hrp0094p1-49 | Sex Endocrinology and Gonads A | ESPE2021

Biallelic PPP2R3C mutations are associated with partial and complete gonadal dysgenesis in 46,XY and 46,XX individuals

Cicek Dilek , Warr Nick , Yesil Gozde , Eker Hatice Kocak , Bas Firdevs , Poyrazoglu Sukran , Darendeliler Feyza , Direk Gul , Hatipoglu Nihal , Eltan Mehmet , Tosun Busra Gurpinar , Kaygusuz Sare Betul , Menevse Tuba Seven , Turan Serap , Bereket Abdullah , Greenfield Andy , Guran Tulay ,

Context: PPP2R3C encodes the B”gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of mammalian cells. We have recently reported homozygous and heterozygous mutations in PPP2R3C in patients with syndromic 46,XY complete gonadal dysgenesis (MEGD syndrome) and impaired spermatogenesis, respectively. In this study, we have further investigated th...

hrp0089s7.2 | Bone | ESPE2018

Hypophosphatasia: Disease and Treatment

Bishop Nick

Hypophosphatasia affects both hard and soft tissues. Its manifestations may become apparent at any time from fetal life to old age and the range of its severity and presentation varies perhaps more than any other metabolic bone disease. With the advent of enzyme replacement therapy, children who would have died not only survive, but can also thrive. As follow-up of treated children continues, we are beginning to understand the potential for complications of treatment and co-mo...

hrp0089mte6.1 | Management of Hypo and Hypercalcaemia | ESPE2018

Management of Hypo and Hypercalcaemia

Shaw Nick

The approach to the management of a child presenting with Hypo or Hypercalcaemia requires an understanding of the physiological regulation of plasma calcium and the key hormones and receptors that are important components. These include Vitamin D, Parathyroid hormone (PTH), the Calcium sensing receptor and renal function. The differential diagnosis for both these conditions is wide and it is important that relevant investigations are undertaken at presentation prior to the ini...

hrp0086p2-p847 | Syndromes: Mechanisms and Management P2 | ESPE2016

Late Presenting Girls with Turner Syndrome can Achieve a Normal Final Height

Sakka Sophia , Shaw Nick , Kirk Jeremy

Background: The diagnosis of turner syndrome (TS) must be included in the differential diagnosis of all girls with short stature. Despite overall earlier diagnosis and treatment there still remain patients with TS who present late with delayed puberty. Although growth hormone (GH) is known to increase final height (FH) in girls with TS, little evidence exists on treatment in late-presenting girls.Objective and hypotheses: To assess the effect of late GH ...

hrp0094p2-60 | Bone, growth plate and mineral metabolism | ESPE2021

Osteosclerotic Metaphyseal Dysplasia: A novel homozygous LRRK1 mutation in two siblings

Pieridou Chariklia , Uday Suma , Shaw Nick ,

Background: Osteosclerotic metaphyseal dysplasia (OSMD, OMIM 615198) is an extremely rare autosomal recessive disorder, within the family of sclerosing bone dysplasias. It is a distinctive type of osteopetrosis characterised by a unique pattern of osteosclerosis predominantly involving the metaphyseal margins of the long tubular bones. OSMD is characterised by skeletal deformity and multiple fractures and associated clinically with developmental delay, hypoton...

hrp0089rfc14.2 | Multisystem Endocrine Disorders | ESPE2018

British Society for Paediatric Endocrinology and Diabetes Peer Review of Specialised Paediatric Endocrinology Services in the UK - Evaluation of the Outcomes

Schulga Joihn , Mitchell Heather , Musson Pauline , Shaw Nick , Patel Leena

Introduction: The BSPED Peer review programme was initiated in 2011 to provide a regular cycle of independent impartial professional assessment, against quality standards for Specialised Paediatric Endocrine Services (SPES) in the UK.1 We present here an evaluation of the outcomes from the first review cycle completed in 2017.Methods: We examined pre-review self-assessments (4–6 weeks before a site visit by the Peer Review team) and post-...

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...

hrp0089p2-p294 | Multisystem Endocrine Disorders P2 | ESPE2018

British Society for Paediatric Endocrinology and Diabetes Peer Review of Specialised Paediatric Endocrinology Services in the UK - Evaluation of the Process

Schulga John , Mitchell Heather , Musson Pauline , Shaw Nick , Patel Leena

Introduction: The BSPED Peer review programme was developed to provide a regular cycle of independent impartial professional assessment, against agreed quality standards for Specialised Paediatric Endocrine Services (SPES) in the UK.1 The aim is to continuously promote best quality of care for children and young people with endocrine disorders requiring National Health Service treatment at a SPES. We present here an evaluation of the process during this first revie...

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...

hrp0092fc10.3 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Mutations in the DEAH-box RNA Helicase DHX37 are a Frequent Cause of 46,XY Gonadal Dysgenesis and 46,XY Testicular Regression Syndrome

McElreavey Ken , Jorgensen Anne , Eozenou Caroline , Merel Tiphanie , Bignon-Topalovic Joelle , Tan Daisy , Houzelstein Denis , Buonocore Federica , Warr Nigel , Kay Raissa , Peycelon Mathieu , Siffroi Jean-Pierre , Mazen Inas , Achermann John , Shcherbak Yuliya , Leger Julienne , Sallai Agnes , Carel Jean-Claude , Martinerie Laetitia , Le Ru Romain , Conway Gerald , Mignot Brigitte , Van Maldergem Lionel , Bertalan Rita , Globa Evgenia , Brauner Raja , Jauch Ralf , Nef Serge , Greenfield Andy , Bashamboo Anu

XY individuals with Disorders/Differences of Sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or, more rarely, testis regression during early fetal development. The genetic etiology for most patients with 46,XY gonadal dysgenesis and for all patients with testicular regression syndrome (TRS) is unknown. Identification of novel genes involved in DSD is crucial for providing an accurate clinical diagnosis, aiding ...