hrp0082p2-d2-545 | Puberty and Neuroendocrinology (1) | ESPE2014

Diagnostic Spectrum of Female Pubertal Delay

Uday Suma , Alvi Sabah

Introduction: Delayed onset of puberty is quite a common presentation in adolescent endocrine clinics, and the most common cause, particularly in boys is considered to be constitutional delay of growth and maturation. In girls, however, it is more likely that there is a significant underlying problem.Objectives: To review the aetiology of pubertal delay in female patients referred to a single tertiary centre.Methods: All female pat...

hrp0082p2-d3-496 | Endocrine Oncology | ESPE2014

Endocrine Dysfunction Following Treatment of Medulloblastoma: a Single Centre Experience

Uday Suma , Raju Midhu , Alvi Sabah

Introduction: Medulloblastoma is the commonest paediatric brain tumour and accounts for 20–30% of all brain tumours in the first decade of life. Improvements in treatment strategies have enhanced long-term survival resulting in an increased risk of late sequelae.Aim: Review the prevalence of endocrine dysfunction in survivors of medulloblastoma at a single centre.Methods: Case note review of patients treated for medulloblastom...

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...

hrp0086p1-p832 | Syndromes: Mechanisms and Management P1 | ESPE2016

Effect of Dietetic Management on Weight in Children with Bardet-Biedl Syndrome

Uday Suma , Ali Muzzammil , Azam Waseema , Barrett Timothy

Introduction: Bardet-Biedl syndrome (BBS) is a monogenic disease characterized by retinitis pigmentosa (>90%), obesity (72–86%), insulin resistant diabetes, and hypogonadism. Weight management is challenging due to frequent association of learning and visual impairment. At our BBS MDT clinic, dietetic review is provided at each visit. Dietetic input focuses primarily on reduced fat and sugar content in diet and exercise is encouraged. Individualised written dietary pl...

hrp0082p2-d3-355 | Diabetes (2) | ESPE2014

Glycaemic Control and Microvascular Complications in Adolescents and Young Adults with Type 1 Diabetes: Outcome Following Transfer of Care to Adult Services

Uday Suma , Campbell Fiona , Yong James , Ajjan Ramzi

Introduction: Transition of young adults with diabetes has received much attention in recent years. Despite concerns regarding deterioration in glycaemic control and lack of engagement in services following transfer of care from paediatric to adult services, very few studies have looked at the effect of transfer on glycaemic control and clinic attendance as the primary outcome.Objectives: To establish the glycaemic control and rate of microvascular compl...

hrp0084p2-264 | Diabetes | ESPE2015

Ethnic Variation in the Correlation of Waist Circumference to Daily Insulin Requirement in Children with Type 1 Diabetes

Uday Suma , Gorman Shaun , Feltbower Richard , Mathai Mathew

Introduction: Daily insulin requirement in type 1 diabetes (T1D) depends on various factors.Objectives: To study the correlation of waist circumference (WC) and BMI to daily insulin requirements (TDD) and examine the ethnic variation in this correlation. Associations of estimated glucose disposal rate (eGDR) a surrogate marker of insulin resistance were also studied.Methods: Cross-sectional study of children with T1D attending a di...

hrp0084p2-284 | Diabetes | ESPE2015

In-Patient Care for Children with Type 1 Diabetes – A Regional Audit in the Yorkshire and Humber Region in the North of England

Uday Suma , Amin Nadia , Campbell Fiona , Yong James

Introduction: An important part of diabetes management is maintaining high standards of in-patient care. A previous audit in the South of England demonstrated difficulties consistently achieving standards identified as good practice.Objectives: To identify variations in in-patient care provided to children with type 1 diabetes across the Yorkshire and Humber region.Methods: The audit was conducted against in-patient care standards ...

hrp0097p1-213 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Age at diagnosis of XLH amongst children with and without a family history: Findings from the International XLH Registry

Uday Suma , Sandilands Kerry , Williams Angela , Mughal M.Zulf

Background: X-linked hypophosphatemia (XLH) is a rare, progressive, genetic phosphate wasting disorder leading to rickets, lower limb deformities as well as short and disproportionate stature. The condition is inherited in the majority, however spontaneous mutations are reported in ≈30% of cases. Its rarity, coupled with its diverse clinical manifestations, may lead to delayed diagnosis and subsequently delayed treatment initiation. The objective of this an...

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.<...

hrp0092p1-172 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Is Serum Alkaline Phosphatase Useful in Assessing Rickets Severity on Radiographs in Children with X-Linked Hypophosphataemia on Conventional Therapy?

Uday Suma , Shaw Nick , Mughal Zulf , Randell Tabitha , Högler Wolfgang , Santos Rui , Padidela Raja

Introduction: Conventional treatment of X-linked hypophosphataemic rickets (XLH) involves administration of oral phosphate and vitamin D analogues. An important treatment goal is to heal rickets which is assessed by normalisation of serum alkaline phosphatase (ALP) levels and resolution of radiological signs of rickets.Objectives: To determine the usefulness of serum ALP in assessing disease severity on wrist and knee ra...