hrp0095p1-1 | Adrenals and HPA Axis | ESPE2022

Collection of salivary steroids in children under conditions replicating home sampling

Tonge Joseph , Keevil Brian , Craig Jessica , Langley Joe , Whitaker Martin , Ross Richard , Elder Charlotte

Background: Measurement of salivary glucocorticoids is an accepted method for testing adrenal function and is gaining popularity as it offers a non-invasive collection technique, enabling sampling in the community or home environment, allowing tailored capture of steroid circadian rhythm and improved patient experience. However, there is little data on stability during home collection and sampling methods in young children. Current salivary collection techniqu...

hrp0095p1-59 | Diabetes and Insulin | ESPE2022

Type 1 diabetes glycated haemoglobin outcomes did not differ by insulin regimen in two large Cambodian tertiary hospitals

May Ng Sze , IV Malene , Yay Chantana , Chhun Khun Leang , Manet Ban , Martin Tyla , Lek Ngee

Introduction: Action 4 Diabetes (A4D) is a UK non-profit organisation which has been providing free insulin and self-monitoring blood glucose test kits for children and young people (CYP) with type 1 diabetes (T1D) in Cambodia’s 2 large tertiary hospitals-Kantha Bopha II Hospital based in Phnom Penh (KB2H) and Jayavarman VII Hospital based in Siem Reap (J7H), since July 2018 and January 2020, respectively.Objective:</strong...

hrp0095p1-451 | Diabetes and Insulin | ESPE2022

Maintaining insulin and medical supplies for disadvantaged people with Type 1 Diabetes in Southeast Asia during the COVID-19 pandemic

May Ng Sze , Toomey Nicholas , Manet Ban , Lin Kyaw Htun , Khambuapha, Khamtavanh , Martin Tyla , Ooi Fiona

Introduction: As COVID-19 spread across Southeast Asia (SEA) in 2020-2021, healthcare systems in Cambodia, Laos and Myanmar braced as public health officials closed many outpatient diabetes clinics and healthcare professionals (HCPS) were redeployed to COVID-treatment zones. Action 4 Diabetes (A4D) is a UK non-profit organisation that has been providing free insulin and medical supplies to LMICs in SEA since 2016. With historically limited healthcare coverage ...

hrp0092fc9.6 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

[18F]F-DOPA-PET/MRI or /CT in Children with Congenital Hyperinsulinism

Empting Susann , Mohnike Konrad , Barthlen Winfried , Michel Peter , Wieland Ilse , Zenker Martin , Mohnike Wolfgang , Mohnike Klaus

Congenital hyperinsulinism (CHI) is a complex heterogeneous disease affecting 1 in 40.000 newborns. Recurrent hypoketotic hypoglycaemia led to permanent mental and motor disabilities in 30-40% of children. Histologically three types had been differentiated: focal, diffuse and atypical. Up to now, only focal-type CHI can be permanently cured by focus removal. Focal-type CHI is characterized by paternal inherited mutation of ABCC8 or KCNJ11 mutations. Therefore mutation anal...

hrp0092rfc2.3 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Growth Hormone Effects on Metacarpal Bone Geometry and Bone Age in Growth Hormone-Deficient Children

Martin David D , Ranke Michael B , Henrik Thodberg Hans , Binder Gerhard

Purpose: To track the effects of growth hormone on bone geometry and maturation in children with isolated growth hormone deficiency (GHD).Methods: 299 left hand X-rays from 77 short prepubertal children (54 boys and 23 girls) with isolated GHD were analysed for changes in metacarpal thickness, width, length, medullary diameter, the Bone Health Index (BHI) and bone age (BA) from one year preceding until four years after s...

hrp0092rfc10.4 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

qPCR Screening for Xp21.2 Copy Number Variations in Patients with Elusive Aetiology of 46,XY DSD

Meinel Jakob , Dwivedi Gaurav , Holterhus Paul-Martin , Hiort Olaf , Werner Ralf

Duplications of the dosage sensitive sex locus Xp21.2 have been associated with 46,XY gonadal dysgenesis (GD) for nearly 25 years. In the past, duplications have always included the NR0B1 (nuclear receptor subfamily 0 group B, member 1, also known as DAX1) gene, a known antagonist of SF1 (Steroidogenic Factor 1) dependent SOX9 (SRY Box 9) activation and the GD was attributed to its "double gene dose". However, recent findings have questioned the neces...

hrp0092p1-12 | Adrenals and HPA Axis | ESPE2019

Trientine Treatment Mimicking Severe Hyperandrogenism

Binder Gerhard , Weber Karin , Wudy Stefan A. , Holterhus Paul-Martin , Hartleif Stefan

Drugs can interfere with immunoassays causing false measurements. Trientine (triethylene tetramine dihydrochloride) is a chelator of copper and is used in the treatment of patients with Wilson's disease as alternative for penicillamine. Trientine mainly increases urinary copper excretion leading to a negative copper balance. Serum concentrations of trientine reached under treatment are not known. This is the first report of an interference of trientine with two chemilumine...

hrp0092p1-18 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Nephrocalcinosis in Children with X-Linked Hypophosphatemia: Prevalence and Risks Factors

de Truchis Camille , Zhukouskaya Volha , Auger Martin , Rothenbuhler Anya , Linglart Agnès , Grapin Mathilde

X-linked hypophosphatemia (XLH) is diagnosed in children with clinical and or radiological signs of rickets, impaired growth velocity, low serum phosphate levels associated with renal phosphate wasting, in the absence of vitamin D or calcium deficiency. Conventional treatment is made of phosphate and active vitamin D. However, nephrocalcinosis has been identified as a complication of this therapy. Its prevalence is about 25-40% in adult XLH treated patients. It was never c...

hrp0092p1-89 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Clinical Outcomes in Primary Empty Sella (ES) Syndrome in Childhood-Onset Growth Hormone Deficiency: Data from KIGS (Pfizer International Growth Database)

Maghnie Mohamad , Carlsson Martin , Aydin Ferah , Camacho-Hübner Cecilia

Background: The incidence of ES in children varies greatly depending on the population surveyed, ranging from 1.2%-9% to 68% (children without and with known endocrinopathies, respectively). MRI is the main diagnostic tool for screening pituitary and in a previous KIGS study, 3.0% of patients with GHD were identified with ES and 7.8% with pituitary hypoplasia (Maghnie et al, EJE (2013).Aim: T...

hrp0092p1-379 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Adult Height Prediction by Bone Age Determination in Children with Idiopathic Growth Hormone Deficiency (IGHD): Analysis of KIGS Data

Reinehr Thomas , Carlsson Martin , Chrysis Dionisios , Camacho-Hübner Cecilia

Background: The precision of adult height prediction by bone age determination in children with idiopathic growth hormone deficiency (IGHD) is unknown.Patients and Methods: The near adult height (NAH) of patients with IGHD with prepubertal onset of growth hormone treatment (GH) in the KIGS database was compared to adult height prediction based on bone ages (BA) >7 years using the Bailey Pinneau (BP) or Tanner-Whiteho...