hrp0086p2-p155 | Bone & Mineral Metabolism P2 | ESPE2016

Bisphosphonate Treatment of Hypercalcemia in a Child with Jansen’S Metaphyseal Chondrodysplasia

Sharwood Erin , Harris Mark

Background: Jansen’s Metaphyseal Chondrodysplasia is a rare autosomal dominant condition caused by activating mutations in the parathyroid hormone/parathyroid hormone related peptide receptor (PTH1R). It is associated with persistent PTH-independent hypercalcemia and hypercalciuria from an early age. Our patient, a 2 year old boy with genetically proven Jansen’s Metaphyseal Chondrodysplasia, developed bilateral medullary nephrocalcinosis secondary to persistent hyper...

hrp0084p3-961 | GH & IGF | ESPE2015

Characterisation of Children Born Small for Gestational Age within the Australian Indications for GH (GH) Therapy: An OZGROW Analysis

Hughes Ian , Harris Mark , Cotterill Andrew

Background: Small for gestational age (SGA) without subsequent catch up growth is an indication for GH treatment in Europe, the US, and Korea but not in Australia. However, many SGA are likely to be included under the ‘short stature and slow growth’ (SSSG) indication. It is unknown to what extent children born SGA are included in the Australian indications or how they differ from non-SGA patients within each indication and gender.Objective and ...

hrp0084p3-976 | GH & IGF | ESPE2015

Thyroid Function in Children with Prader-Willi Syndrome, the First 12 Months of GH Therapy

Musthaffa Yassmin M , Hughes Ian P , Harris Mark , Leong Gary

Background: Normal thyroid function is necessary for the optimal growth promoting effects of GH. Changes in the hypothalamic-pituitary-thyroid (HPT) axis following GH have been reported in subjects initially thought to be euthyroid. A specific group of patients, children with Prader-Willi syndrome (PWS), are thought to have a ‘vulnerable’ HPT axis.Objective and hypotheses: To evaluate the impact of paediatric GH therapy on thyroid hormone statu...

hrp0089rfc14.3 | Multisystem Endocrine Disorders | ESPE2018

Dysregulated Glucose Homeostasis in Congenital Central Hypoventilation Syndrome

Musthaffa Yassmin , Goyal Vikash , Harris Margaret-Anne , Kapur Nitin , Leger Juliane , Harris Mark

Background: Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder of respiratory control resulting from heterozygous polyalanine repeat expansions within the Paired-Like Homeobox 2B (PHOX2B) gene. A hypoglycaemic seizure in a 4-year-old girl with CCHS, lead to a more detailed examination of glycaemic control in a cohort of children with CCHS.Objective: To describe glucose homeostasis in children with CCHS.M...

hrp0086fc6.1 | Syndromes: Mechanisms and Management | ESPE2016

Ghrelin-Reactive Autoantibodies are Elevated in Children with Prader-Willi Syndrome Compared to Unaffected Sibling Controls

Crisp Gabrielle , Nyunt Ohn , Musthaffa Yassmin , Seim Inge , Chopin Lisa , Harris Mark , Jeffery Penny

Background: Prader-Willi Syndrome (PWS) is a complex genetic disorder characterised by developmental and growth abnormalities, insatiable appetite, and excessive eating (hyperphagia). Hyperphagia is thought to be driven by supraphysiological levels of the appetite stimulating hormone ghrelin; however, the underlying causes of hyperghrelinaemia in PWS are currently unknown. Recently, ghrelin-reactive autoantibodies (isotype IgG) were identified in non-genetic obesity and were f...

hrp0086p1-p814 | Syndromes: Mechanisms and Management P1 | ESPE2016

Changes to Thyroid Function (TF) Following Treatment with Growth Hormone (GH) Therapy in Children with Prader-Willi Syndrome (PWS)

Musthaffa Yassmin , Scheermeyer Elly , Hughes Ian , Harris Mark , Crock Patricia , Leong Gary

Background: Normal TF is necessary for optimal growth. Changes in the hypothalamic-pituitary-thyroid (HPT) axis following GH therapy are reported. GH therapy has been suggested to centrally inhibit TSH production as well as peripherally increasing T4 to T3 conversion which increases negative feedback on TSH production. Hypothalamic dysfunction is a feature of PWS, therefore these patients may be at risk of developing central hypothyroidism associated with GH therapy.<p cla...

hrp0082p1-d3-126 | Fat Metabolism &amp; Obesity (2) | ESPE2014

Dysautonomia and Acyl Ghrelin in Prader–Willi syndrome

Nyunt Ohn , Archbold Sinead , Donelly Jennifer , Jeffery Penelope , Cotterill Andrew , Davies Peter , Harris Mark

Background: Poor temperature regulation in Prader–Willi syndrome (PWS) suggests dysautonomia probably secondary to hypothalamic dysfunction. Autonomic nervous system (ANS) has control over orexigenic ghrelin.Objective and hypotheses: We aim to assess ANS function in PWS and its association with acyl ghrelin.Method: We recruited 16 genetically-confirmed children with PWS and 16 controls. Exclusion criteria were diabetes mellitu...