , Pasquet Marlene , Baunin Christiane , Gennero Isabelle , Tauber Maite , Salles Jean Pierre , Edouard Thomas

Background: A one-month girl was referred to our unit for hypocalcemia. She was the first child of healthy non-consanguineous parents. Her family history was unremarkable except a miscarriage in the mother and oligoasthenospermia in the father that justified a medically assisted reproduction. She was born eutrophic at term after a pregnancy marked by a moderate gestational diabetes. On day 3, a routine neonatal screening revealed a severe asymptomatic hypocalcemia (total calci...

hrp0086p1-p98 | Bone & Mineral Metabolism P1 | ESPE2016

Knock in of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-dependent Protein Kinase A Activation: A Model of Acrodysostosis Type 1?

Le Stunff Catherine , Tilotta Francoise , Sadoine Jeremy , Le Denmat Dominique , Clauser Eric , Bougneres Pierre , Chaussain Catherine , Silve Caroline

Background: In humans, activating mutations in the PRKAR1A gene cause acrodysostosis1 (ACRDYS1). Two striking features of this rare developmental and skeletal disorder are renal resistance to PTH and chondrodysplasia resulting from the constitutive inhibition of PTHR1/Gsa/AC/cAMP/PKA signaling caused by the PRKAR1A mutations.Objective and hypotheses: Document the consequences of the germline expression of a PRKAR1A mutation causing a dominant repression ...

hrp0086p1-p209 | Diabetes P1 | ESPE2016

Association between Hypothalamus–Pituitary Adrenal Axis Activity and Anxiety in Prepubertal Children with Type 1 Diabetes

Barat Pascal , Brossaud Julie , Bereron Aude , Corcuff Jean-Benoit , Moisan Marie-Pierre , Lacoste Aurelie , Vautier Vanessa , Savel Helene , Perez Paul

Background: Animal models of insulin-dependent diabetes show hyperactivity of hypothalamus–pituitary adrenal (HPA) axis, independently of hypoglycaemia. Few data exists regarding type 1 diabetes (T1D) in children.Objective: To describe HPA axis activity according to the anxiety levels in prepubertal T1D children.Method: Prepubertal T1D children and siblings of T1D children (controls) were included. State-Trait Anxiety Inventor...

hrp0086p2-p385 | Gonads & DSD P2 | ESPE2016

A Familial form of DSD due to NR5A1 Mutation in a Father and His Son

Gay Claire-Lise , Gorduza Daniela , Brac de la Perriere Aude , Plotton Ingrid , Mouriquand Pierre , Nicolino Marc , Morel Yves

Background: NR5A1 mutations in 46,XY patients lead to various degrees of disorders of sex development (DSD). Familial cases have been described where the mother (heterozygous for the mutation) presented primary ovarian failure. Little is known about testicular function at puberty but most patients have biological markers of gonadal dysgenesis, raising fears of infertility.Objective and hypotheses: To describe a familial form of DSD due to NR5A1 mutation ...

hrp0084p1-152 | Miscelleaneous | ESPE2015

Noonan Syndrome-Causing SHP2 Mutants Inhibit Murine Growth Plate Chondrogenesis and Bone Development: Role of Ras/MAPK Hyperactivation

Yart Armelle , Tajan Mylene , Capilla Florence , Beton Nicolas , Davignon Jean-Luc , Tauber Maithe , Salles Jean-Pierre , Edouard Thomas

Background: Growth retardation affects more than 80% of patients with Noonan syndrome (NS; MIM#163950), one of the most common developmental disorders, but its origin remains poorly understood. We have demonstrated that mutations of the tyrosine phosphatase SHP2, that are responsible for half the cases of NS, impair the systemic production of Insulin-like growth factor 1 (IGF1), the biological mediator of GH acting on growth plate, through a hyperactivation of the Ras/Mitogen-...

