hrp0086lbp6 | (1) | ESPE2016

Children with Brain Tumors have Enhanced Visceral Adiposity Compared to Non-Cancer Controls: A Preliminary Analysis from the Canadian Study of Determinants of Endometabolic Health in Children Study

Wang Kuan-Wen , Fleming Adam , Burrow Sarah , de Souza Russell J. , Thabane Lehana , Samaan M. Constantine

Background: Survivors of childhood brain tumors (SCBT) are an emerging group that have premature mortality and morbidities that can negatively impact their quality of life and lifespan. Cardiovascular disease, obesity and diabetes are important causes of premature mortality in survivors, yet one of the major determinants of cardiometabolic risk i.e. visceral adiposity has not been determined in this group.Objective and hypotheses: This study is comparing...

hrp0082fc13.4 | Thyroid | ESPE2014

The Prevalence of Congenital Malformations in Infants with TSH Elevation on Newborn Screening: the Importance of Distinguishing Between True and Transient Congenital Hypothyroidism

Ouarezki Yasmine , Mansour Chourouk , Jones Jeremy , alghanay Abubaker , Smith Sarah , Stone David , Donaldson Malcolm

Backgrounds: The prevalence of congenital malformations (CM) is higher in infants referred with capillary (c) TSH elevation on newborn screening. However, establishing the prevalence of CM ± dysmorphic syndromes in true congenital hypothyroidism (CH) requires careful distinction between true and transient CH.Objective: To determine the prevalence of CM ± dysmorphic syndromes in all infants referred with TSH elevation on newborn screening in Sco...

hrp0082p1-d1-142 | Growth | ESPE2014

Parental Gonadal Mosaicism for a BRAF Mutation in Cardiofaciocutaneous Syndrome

Geoghegan Sarah , Morrissey Rose , Shorto Jeniffer , Ramsden Simon , O'Riordan Stephen , Green Andrew , O'Connell Susan

Background: Cardiofaciocutaneous syndrome (CFCS) is a rare autosomal dominant (AD) condition characterized by cardiac abnormalities, a distinctive craniofacial appearance and short stature. Endocrine manifestations include GH deficiency and precocious puberty. CFCS is part of the RASopathy group including Noonan, LEOPARD, and Costello syndromes. The four associated genes are BRAF (~75%), MAP2K1 and MAP2K2 (~25%), and KRAS (<2%). Most individuals represent new sporadic muta...

hrp0082p2-d1-268 | Adrenals &amp; HP Axis | ESPE2014

Analysis of Prospective Annual ACTH Stimulation Testing Among Survivors of Intracranial Tumor

Golekoh Marjorie , Mantravadi Manasa , Hornung Lindsey , Khoury Jane , Fouladi Maryam , Rose Susan , Lawson Sarah

Background: ACTH deficiency (ACTHD) is a potentially life-threatening condition observed in many childhood survivors of intracranial. Time from tumor diagnosis and therapy to development of ACTHD cannot be ascertained from previous studies. This lack of knowledge has led to annual surveillance using low-dose ACTH stimulation testing (LDST) for 10–15 years following completion of therapy.Objective and hypotheses: To identify the incidence and timing ...

hrp0082p2-d2-278 | Adrenals &amp; HP Axis (1) | ESPE2014

Do Neonates Need a Short Synacthen Test to Investigate the Adrenal Axis?

Niranjan Usha , Franklin Victoria , Bashir Imran , Martin Sarah , Gibson Alan , Wright Neil , Dimitri Paul

Background: There is limited evidence regarding the most appropriate method to investigate adrenal dysfunction in neonates. Our unit in Sheffield, UK measures a series of three serum cortisol levels to determine the need for a short synacthen test (SST). Other units use the SST as the first-line investigation in suspected adrenal insufficiency in neonates; however SST is more invasive with anaphylactic risk.Objective and hypotheses: To determine the prop...

hrp0082p2-d1-413 | Growth Hormone | ESPE2014

A Re-Evaluation of GH Secretion with Combined Test (GHRH+ARG/PD) in Children with Prader–Willi Syndrome

Fintini Danilo , Bocchini Sarah , Grugni Graziano , Brufani Claudia , Grossi Armando , Cappa Marco , Crino Antonino

Background: A reduced GH response to different stimulation tests have been documented in both children and adults with Prader–Willi syndrome (PWS), independently from obesity. Previous reports suggested the hypothesis of an age dependent derangement of the hypothalamus–pituitary axis occurring in PWS subjects.Objective and hypotheses: In this longitudinal study we re-evaluated the GH responsiveness to a combined test after long-term GH therapy ...

hrp0082p2-d2-471 | Growth (1) | ESPE2014

When and Why Should We Investigate the SRCAP Gene in Cases of Short Stature?

Lucas Luiza Silveira , Boycott Kym M , Nikkel Sarah M , Lucas Elizabeth Lemos Silveira

Background: The heterozygous mutation in the SRCAP gene (611421) on chromosome 16p11.2 causes a rare genetic disorder named Floating–Harbor syndrome (FHS). The clinical diagnosis of FHS is characterized by a triad of short stature with significantly delayed bone age; expressive language delay, usually in the presence of normal motor development; and a triangular face with prominent nose and deep-set eyes.Objective: To investigate the presence of SRC...

hrp0082p2-d1-591 | Thyroid | ESPE2014

Trends in Median Age at Guthrie Sampling, Laboratory Receipt, Notification, and Start of Treatment for Infants with TSH Elevation on Newborn Screening

Mansour Chourouk , Ouarezki Yasmine , Jones Jeremy , Smith Sarah , Donaldson Malcolm , Mason Avril

Background: Screening for congenital hypothyroidism (CH) has virtually eradicated the severe mental handicap associated with late or absent treatment. We have previously reported two audits of newborn screening for CH between 1979 and 2003 showing significant improvement from the first to more recent period.Objective and hypotheses: We aimed to audit the period 2004–2013 and report trends in timing of sampling, laboratory processing, delay between f...

hrp0084fc2.2 | Bone &amp; Mineral Metabolism | ESPE2015

Identification of Mutations in TBX1 and AIRE in Isolated Hypoparathyroidism Patients

Li Dong , Schnellbacher Sarah , Tian Lifeng , Hou Cuiping , Kim Cecilia , Hakonarson Hakon , Levine Michael

Background: Hypoparathyroidism may manifest either as an isolated disorder or as a component of a more complex syndrome. Molecular genetic studies indicate that mutations in PTH, CASR, GCM2 and GNA11 are causes of isolated hypoparathyroidism (IH) and mutations in GATA3, TBCE, FAM111A, AIRE and TBX1 are associated with different complex syndromes with hypoparathyroidism.Objec...

hrp0084p1-103 | Perinatal | ESPE2015

Molecular Characterization of a Novel Non-stop KCNJ11 Mutation Associated with a Dual Focal and Diffuse Hyperinsulinaemic Hypoglycaemia Phenotype

Arya Ved Bhushan , Aziz Qadeer , Flanagan Sarah E , Ellard Sian , Tinker Andrew , Hussain Khalid

Background: Hyperinsulinaemic hypoglycaemia (HH) has two main histological subtypes: diffuse and focal. Diffuse HH are most commonly due to recessive or dominant ABCC8/KCNJ11 mutations. Focal HH results due to somatic loss of the maternal 11p allele involving the ABCC8 and KCNJ11 region in patients with paternally inherited ABCC8 or KCNJ11 mutation.Aim: To molecular characterise a novel non-stop KCNJ11</em...