hrp0092p1-87 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Long-Term Safety Follow-up after Omnitrope® (recombinant human growth hormone) Treatment in Short Children Born Small for Gestational Age (SGA): Latest Results

Walczak Mieczyslaw , Giemza Tomasz , Jathanakodi Shrihari , Zouater Hichem , Zabransky Markus

Background: The benefit of recombinant human growth hormone (rhGH) in improving height is widely recognised; however, rhGH therapy can affect carbohydrate metabolism and lead to impaired glucose tolerance during treatment. In addition, short children born SGA are predisposed to metabolic abnormalities. This study assessed the long-term safety of growth hormone (Omnitrope®) use in short children born SGA for up to 10 years after the end of treat...

hrp0092p1-387 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Omnitrope® (Recombinant Human Growth Hormone) in Short Children Born Small for Gestational Age (SGA): A Long-Term, Phase IV Study

Walczak Mieczyslaw , Giemza Tomasz , Jathanakodi Shrihari , Zouater Hichem , Zabransky Markus

Background: Short children born SGA are predisposed to metabolic abnormalities. While the benefit of recombinant human growth hormone in improving height is widely recognised, it can affect carbohydrate metabolism and lead to impaired glucose tolerance during treatment. This ongoing, prospective study is assessing the long-term safety and efficacy of Omnitrope® (somatropin) in children born SGA. Here we present data from an interim analysis con...

hrp0092p2-178 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Adult Height of Patients Enrolled in PATRO Children, An Ongoing Observational Study of the Long-term Safety And Effectiveness Of Omnitrope®

Kanumakala Shankar , Backeljauw Philippe , Otfried Schwab Karl , Loche Sandro , Zabransky Markus , Zouater Hichem

Objectives: PATRO Children is an observational, international, longitudinal study of the long-term safety of a recombinant human growth hormone (rhGH; Omnitrope®, Sandoz). The effect of rhGH treatment on growth and adult height (AH) is assessed as a secondary objective of the study.Methods: This ongoing study is conducted in hospitals and specialised endocrinology clinics across 14 countries. The study po...

hrp0089rfc15.6 | Growth and syndromes | ESPE2018

Latest Results from PATRO Children, a Multi-Centre, Non-Interventional Study of the Long-Term Safety and Efficacy of Omnitrope® in Children Requiring Growth Hormone Treatment

Kanumakala Shankar , Pfaffle Roland , Hoybye Charlotte , Kristrom Berit , Battelino Tadej , Zabransky Markus , Zouater Hichem

Objectives: PATRO Children is a non-interventional, international, longitudinal study of the long-term safety of a recombinant human growth hormone (rhGH; Omnitrope®, Sandoz). In particular, the study will assess the diabetogenic potential of rhGH and the risk of malignancies. The long-term efficacy is a secondary objective of the study.Methods: The study population includes infants, children and adolescents receiving Omnitrope®...

hrp0092p1-227 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Latest Results From PATRO Children, a Multi-Centre, Observational Study of the Long-Term Safety and Effectiveness of Omnitrope® in Children Requiring Growth Hormone Treatment

Kanumakala Shankar , Pfäffle Roland , Höybye Charlotte , Kriström Berit , Battelino Tadej , Zabransky Markus , Zouater Hichem

Objectives: PATRO Children is an observational, international, longitudinal study of the long-term safety of a recombinant human growth hormone (rhGH; Omnitrope®, Sandoz). In particular, the study will assess the impact of rhGH on glucose metabolism and risk of malignancies. Long-term effectiveness is a secondary objective.Methods: The study population includes infants, children and adolescents receiving ...

hrp0095p2-262 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Analyze of clinical, biological and therapeutic aspects of 46 XY DSD

Iabbassen Malek , Bensalah Meriem , Brahimi Hanane , Benabdellatif Katia , Sellal Zoubir , Zahaf Hamid , Mouloud Benaired Amine , Choutri Hichem , Khadidja Ouldkablia Samia

Background: Clinical spectrum of 46 XY DSD is characterized by a greatest diversity. Atypical sex development can occur through different steps of testicular differentiation. Etiologies of 46 XY DSD are termed gonadal dysgenesis, hormonal dysfunction and action. Its global incidence is unknown but the most common presentation, hypospadias, is understood to occur in 1 in 125 male births, and complete androgen insensitivity has an incidence of 1:20,000 people.</...

hrp0084fc14.1 | Puberty | ESPE2015

KLB, Encoding the Co-receptor for FGF21, is Mutated in Congenital Hypogonadotropic Hypogonadism

Xu Cheng , Miraoui Hichem , Somm Emmanuel , Kinnunen Tarja , Dwyer Andrew , Preitner Nadia , Sykiotis Gerasimos , Santini Sara , Quinton Richard , Plummer Lacey , Crowley William , Hauschild Michael , Phan-Hug Franziska , Sidis Yisrael , Mohammadi Moosa , Messina Andrea , Pitteloud Nelly

Background: The hepatokine FGF21 signals through a dual receptor complex consisting of FGFR1c and the obligatory co-receptor β-Klotho to regulate glucose and lipid metabolism. Interestingly, female mice with Fgf21 transgenic overexpression are not only resistant to high-fat diet induced obesity but also present with hypogonadotropic hypogonadism (HH) and infertility. Loss-of-function (LOF) mutations in FGFR1 are a frequent cause of congenital HH (CHH). W...

hrp0084p2-304 | DSD | ESPE2015

A Novel Homozygous Missense Mutation in RSPO1 Associated with a Familial Case of 46,XX Testicular and Ovotesticular DSD

Naasse Yassine , Jennane Farida , Hicham Sibai , McElreavey Ken , Bashamboo Anu

Background: RSPO1 is an activator of the canonical Wnt signalling pathway by acting as a ligand for LGR4–6 receptors and an a 46,XX individual it represses testicular development. Only three families have been reported in the literature with recessive mutations in RSPO1 and syndromic 46,XX sex-reversal.Objective and hypotheses: We identified a consanguineous family from Southern Morocco with two sibs presenting with 46,XX testicular and ovo...