hrp0086p2-p669 | Growth P2 | ESPE2016

A GH-1 Mutation Diagnosed in a Preadolescent Obese Girl with Only Mild Reduced Height

Bereau Agnes , Coutant Regis , Bouhours-Nouet Natacha

Background: Mutations in GH-1 are classically associated with autosomal dominant familial isolated GH deficiency (IGHD type II).Objective and hypotheses: Here, we report a new case of GH-1 mutation identified in a preadolescent girl consulting for a mild reduced stature contrasting with obesity.Method: The patient was born from non consanguineous French parents. She consulted at the age of 9 for short stature. Her...

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...

hrp0089rfc13.1 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

Risk of Long-Term Endocrine Sequelae in Survivors of Progressing Childhood Optic Pathway Glioma (OPG) Treated by Upfront Chemotherapy: Preliminary Analyses of 102 Subjects from the French Multicentric BB-SFOP Registry

Hippolyte Helene , De Carli Emilie , Pellier Isabelle , Delion Matthieu , Rakotonjanahary Josue , Rialland Xavier , Coutant Regis

For the brain tumor committee of SFCE (Société Française des Cancers de l’Enfant).Objective: Therapeutic approach favors chemotherapy as the first-line-treatment in progressing OPG. There are few data on long term endocrine outcomes of aggressive OPG treated by upfront chemotherapy. Our main objective was to describe the long-term endocrine sequelae in these patients and to identify potential early predictors of the endocrine involvem...

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...

hrp0089p1-p182 | Growth &amp; Syndromes P1 | ESPE2018

Year-one Effectiveness and Overall Safety of NutropinAq® for Growth Hormone Deficiency (GHD) and Other Paediatric Growth Disorders: Completion of the International Cooperative Growth Study (iNCGS) European Registry

Coutant Regis , Munoz Jordi Bosch , Dumitrescu Cristina , Schnabel Dirk , Sert Caroline , Perrot Valerie , Dattani Mehul

Background: The iNCGS Registry monitored long-term safety and effectiveness of NutropinAq® (Somatropin injection) for paediatric growth disorders.Objective: To report year-1 effectiveness and safety data from the iNCGS registry (NCT00455728).Methods: Open-label, non-interventional, post-marketing surveillance study, in seven European countries from October 2005–December 2016. Measurements included height Standa...

hrp0086p2-p411 | Gonads &amp; DSD P2 | ESPE2016

Phenotypic and Hormonal Variability in 46,XY Subjects with SF-1 Mutations

Dillies Natacha , Brasseur Aurelie , Rouleau Stephanie , Metz Chantal , Naud-Saudreau Catherine , Morel Yves , Coutant Regis

Background: 46,XY patients with SF-1 mutations have sex reversal or ambiguous genitalia (with or adrenal insufficiency) due to dysgenetic testis. In most cases, a severe defect in testosterone (T) production has been found. We described here 3 cases showing the variability in T production.Results: Case 1: A was seen at the age of 17 years for primary amenorrhea. Tanner stage was B2PH3. External genitalia were normal. FSH was 55 IU/l, LH 17 IU/l,...

hrp0086p1-p557 | Perinatal Endocrinology P1 | ESPE2016

Mutations in MODY Genes: About Four Cases of Congenital Hyperinsulinism

Berthelon Karen , Rouleau Stephanie , Dupuis Clementine , Bouhours Natacha , Donzeau Aurelie , Cessans Christine , Bellanne Christine , Coutant Regis

Background: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infants and children.Objective and hypotheses: Recently, mutations in genes usually involved in MODY 1 and 3 have been described in HI.Method: We present here six cases of hyperinsulinism associated with MODY1 (one case) and MODY3 (four cases) and one case of HI associated with MODY5 mutation.Results: Case 1...

hrp0086p2-p701 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

TPIT Mutation may be Involved in Multiple Pituitary Deficiencies

Degand Pauline , Rouleau Stephanie , Donzeau Aurelie , Bouhours Natacha , Saveanu Alexandru , Reynaud Rachel , COUTANT Regis

Background: Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency (IAD) is a rare condition. It is characterized by low plasma and cortisol levels and preservation of all other pituitary hormones (2 cases described with transient partial growth hormone deficiency). The principal molecular cause is identified as TPIT mutation. We present here the case of a neonate with TPIT mutation and ACTH deficiency associated with probable growth hormone and thyrotropin deficie...