hrp0084p3-1098 | Perinatal | ESPE2015

Case Presentation; a Neonate Presenting to a District General Hospital with Isolated Cranial Diabetes Insipidus Evolving to Partial Hypopituitarism

Keelty Gemma , Weerasinghe Kamal , Gregory John

Background: Hypernatraemia in a neonate can be common, and is usually due to high rates of insensible water loss and high urine output and subsequent dehydration. This is commonly resolved with supplementation of feeds.Case presentation: We present a preterm baby born at 35 weeks gestation who was born in good condition, did not require ventilation or intensive care support. The only support required was for feeding and thermoregulation. In the second we...

hrp0084p3-1122 | Pituitary | ESPE2015

Case Series; Central Diabetes Insipidus Presenting to a District General Hospital

Keelty Gemma , Weerasinghe Kamal , Gregory John

Background: In a paediatric setting polydipsia can be a commonly reported symptom which is usually innocent and habitual in nature. Diabetes Insipidus is a rare cause of pathological polydipsia. A high index of suspicion must be used in patients who exhibit other symptoms alongside polydipsia and investigations considered.Case presentation: We present three patients who have presented to a district general hospital within a short period of time with subs...

hrp0089p2-p255 | Growth & Syndromes P2 | ESPE2018

Clinical and Cost-Effectiveness of GH Treatment for Children in Wales

Pop Raluca-Monica , Warner Justin T. , Gregory John W.

Background: GH treatment has been used for the last 30 years for children with short stature with varying individual responses.Objective: Analysis of final height SDS (standard deviation score) and the factors influencing it in children treated with growth hormone.Material and methods: Subjects across Wales who received GH treatment, part supervised by tertiary center staff and reached final height while on treatment, were identifi...

hrp0086p1-p568 | Perinatal Endocrinology P1 | ESPE2016

A Rare Case of Neonatal Hypothyroidism

Eyton-Chong Chin Kien , Gregory John , Teoh Yee Ping , Weerasinghe Kamal

Case study: Baby A, a boy was delivered at 33 weeks gestation (birth weight 1.545 kg, 9th centile) by emergency caesarean section following maternal preeclampsia. He did not require any resuscitation at birth. He is the second baby of non-consanguineous Asian parents with no family history to note. Both parents are healthy and there was no history of maternal medication use. Baby A experienced respiratory distress syndrome and suspected sepsis. He developed a heart murmur, con...

hrp0086rfc5.2 | Management of Disorders of Insulin Secretion | ESPE2016

Limits of Agreement between HbA1c Levels Measured in Different Laboratories Following the Introduction of the International Federation of Clinical Chemistry and Laboratory Medicine Standardised Values

Arch Barbara , McKay Andrew , Newland Paul , Blair Joanne , Gregory John , Peak Matthew , Didi Mohammed , Thornborough Keith , Gamble Carrol

Background: Between 2011 and 2015, 294 children from 15 UK centres were randomised to the SCIPI study (SubCutaneous Insulin: Pumps or Injections?), which compares insulin delivery by pump to multiple daily injections, during the first year following diagnosis of type I diabetes. HbA1c is measured every 3 months, locally by (1) a ‘point of care’ device or a local laboratory and (2) a central laboratory. Since 2009 HbA1c assays have been calibrated against the Internat...

hrp0094p2-19 | Adrenals and HPA Axis | ESPE2021

Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years

Buonocore Federica , Maharaj Avinaash , Qamar Younus , Koehler Katrin , Suntharalingham Jenifer P. , Chan Li F. , Ferraz-de-Souza Bruno , Hughes Claire R. , Lin Lin , Prasad Rathi , Allgrove Jeremy , Andrews Edward T. , Buchanan Charles R. , Cheetham Tim D. , Crowne Elizabeth C. , Davies Justin H. , Gregory John W. , Hindmarsh Peter C. , Hulse Tony , Krone Nils P. , Shah Pratik , Shaikh Mohamad G. , Roberts Catherine , Clayton Peter E. , Dattani Mehul T. , Thomas N. Simon , Huebner Angela , Clark Adrian J. , Metherell Louise A. , Achermann John C. ,

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...