hrp0084p3-1002 | Gonads | ESPE2015

Leydig-Cell Tumour, a Rare Cause of LH-Independent Sexual Precocity in Boys

Gerard Maxime , Thomas-Teinturier Cecile , Bouvattier Claire , Mantel Anne , De Lambert Guenolee , Beaudoin Sylvie , Mussini Charlotte , Pierre Bougneres

Background: Leydig-cell tumours in children are rare, comprising only 4 to 9% of all primary testis tumours in prepubertal males. These boys present with isosexual precocious pseudopuberty characterized by increased testosterone and low gonadotropin levels. We describe two cases and will discuss differential diagnosis and pathogenesis.Case 1: C. was first referred at 8 years old for pubertal development with accelerated growth since 4 years of age. His v...

hrp0094fc6.3 | Bone and Mineral Metabolism | ESPE2021

Off-label use of cinacalcet in pediatric primary hyperparathyroidism: a French multi-centre experience

Bernardor Julie , Flammier Sacha , Salles Jean-Pierre , Castanet Mireille , Martinerie Laetitia , Lienhardt-Roussie Anne , Amouroux Cyril , Linglart Agnes , Bacchetta Justine ,

Background: For adult patients who do not meet indications to surgery, the calcimimetic cinacalcet is approved for primary hyperparathyroidism (HPT), decreasing calcium and parathyroid hormone (PTH) levels. This drug is largely used in adults, but may be a challenge in daily practice in children, because of the risk of hypocalcemia, increased QT interval and drug interactions. A few pediatric cases have highlighted its potential interest in children with HPT; ...

hrp0094p2-128 | Diabetes and insulin | ESPE2021

Daily Meal Size Variation Does Not Affect Glycemic Control In T1D Adolescent Patients Equipped With The Closed Loop DBLG1 System

Gimenez Paul , Lachal Sylvain , Tourki Yousra , Franc Sylvia , Charpentier Guillaume , Beltrand Jacques , Le Tallec Claire , Benhamou Pierre-Yves ,

The aim of this study was to assess the impact of meal size on glycemic control for T1D adolescent patients equipped with Diabeloop’s Closed Loop, DBLG1 System[1], based on data from the clinical trial NCT04190277. Among this dataset we isolated 37 adolescents. Only days with ≥70% available CGM data and >50% of time in closed-loop were included in the analysis, resulting in an average duration of 18 days per patient for a total of 668 days of treatment. To asses...

hrp0092p1-213 | GH and IGFs (1) | ESPE2019

Determinants of Final Height in Patients Born Small for Gestational Age Treated with Recombinant Growth Hormone

Adler Elodie , Lambert Anne-sophie , Bouvattier Claire , Teinturier Cécile , Bougnères Pierre , Rodrigue Danielle , Rothbuhler Anya , De Boissieu Paul , Linglart Agnès

Introduction: About 15% of children born small for gestational age (SGA) do not reach final height within normal range. Recombinant human growth Hormone (rhGH) has shown to be effective in catching up growth velocity and height in children born SGA.The objective of our study is to identify the predictive factors of final height in children born SGA treated with rhGH.Materials and Methods: Monocentric, retrospective s...

hrp0089s6.1 | Molecular Mechanisms of Tissue Sensitivity to Glucocorticoids: Potential Clinical Implications | ESPE2018

Cardiomyocyte Glucocorticoid and Mineralocorticoid Receptors Antagonistically Regulate Heart Disease

Oakley Robert H , Cruz-Topete Diana , He Bo , Foley Julie F , Myers Page H , Willis Monte S , Gomez-Sanchez Celso E , Chambo Pierre , Cidlowski John A

Stress is increasingly associated with cardiac disease. Glucocorticoids are primary stress hormones that regulate homeostasis through two nuclear receptors, the glucocorticoid receptor (GR) and mineralocorticoid receptor (MR). Cardiomyocytes express both receptors but little is known concerning their specific and coordinated actions in heart physiology and pathology. To examine the in vivo function of glucocorticoid signaling in the heart, we generated mice with cardi...