hrp0092rfc14.6 | Adrenals and HP Axis | ESPE2019

Growth Hormone Deficiency (GHD): Assessing Burden of Disease in Children and Adolescents: The Growth Hormone Deficiency – Child Impact Measure (GHD-CIM)

Brod Meryl , Højby Rasmussen Michael , Vad Knud , Alolga Suzanne , Bedoin Jacques

Background: Children with growth hormone deficiency (GHD) may have to deal with practical, emotional, and functional difficulties. Unfortunately, to date, there is no condition specific measure of the impact of GHD for these children. The Growth Hormone Deficiency – Child Impact Measure (GHD-CIM) was developed according to FDA/EMA guidances to address this gap. There are two GHD-CIM versions: child self-report (PRO) for ages 9 to <13 years and observe...

hrp0092p1-21 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Dual X-ray Absorptiometry in Children With Hypophosphatasia Treated with Asfotase Alfa: A Pooled Post Hoc Analysis

Simmons Jill H. , Rush Eric T. , Petryk Anna , Zhou Shanggen , Martos-Moreno Gabriel Á.

Hypophosphatasia (HPP) is a rare, inherited, systemic disease characterized by deficient tissue-nonspecific alkaline phosphatase activity. Common manifestations in children include impaired skeletal mineralization, short stature, and reduced physical function. Asfotase alfa is an enzyme replacement therapy approved for treatment of patients of any age with pediatric-onset HPP. The utility of dual X-ray absorptiometry (DXA) as a diagnostic tool or measure of treatment effective...

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...

hrp0092p1-91 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Panhypopituitarism Due to a Novel Heterozygous IVS11-2AC(c.1957-2AC) Mutation in GLI2 Gene

demiral meliha , unal edip , kardas burcu , demirbilek hüseyin , ozbek mehmet nuri

Objective: Glioblastoma 2 (encoded by GLI 2 gene), is an activating zinc-finger transcription factor, involved in the Sonic Hedgehog pathway and embryogenesis of diencephalon and distal extremities Heterozygous mutations of GLI2 gene cause a wide range of clinical phenotype known as holoprosencephaly and holoprosencephaly-like syndrome, pituitary insufficiency, mid-facial hypoplasia, and polydactyly. We, herein, report a novel heterozygous IV...

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...

hrp0092p1-371 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Growth Hormone Deficiency (GHD): Assessing Parent Burden for Child Growth Hormone Deficiency Treatment: The Growth Hormone Deficiency - Parent Treatment Burden Measure (GHD-PTB)

Brod Meryl , Rasmussen Michael Højby , Vad Knud , Alolga Suzanne , Bedoin Jacques

Background: Treatment for child GHD requires daily injections, which can be painful and disruptive. For most children, these injections are administered by an adult, usually their parent. Unfortunately, little is known about the burden that a child's treatment places on a parent. The GHD-PTB was developed according to FDA/EMA guidances to address this gap. Items were based on qualitative interviews of 31 parents of children with GHD, ages 4 to <13 year...

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...

hrp0092p3-70 | Diabetes and Insulin | ESPE2019

Indicators of Caries Risk in Children with Type 1 Diabetes Mellitus

M El-Tekeya , M El Tantawi , H Fetouh , Mowafy Ehsan , Khedr N Abo

Purpose: was to evaluate the interaction of caries risk indicators and metabolic control in children with type 1 diabetes mellitus.Methods: The study included 50 children with type 1 DM and 50 healthy controls. Diabetic children were classified into 3 groups: well, fairly, and poorly controlled based on glycosylated hemoglobin level. Personal, family data, medical and dental history were collected. Children were examined...

hrp0089p3-p020 | Adrenals and HPA Axis P3 | ESPE2018

A Neonatal Case with Familial Glucocorticoid Deficiency Type 1 Having Adrenal Crisis in Early Period

Keskin Mehmet , Koklu Esat , Kaplan Emel H Aytac , Karaoglan Murat , Karaer Kadri , Keskin Ozlem

Objective: Familial glucocorticoid deficiency (ACTH resistance); is a rare chronic adrenal insufficiency problem. Genetic tranmission is autosomal recessive. Glucocorticoid deficiency is characterized by increased ACTH levels and normal or partial incomplete aldosterone production. The familial glucocorticoid deficiency, which is a defect in the melanocortin receptor. Hypoglycemia, convulsions, increased pigmentation in the skin can be seen from the earliest stages of life.</p...

hrp0089p2-p108 | Diabetes &amp; Insulin P2 | ESPE2018

Severe Stress-Induced Subcutaneous and Intravenous Insulin Resistance in an Eight Year Old Boy with T1DM, Necessitating Seven Months of IV Insulin, Reversed after Psychiatric Treatment

Ommen CCN van , Hoorweg-Nijman JJG , Stuart H , Deschamps PKH , Stuart AA Verrijn

Background: Persistent severe insulin resistance (IR) in T1DM is infrequent, complex to handle and disabling. Genetic and epigenetic factors play a significant role in the pathophysiology of IR. This case report discusses the potential role of habitual and stress-inducing environmental factors in a school-aged boy with a neurodevelopmental disorder.Case report: We present an eight year old boy with a three year history of T1DM (GAD positive) regulated by...