hrp0094p1-132 | Growth Hormone and IGFs A | ESPE2021

Use of growth hormone therapy in short patients born small for gestational age: data from real-life French clinical practice

Coutant Regis , Leheup Bruno , Nicolino Marc , Salles Jean-Pierre ,

Background: A national French registry was created to address the absence of data on final height and safety following long-term exposure to supraphysiological doses of growth hormone (GH) in children born small for gestational age (SGA).Methods: This observational, non-interventional study (NCT01578135) included GH-naïve and non-naïve SGA children treated with GH at 126 sites in France. The inclusion period wa...

hrp0092p3-33 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

In Case of Osteogenesis Imperfecta Transmission in Pregnancy: Check Vitamine D and Calcium Status of the Mother

Porquet-Bordes Valerie , Groussolles Marion , De Gauzy Jerome Sales , Edouard Thomas , Salles Jean Pierre

Background: A one-month-old girl was referred to our unit for osteogenesis imperfecta (OI). She was the first child of non consanguineous parents. The father had no history of fracture. The mother, 28 years-old, presented with a severe OI, short adult height (140 cm), moderate scoliosis. She had more than 20 limb fractures, no vertebral fracture and bowing limbs without need of surgery. She received Bisphosphonates during 3 years until 12 years of age. Then sh...

hrp0089p3-p200 | GH & IGFs P3 | ESPE2018

Small for Gestational Age (SGA) Patients with Premature Treatment Discontinuation: Their Journey in French Real-life Settings

Salles Jean-Pierre , Coutant Regis , Leheup Bruno , Nicolino Marc , Hacques Evguenia , Villette Beatrice

Objective: Premature GH treatment discontinuation of SGA is usually linked to safety or ineffectiveness. However, this population is poorly addressed compared to those with final adult height (FAH). Authors investigated the journey of SGA prematurely discontinued Norditropin® treatment in a French real-life.Methods: Observational prospective ongoing study: 291 Norditropin®-treated SGA. Annual FU up to FAH. Descriptive anal...

hrp0089p3-p205 | GH & IGFs P3 | ESPE2018

Small for Gestational Age (SGA) Patients in Real Life French Clinical Practice: What is the Difference Between Good and Poor Responders to GH Treatment

Nicolino Marc , Coutant Regis , Leheup Bruno , Salles Jean-Pierre , Hacques Evguenia , Villette Beatice

Objective: Age and height at treatment start, target height, GH dose, and first year treatment response are among known criteria of GH deficiency (GHD) good responders (final adult height [FAH] >−2 standard deviation score [S.D.S.]) to GH treatment (GHT). The authors investigated whether the same criteria are applicable to SGA patients based on real-life ongoing French registry data.Methods: 291 SGA children treated with Norditro...

hrp0089p3-p212 | GH & IGFs P3 | ESPE2018

Height Velocity and Height Gain in the First Year of GH Treatment: Predictive Factors of Good Statural Response in Small for Gestational Age (SGA) Patients

Coutant Regis , Leheup Bruno , Nicolino Marc , Salles Jean-Pierre , Hacques Evguenia , Villette Beatrice

Objective: Bang et al. showed that Δ height and growth velocity (GV) the first year of treatment could be predictive factors of statural response in SGA (n=54). Poor responders showed GV <1SDS (55%) and Δ height <0.5SDS (45%). Moreover, Ortego et al. seems to confirm the suitability interest of KIGS mathematical model in a retrospective SGA cohort (n=103) showing that the percentage of good responders in the first year varies betwee...

hrp0094p2-352 | Pituitary, neuroendocrinology and puberty | ESPE2021

Patients with PWS and related syndromes display differentially methylated regions involved in neurodevelopmental and nutritional trajectory.

Salles Juliette , Franchitto Nicolas , Bieth Eric , Eddiry Sanaa , Molinas Catherine , Salles Jean Pierre , Tauber Maithe ,

Background: Prader-Willi syndrome is a rare genetic neurodevelopmental disorder caused by a paternal deficiency of maternally imprinted gene expression located in the chromosome 15q11-q13 region. Previous studies have demonstrated that several classes of neurodevelopmental disorders can be attributed to either over- or under-expression of specific genes that may lead to impairments in neuronal generation, differentiation, maturation and growth. Epigenetic chan...

hrp0092rfc2.2 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Does the Treatment with Recombinant Human Growth Hormone Improve Final Height in Patients Affected by X-Linked Hypophosphatemia?

André Julia , Zhukouskaya Volha V. , Rothenbuhler Anya , Lambert Anne-Sophie , Salles Jean-Pierre , Mignot Brigitte , Linglart Agnès

Background/Aim: 25 to 40% of children with well-controlled X-linked hypophosphatemia (XLH) show linear growth failure, despite optimal conventional treatment (oral phosphate supplementation and active forms of vitamin D) with final height -2 SDS. Recombinant human growth hormone (rhGH) may be an adjuvant treatment of the growth retardation in these patients. Therefore, the main objective of this study was to describe how rhGH treatment improves final heigh...

hrp0092t8 | Top 20 Poster | ESPE2019

Bone Mineral Density (BMD) in Women with Turner Syndrome (TS) from the DSD-LIFE Cohort, an Epidemiological Study

Pienkowski Catherine , El Allali Yasmine , Cartault Audrey , Ernoult Perrine , Grunenwald Solange , Reish Nicole , Claahsen-Van Hedi , Salles Jean-Pierre

Aim: The objective of the study was to determine bone mineralisation density in Turner syndrome (TS) from DSD life cohort, and to analyse the trabecular (lumbar spine = LS) and cortical bone (femoral neck = FN) mineralisation.Materials and Methods: This study was part of the DSD-LIFE study, a cross-sectional clinical outcome study of the BMD of TS adult patients from paediatric cohorts. BMD of the LS and FN were ...

hrp0089p3-p067 | Bone, Growth Plate &amp; 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...

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-...