hrp0084p2-536 | Puberty | ESPE2015

Ultra-Deep Next-Generation Sequencing: A reliable Method for the Molecular Diagnosis of McCune Albright Syndrome

Mallet-Motak Delphine , Roucher-Boulez Florence , Nicolino Marc , Morel Yves

Background: The molecular diagnosis of McCune Albright syndrome (MAS) is difficult because the detection of somatic GNAS1 mutations is usually performed in blood, in which the fraction of mutated allele could be barely detectable. To improve the usual techniques (selective enrichment, either with nested PCR and enzymatic digestion or with use of peptide nucleic acid probes), and to avoid technical problems like contamination, a new approach using next generation seque...

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...

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...

hrp0086p1-p28 | Adrenal P1 | ESPE2016

Combined Glucocorticoid and Mineralocorticoid Deficiency Related to a New NNT Mutation: A Case Report

Doye Emilie , Roucher-Boulez Florence , Gay Claire-Lise , Castets Sarah , Nicolino Marc , Morel Yves

Background: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by specific failure of adrenocortical glucocorticoid production in response to adrenocorticotropic hormone (ACTH). Mutations of the nicotinamide nucleotide transhydrogenase (NNT) gene have recently been implicated in FGD.Objective and hypotheses: To describe a new case of FGD with combined mineralocorticoid insufficiency and extra adrenal manifestations....

hrp0084p3-963 | GH &amp; IGF | ESPE2015

The Easypod™ Connect Observational Study: Comparison of Results from Interim Analyses

Davies Peter , Nicolino Marc , Norgren Svante , Stoyanov George , Koledova Ekaterina , VanderMeulen John

Background: The Easypod Connect Observational Study (ECOS) observational study follows children with GHD, SGA and Turner syndrome receiving r-hGH therapy for up to 5 years, with interim analyses each year. The easypod electromechanical auto-injector device enables accurate, real-world digital records of patients’ adherence to rhGH to be collected for evaluation.Objective and hypotheses: The primary objective of ECOS is to evaluate the level of adher...

hrp0086p2-p385 | Gonads &amp; 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 ...

hrp0086p1-p725 | Pituitary and Neuroendocrinology P1 | ESPE2016

Metabolic and Pubertal Alterations in Children with Narcolepsy-Cataplexy

Villanueva Carine , Verier-Weulersse Caroline , Guyon Aurore , Nicolino Marc , Lin Jian-Sheng , Inocente Clara Odilia , Franco Patricia

Objective: To study the effect of orexin deficiency on metabolic and pubertal characteristics in narcoleptic children, we compared the metabolic and pubertal alterations between 15 children with narcolepsy with cataplexy (NC) and 15 control children matched for age, body mass index (BMI) z score.Method: Narcoleptic data were collected from the Reference Center for Narcolepsy and control common obese data from the department of pediatric endocrinology in ...

hrp0084p1-159 | Miscelleaneous | ESPE2015

FOXL2 Gene and Combined Pituitary Hormone Deficiency: A Possible Link

Castets Sarah , Saveanu Alexandru , Raybaud Christine , Mallet Delphine , Roucher Florence , Morel Yves , Brue Thierry , Reynaud Rachel , Nicolino Marc

Background: Congenital hypopituitarism is a rare disease. Although our understanding of the involved transcription factors is improving, mutations in candidate genes are rarely identified. Extra-pituitary symptoms can point towards new genes of interest. FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), a rare affection that combines congenital alterations of eyelids with ovarian dysgenesis in some families. Moreover, we have previously reported ...