hrp0082p1-d2-39 | Bone | ESPE2014

Continuous s.c. Recombinant PTH1–34 Pump Therapy in Congenital Hypoparathyroidism Associated with Malabsorption

Saraff Vrinda , Hogler Wolfgang

Background: Congenital hypoparathyroidism (CH) is a rare disease that usually responds well to conventional therapy with active vitamin D and calcium supplementation. The successful use of continuous s.c. recombinant parathyroid hormone (rhPTH1–34) infusion as a hormone replacement has been demonstrated in cases of CH caused by autosomal dominant hypoparathyroidism or autoimmune polyendocrine syndrome type 1.Objective and hypotheses: We r...

hrp0089p2-p217 | GH & IGFs P2 | ESPE2018

The BSPED National GH Audit: Trends in Prescribing from 2013–2016

Patel Leena , Shepherd Sheila , Shaw Nick , Saraff Vrinda

Introduction: Prescribing of recombinant human GH for growth failure in UK children is based on guidance from the National Institute of Clinical Excellence. In 2013, the BSPED initiated this national audit of children/adolescents newly-prescribed GH to monitor trends in NHS prescribing practice. Here we have examined these trends from 2013 to 2016.Patient population: All patients aged ≤16.0 years newly starting GH therapy in the UK.<p class="ab...

hrp0084p2-213 | Bone | ESPE2015

Comparison of Cost Benefits and Efficacy of Zoledronic Acid and Pamidronate in the Treatment of Osteogenesis Imperfecta in Children

Saraff Vrinda , Sahota Jaskiran , Crabtree Nicola , Shaw Nick , Hogler Wolfgang

Background: i.v. Pamidronate (PAM) has been used in the treatment of osteogenesis imperfecta (OI) and is known to increase bone mineral density (BMD) and reduce the incidence of fractures. However an attractive alternative is the more potent i.v. Zoledronic acid (ZOL).Objective and hypotheses: To determine the clinical efficacy of i.v. PAM vs ZOL in children with mild to moderate OI and compare the cost benefits of the two drugs.Me...

hrp0092rfc6.5 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Evaluating Genotype-Phenotype Correlation using an in vitro Mutagenesis Model in Bi-Allelic Mutations Resulting in Extreme Hypophosphatasia Clinical Phenotypes

Uday Suma , Matsumura Tomohiro , Saraff Vrinda , Saito Shiho , Orimo Hideo , Högler Wolfgang

Introduction: Hypophosphatasia (HPP) characterized by reduced mineralization results from mutations in the tissue non-specific alkaline phosphatase (ALPL) gene. HPP is clinically variable with extensive allelic heterogeneity in the ALPL gene. We report the findings of in vitro functional studies following site-directed mutagenesis in bi-allelic mutations causing extreme clinical phenotypes; severe perinatal and asymptomatic HPP.<...

hrp0092p1-426 | Thyroid (2) | ESPE2019

A Rare Case of Familial Heterozygous Thyroid Hormone Receptor Beta (THRB) Mutation Presenting with Dilated Cardiomyopathy

Hastings Lucy , Saraff Vrinda , Chikermane Ashish , Boelaert Kristien , Lyons Greta , Moran Carla , Mohamed Zainaba

Background: Resistance to thyroid hormone beta (THRβ) is a clinical spectrum which varies in presentation even between individuals with the same mutation. Life-threatening cardiac dysfunction is recognized in homozygous THRβ state but never reported in cases of inherited heterozygous THRβ defects.Aim: We report the first case of familial inherited heterozygous (THRB) beta mutation presenting with ...

hrp0082p1-d2-121 | Fat Metabolism &amp; Obesity (1) | ESPE2014

Sex-, Age- and Height-Specific Reference Curves for the 6-min Walk Test in Healthy Children and Adolescents

Saraff Vrinda , Schneider Johanna , Colleselli Valeria , Ruepp Monika , Neururer Sabrina , Rauchenzauner Markus , Geiger Ralf , Hogler Wolfgang

