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 ...

hrp0092p3-327 | Late Breaking Abstracts | ESPE2019

Severe Hypercalcaemia After Years on The Ketogenic Diet: A Novel Case Report

Sandy Jessica , Cocca Alessandra , Cheung Moira , Lumsden Daniel , Sakka Sophia

Introduction: An association between the ketogenic diet (KD) and hypercalcaemia has been suggested in one case series of three children1, where hypercalcaemia occurred within 12 months of starting KD. We describe a case where severe hypercalcaemia occurs after four years on KD.Case: A 5.5-year-old boy is referred for hypercalcaemia in context of early sepsis and a background of Dynamin-1 gene mutation causing ...

hrp0089p2-p411 | Thyroid P2 | ESPE2018

Awareness of the Risks of Acquired Iodine Deficiency in Strict Vegan Diets

Brandt Agnieszka , Cheung Moira , Sakka Sophia , Ajzensztejn Michal , Hulse Tony

Background: Iodine deficiency is the most common cause of acquired hypothyroidism worldwide but rare in developed countries. Incidence of iodine deficiency may be rising due to increased popularity of vegan diets. There is minimal information on official health promotional webpages alerting to this risk.Case presentation: We present a 2.5yr old boy and his 6yr old sister from a family who adhere to a strict vegan diet and additional dietary restriction i...

hrp0095rfc2.5 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Bone biopsy histomorphometric features of vertebral changes in sickle cell disease.

Sakka Sophia , Nadar Ruchi , Inusa Baba , Cocca Alessandra , Santos Rui , Cheung Moira

Background: Vertebral changes such as biconcave end plate depressions are well described in children with sickle cell disease (SCD). However, as vertebral height reductions are a marker of osteoporosis in children, we aimed to determine whether these could present underlying osteoporosis, by performing transiliac bone biopsies in two patients.Case 1: A 13-year-old female with SCD, presented with back pain. She had delaye...

hrp0095p1-219 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Use of Zoledronic acid in children with sickle cell disease: a single centre experience

Nadar Ruchi , Santos Rui , Cheung Moira , Cocca Alessandra , Inusa Baba , Sakka Sophia

Children with sickle cell disease (SCD) often suffer from back pain and present with vertebral changes, but the use of bisphosphonates is poorly reported. We present our experience on treating six children with SCD with Zoledronate in a tertiary paediatric endocrinology and haematology centre.Population: Six children with SCD were treated with zoledronate infusions between the years 2016-2021. All children had a history of significant mi...

hrp0094p1-29 | Diabetes A | ESPE2021

Incidence and severity of new-onset paediatric Type 1 diabetes in the COVID-19 pandemic – a UK multicentre perspective

Ponmani Caroline , Sakka Sophia , Wickramarachchi Chandu , Redpath Yvette , Ajzensztejn Michal , Kanumakala Shankar , Hulse Tony ,

Background: Paediatric diabetes has been the focus of attention during the COVID-19 pandemic. There are reports of increased incidence of new-onset type 1 paediatric diabetes and concerns about delayed presentations to the Emergency Department (ED) due to parental fears of SARS-CoV-2, resulting in an increase in the incidence and severity of DKA in children with new-onset diabetes.Objectives: To characterise the features...

hrp0094p2-150 | Diabetes and insulin | ESPE2021

PIMS-TS [Paediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 (Covid-19)] in a child with new onset type 2 diabetes

Sakka Sophia , Mohan Meena , Price Abigail , Handforth Jennifer , Wong James , Nyman Andrew , Ponmani Caroline ,

Introduction: PIMS-TS [Paediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2] is a unique clinical complication of COVID -19 infection in paediatric patients. We report a case of a child presenting with PIMS-TS and new onset type 2 diabetes.Presentation: A previously healthy 15 year old boy of Bengali-Indian origin presented to the hospital with polyuria, polydipsia, dry cough, abdominal pain and 1 episode of...

hrp0097p2-58 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Kenny Caffey syndrome 2; expanding the clinical spectrum

Hatziagapiou Kyriaki , Sertedaki Amalia , Dermentzoglou Vasiliki , Kanaka-Gantenbein Christina , D. Sakka Sophia

Background: Kenny–Caffey syndrome 2 (KCS 2) is a rare cause of hypoparathyroidism, characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular long bones, delayed closure of anterior fontanel and eye abnormalities.Objective: We report the case of a 4-years’-old boy, who presented with the characteristic, and newly identified clinical, biochemical, radiological and genet...

hrp0092p3-270 | Late Breaking Abstracts | ESPE2019

A Real World, Clinical Experience of Burosumab Therapy in a Cohort of Children with X-Linked Hypophosphataemia

Sandy Jessica , Gilbey-Cross Robyn , Santos Rui , Cocca Alessandra , Sakka Sophia , Morris Mavali , Massey Jill , Cheung Moira

Burosumab, a monoclonal antibody targeting fibroblast growth factor 23, is now available for clinical use in children with X-linked hypophosphatemia (XLH). We explored the effects of this treatment in a clinical setting, considering biochemistry, growth, deformity, functionality, quality of life, pain and fatigue.Methods: Clinical, biochemical, radiological and questionnaire data were reviewed at 6 and 12 months in a cohort of 8 children...

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 ...