hrp0092p1-368 | GH and IGFs (2) | ESPE2019

Renal Complication of Hematuria and Proteinuria after Recombinant Human Growth Hormone Therapy in Children

Kim Chan Jong , Park Na Ri , Yang Eun Mi

Introduction: Treatment with recombinant human growth hormone (rhGH) is useful for growth failure in short stature children. But there are some reports of renal disease or complication occurring during rhGH treatment. GH and insulin-like growth factor-1 (IGF-1), together with other growth factors and cytokines, have important roles in adaptive morphological and functional changes in the kidney. This study was aimed to reveal the renal complication of hematuria...

hrp0089lb-p17 | Late Breaking P1 | ESPE2018

Protein-Induced Hypoglycemia Secondary to Hyperinsulinism-Hyperammonemia (HI/HA) Syndrome: A GLUD1 Gene Mutation

D'Ambrosio Fabiola , Buchanan Ashley , Chan Jacquelin , Mantis Stelios

Introduction: Hyperinsulinism–Hyperammonemia (HI/HA) syndrome is a rare autosomal disease characterized by episodes of hypoglycemia related to consumption of high-protein containing foods or fasting with associated hyperammonemia secondary to an activating mutation in the GLUD1 gene. It often remains unrecognized until later in childhood because symptomatic episodes can be misinterpreted as epilepsy if patterns of hypoglycemia with fasting and protein-rich meals are not i...

hrp0084fc1.5 | Adrenal | ESPE2015

Atypical Presentation of Six Patients with Mutations in the Side Chain Cleavage Enzyme CYP11A1

Chan Li , Huebner Angela , Spoudeas Helen , Cheetham Tim , Metherell Louise

Background: Mutations in the side chain cleavage enzyme, (CYP11A1) cause congenital adrenal insufficiency, with complete or partial 46XY sex reversal. The disorder manifests with adrenal and gonadal insufficiencies along with derangements of the renin/angiotensin system.Objective and hypotheses: To obtain a genetic diagnosis in six patients with adrenal insufficiency of unknown aetiology. Patients 1 and 2 are sisters with ACTH resistance, having...

hrp0086p2-p408 | Gonads & DSD P2 | ESPE2016

Disorders of Sex Genitalia in Yaounde: Difficult Questions, Which Answers?

Sap Suzanne , Mouafo Faustin , Sobngwi Eugene , Walburka Yvonne Joko , Dahoun Sophie , Morel Yves , Mure Pierre Yves , Coultre Claude Le , Koki Paul Olivier

Background: Disorders of sex genitalia are a large group of genetic disorders whose management is still unaffordable in many countries in sub Saharan Africa. In Cameroon, although many collaborative initiatives of management are developed, little data are available.Objectives: Describe epidemiological clinical, aetiologies and management aspect of DSD in a developing country.Patients and methods: This is a 5 years retrospective stu...

hrp0092rfc13.5 | Adrenals and HP Axis | ESPE2019

Genetics of Familial Glucocorticoid Deficiency Over the Decades: Phenotypic Variability and Associated Features

Smith CJ , Maharaj AV , Prasad R , Hughes CR , Clark AJL , Chan LF , Metherell LA

Background: Over the last 25 years more than 410 cases with suspected Familial Glucocorticoid Deficiency (FGD) have been referred to our centre for genetic testing. All cases had low or undetectable serum cortisol paired with an elevated plasma ACTH level. Our patient cohort comprises 352 families from 30 different nationalities and ranges from neonates to patients in their eighties. Mutations in the MC2R were first discovered as causative of FGD in 1...

hrp0097p1-55 | Fat, Metabolism and Obesity | ESPE2023

Association between serum uric acid and blood pressure in children and adolescents: A systematic review-meta regression

Beng Hui Ng Nicholas , Han Luke , Tan Rachel , Ven Yap Qai , Huak Chan Yiong

Background: Hyperuricaemia has been associated with increased risk of metabolic syndrome in adults and children. Elevation in serum uric acid (SUA) is hypothesized to be a critical initiator of the development of essential hypertension. The exact relationship between SUA and blood pressure (BP) has not been established in the pediatric population. We conducted a systematic review to evaluate the association between SUA and BP in well, obese/overweight and hype...

hrp0097p1-518 | Growth and Syndromes | ESPE2023

Outcomes of growth hormone treatment in children with Prader Willi Syndrome over a 30-year period at the Children’s Hospital at Westmead, New South Wales Australia

Gamage Dilhara , Chan Albert , Maguire Ann , Srinivasan Shubha , Ambler Geoffrey , Hi Cho Yoon

Background: Prader-Willi syndrome (PWS) is a rare genetic obesity syndrome associated with relative growth hormone deficiency. Scoliosis is a known association of both PWS and growth hormone therapy (GH), although its role in causation remains uncertain. In the literature, short-term and long-term data revealed no adverse effects of GH on scoliosis. As the metabolic and clinical benefit of growth hormone therapy is established in the management of PWS, it is d...

hrp0086p1-p118 | Bone & Mineral Metabolism P1 | ESPE2016

Management of Tracheobronchomalacia During Asfotase Alfa Treatment in Infants with Perinatal-onset Hypophosphatasia: A Case Series

Padidela Raja , Yates Rob , Benscoter Dan , McPhail Gary , Chan Elaine , Nichani Jaya , Mughal M Zulf , Saal Howard M

Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by loss-of-function mutations in the gene encoding tissue nonspecific alkaline phosphatase (TNSALP), resulting in hypomineralisation of bone. HPP presenting <6 months of age is often lethal due to respiratory insufficiency, with survival of 42% at 1 year. Asfotase alfa, a human recombinant TNSALP replacement, promotes bone mineralisation, with survival of 95% at 1 year in infants with HPP....

hrp0082lbp-d3-1002 | (1) | ESPE2014

Pseudoexon Activation in Nicotinamide Nucleotide Transhydrogenase in Two Siblings with Familial Glucocorticoid Deficiency

Chan Li , Novoselova Tatiana , Rath Shoshana , Carpenter Karen , Atkinson H , Dickinson Jan , Pachter Nick , Price G , Choong Cathy , Metherell Lou

Background: Two siblings of non-consanguineous parents presented with FGD, demonstrated by ACTH resistance with glucocorticoid but not mineralocorticoid deficiency. The proband presented at 21 months, unresponsive with hypoglycaemia (BGL 1.5 mmol/l). Endocrine evaluation subsequent to resuscitation indicated adrenal insufficiency with elevated ACTH. Hydrocortisone therapy was commenced. A sibling, 4 years younger than the proband had a short Synacthen test (SST) performed on d...

hrp0095rfc8.4 | Diabetes and Insulin | ESPE2022

Developing a regional Southeast Asia diabetes healthcare professional network and webinars programme initiative during the pandemic

Sze May Ng , Lek Ngee , Sahakitrungruang Ngee , Pheng Chan Siew P , Yong Lai Mee , Yazid Jalaludin Muhammad , Thao Bui Muhammad , Nyi Nyi Soe , Ficheroulle Anne-Charlotte , Toomey Charles

Background: In 2020, the average glycaemic index of Type 1 diabetes (T1D) in Southeast Asia (SEA) countries were reported to be at around 83mmol/mol. In many low-middle-income countries (LMICs) in SEA, insufficient infrastructure, lack of universal health coverage and professional knowledge are factors that affect T1D outcomes that adversely affect mortality and morbidity. Action4diabetes (A4D) currently provides comprehensive partnership programmes with defin...