Background: The 6-min walk test (6MWT) is a simple, accurate and safe method to measure functional exercise capacity. The 6MWT is increasingly used in children to predict morbidity and mortality from cardiopulmonary disease, to assess functional capacity and measure disease progression in chronic childhood conditions such as muscular dystrophy.Objective and hypotheses: To provide smooth reference curves for the 6-min walk distance (6MWD) in healthy child...

hrp0095p2-139 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

A stormy neonatal course

Brown Katie , Kaninde Abhidhamma , Law James , Nadar Ruchi , Saraff Vrinda , Mohamed Zainaba

Introduction: Neonatal thyrotoxicosis (NT) is rare but potentially life-threatening condition with high mortality risk due to cardiac failure(12-20%). Affected neonates are born to mothers with underlying thyroid pathology. Estimated prevalence of trans-placental transfer of thyroid antibodies occurs 1 in every 70 pregnancies with Graves’ disease. Symptoms in the neonate usually manifest by 10 days of life but this can be as late as day 45. We discuss tw...

hrp0084p2-229 | Bone | ESPE2015

Comparison of the Response to Bisphosphonate Treatment between Acute Lymphoblastic Leukaemia and Osteogenesis Imperfecta Type I

Uday Suma , Kumaran Anitha , Ginige Nimasari , Sakka Sophia , Saraff Vrinda , Sahota J , Crabtree Nicola , Shaw Nick , Hogler Wolfgang

Background: Osteoporosis in children with osteogenesis imperfecta type 1 (OIT1) and acute lymphoblastic leukaemia (ALL) is characterised by high bone turnover. However the ability of spontaneous healing and reshaping of bone is retained in ALL even in the absence of bisphosphonate (BP) therapy, but impaired in OI.Objectives: To compare the response to BP therapy in children with ALL and OI.Methods: Retrospective review of children ...

hrp0089rfc1.4 | Adrenals &amp; HPA Axis | ESPE2018

Mass Spectrometry-Based Assessment of Childhood Androgen Excess in 487 Consecutive Patients Over 5 Years

Idkowiak Jan , Elhassan Yasir S , Mannion Pascoe , Smith Karen , Webster Rachel , Saraff Vrinda , Barrett Timothy G , Shaw Nick J , Krone Nils , Dias Renuka P , Kershaw Melanie , Kirk Jeremy , Krone Ruth E , O'Reilly Michael W , Arlt Wiebke

Background: Androgen excess in childhood is a common clinical presentation and might signify serious pathology. We have recently explored patterns and severity of androgen excess in a large female adult cohort to differentiate common polycystic ovarian syndrome (PCOS) from non-PCOS pathology, including congenital adrenal hyperplasia (CAH), ovarian hyperthecosis and adrenal and ovarian tumours (Elhassan et al., JCE&M 2018). Herein, we undertake a similar approach f...

hrp0086fc2.2 | Bone &amp; Mineral Metabolism | ESPE2016

From Pseudohypoparathyroidism to Inactivating PTH/PTHrP Signaling Disorder (iPPSD), a Novel Classification Proposed by the European EuroPHP-Network

Thiele Susanne , Mantovani Giovanna , Barlier Anne , Bordogna Paola , Elli Francesca M , Freson Kathleen , Garin Intza , Grybek Virginie , Hanna Patrick , Izzi Benedetta , Hiort Olaf , Lecumberri Beatriz , Pereda Arrate , de Sanctis Luisa , Silve Caroline , Turan Serap , Usardi Alessia , Saraff Vrinda , de Nanclares Guiomar Perez , Linglart Agnes

Background: Disorders related to an impairment in parathyroid hormone (PTH) signaling pathway are historically classified under the term pseudohypoparathyroidism (PHP), that now encompasses rare, related but highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and an in vitro assay of Gs&#9...