hrp0086p1-p690 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Fludrocortisone: A Treatment for Tubulopathy Post Paediatric Renal Transplantation – A Scottish Study

Rashid Salma , Athavale Deepa , Shaikh M Guftar

Background: Post renal transplantation, tubulopathies may occur as an effect of transplantation itself or secondary to the use of immunosuppressive regimes. This often requires administration of large doses of sodium bicarbonate and sodium chloride, resulting in poor compliance. Adult studies have shown the advantages of fludrocortisone in the treatment of severe tubulopathies post renal transplant. There is limited data in children. We report our experience from a tertiary pa...

hrp0082p2-d1-362 | Fat Metabolism & Obesity | ESPE2014

Age at Onset of Weight Gain in Prader–Willi Syndrome is Often Between 1 and 2 Years, Preceding the Hyperphagic Phase; Implications for Management

Donaldson Malcolm , Hammed Noran Abu-Of , Shaikh M Guftar

Background: Prader–Willi syndrome (PWS) results from loss of paternally imprinted genes from the 15q11–13 region and causes hypotonia with weight faltering in infancy, followed later by obesity which is classically attributed to hyperphagia.Objective and hypotheses: To determine, where possible, the age at onset of unwanted weight gain (as opposed to actual obesity) in children with PWS attending a specialist clinic.Metho...

hrp0094p1-98 | Thyroid A | ESPE2021

Hypothyroid Screening in Children with Down Syndrome - A Service Evaluation

Harley Rachael , Smith Sarah , Hamza Sherin , Shaikh M. Guftar ,

Background: Individuals with Down Syndrome are at an increased risk of developing thyroid disease. Given that thyroid disorders represent a preventable cause of neurodevelopmental impairment, early detection and treatment are essential to maximise cognitive abilities in this already impaired population. This service evaluation sought to assess the efficacy of the Down Syndrome Hypothyroid Screening programme in its uptake and subsequent diagnosis of hypothyroi...

hrp0092rfc2.6 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Impact of Pubertal Suppression on Body Composition and Bone Mineral Density in Adolescents with Gender Dysphoria

Shepherd Sheila , Dewantoro Dickson , Gerasimidis Konstantinos , Shaikh M Guftar , Mason Avril , Choong Wong Sze , Kyriakou Andreas

Introduction: Pubertal suppression with gonadotrophin releasing hormone (GnRH) analogue is introduced after the onset of puberty in adolescents with gender dysphoria (GD). As puberty is a critical period for bone accrual and changes in body composition, alterations in body composition and bone mass may be observed during treatment.Methods: Thirty-eight adolescents (32/38 assigned females at birth) with GD had dual energy...

hrp0086p1-p486 | Fat Metabolism and Obesity P1 | ESPE2016

Multidisciplinary Intervention Programme in Childhood Obesity- Review of Service

Jones Jeremy , Wallach Peri , Knoud Ellis , Hind Ruth , Robinson Susan , Morrison Jillian , Shaikh M Guftar

Background: A multidisciplinary team (MDT) intervention may improve severe obesity in children through education and life-style change.Objective and hypotheses: MDT intervention leads to improvements in clinical measures of obesity.Method: Participants were selected by criteria: <16 years old; BMI >3.5SDS or BMI >2.5 SDS with obesity-related co-morbidity. Children and their families, attended intervention sessions over ...

hrp0082p2-d1-514 | Pituitary | ESPE2014

Urinary Gonadotrophins for Assessment and Management of Pubertal Disorders

Lucaccioni Laura , McNeilly Jane , Mason Avril , Giacomozzi Claudio , Shaikh M Guftar , Iughetti Lorenzo , Ahmed S Faisal

Background: With improvements in assays and an increasing need for non-invasive out-patient based investigations, there is a renewed interest in the use of urinary gonadotrophins (uGn) for assessing pubertal progress.Objective and hypotheses: This study aims to establish the correlation between serum and urinary LH and FSH in patients with pubertal concerns.Method: 36 boys and girls aged 14.9 years (range 7.8–17.3) and 9.5 yea...

hrp0084p2-333 | Fat | ESPE2015

Leptin Replacement Improves Central Ventilation in a Patient with Congenital Leptin Deficiency: First Report in Childhood

Lucaccioni Laura , Davies Philip L , Gibson Neil A , Farooqi Sadaf , Shaikh M Guftar

Background: Congenital leptin deficiency (CLD) is characterized by severe early-onset obesity due to hyperphagia and impaired satiety. The impact of obesity in obstructive sleep apnoea hypopnoea syndrome (OSAHS) was originally reported as mechanical, but recent data suggest that adipokines may influence central ventilation. We highlight that treatment with recombinant human leptin (RHL) in CLD with OSAHS improves ventilation before weight loss.Case prese...

hrp0084p2-438 | Gonads | ESPE2015

Gonadal Function in the Prader-Willi Syndrome from Infancy to Adulthood

Kherra Sakina , Kourime Mariam , El-Sedfy Heba , Paterson Wendy , Shaikh M Guftar , Donaldson Malcolm

Background: Prader-Willi syndrome (PWS), caused by loss of paternally imprinted genes in the 15q11-13 region, results in hypogonadism which is more severe in males.Objective: To review the gonadal status of patients seen in a dedicated PWS clinic from 1990–2013 inclusive so as to establish the clinical patterns and hence to optimise future management.Method: Retrospective case note review over a 23-year period.<p class="ab...

hrp0094p1-157 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Endocrine Monitoring and Outcome After Therapy In Childhood Survivors of Central Nervous System Tumours

Gilani Misha , McIntosh Diana , Murphy Dermot , Ronghe Milind , Sastry Jairam , Shaikh M Guftar , Kyriakou Andreas ,

Background: Childhood cancer survivors (CCS) are at increased risk of endocrinopathies; as a consequence of cranial/craniospinal radiotherapy and alkylating agents. Hypothalamic-pituitary dysfunction, thyroid dysfunction and gonadal failure are frequently seen.Aim: To explore the endocrine monitoring following completion of treatment for central nervous system (CNS) tumours within a regional paediatric oncology service.<...

hrp0086p1-p559 | Perinatal Endocrinology P1 | ESPE2016

Recognition of the Fetal and Perinatal Features of the Prader-Willi Syndrome is Required to Avoid Delay in Diagnosis

Cizmecioglu Filiz Mine , Jones Jeremy Huw , Paterson Wendy Forsyth , Kherra Sakina , Kourime Mariam , Shaikh M Guftar , Donaldson Malcolm

Introduction: Prompt diagnosis in Prader-Willi syndrome (PWS) is important for counselling the family and thus pre-empt the hyperphagic phase of the condition.Objectives: To determine the key diagnostic features of PWS during the perinatal period and hence recommend strategies to ensure early diagnosis.Study design: Retrospective case note review with prospective questionnaire survey of birth details for the affected child and heal...