hrp0089p1-p181 | Growth & Syndromes P1 | ESPE2018

Long Term Effects of Childhood Growth Hormone Treatment on Height and Body Mass Index in Adolescents and Adults with Silver-Russell Syndrome

Lokulo-Sodipe Oluwakemi , Canton Ana P. M. , Giabicani Eloise , Ferrand Nawfel , Child Jenny , Wakeling Emma L. , Binder Gerhard , Netchine Irene , Mackay Deborah J.G. , Inskip Hazel M. , Byrne Christopher D. , Davies Justin H. , Temple I. Karen

Growth hormone (GH) is commonly used during childhood to treat short stature in Silver-Russell syndrome (SRS), but final height and long-term body mass index (BMI) data are limited.Objective: To evaluate height and BMI in older individuals with molecularly confirmed SRS and compare those previously treated with GH to those untreated.Methods: Growth data on individuals aged ≥13 years with SRS were evaluated from UK, French and...

hrp0084p2-523 | Puberty | ESPE2015

Copy Number Variants in Patients with Congenital Hypopituitarism Associated with Complex Phenotypes

Correa Fernanda A , Franca Marcela M , Canton Ana P M , Otto Aline P , Costalonga Everlayny F , Brito Vinicius N , Carvalho Luciani R , Costa Silvia , Arnhold Ivo J P , Jorge Alexander A L , Rosenberg Carla , Mendonca Berenice B

Background: The aetiology of congenital hypopituitarism (CH) is unknown in the majority of patients. In our cohort of 200 cases, it was possible to establish the genetic cause in only 13 patients (6.5%). Copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology.Objective: To study the presence of CNVs and its relevance in patients with CH of unknown cause associated with complex phenotypes.<p...