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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

Free Communications


hrp0084fc11.1 | Neuroendocrinology | ESPE2015

Mutations in BRAF are Associated with Septo-Optic Dysplasia and Cardiofaciocutaneous Syndrome

Besser Rachel , Gregory Louise , Davies Justin , Dattani Mehul

Background: Mutations in BRAF are a rare cause of cardiofaciocutaneous syndrome (CFC). Recently, BRAF mutations have been reported in papillary craniopharyngiomas, but have not been described in patients with other hypothalamo-pituitary abnormalities. We describe three patients with CFC and septo-optic dysplasia (SOD) associated with heterozygous BRAF mutations.Cases: Patients presented in childhood with clinical features of ge...

hrp0084fc11.2 | Neuroendocrinology | ESPE2015

Functional Characterisation of a POU1F1 Mutation Unexpectedly Associated with Isolated Growth Hormone Deficiency (IGHD): A Novel Aetiology of IGHD

Sobrier Marie-Laure , Tsai Yu-Cheng , Perez Christelle , Leheup Bruno , Bouceba Tahar , Duquesnoy Philippe , Sizova Daria , Liebhaber Stephen , Cooke Nancy E , Amselem Serge

Background: In humans, the GHN gene transcription is under the control of a Locus Control Region (LCR) enhancer, HSI, located 14.5 kb 5′ to the hGHN promoter. POU1F1, a pituitary-specific transcription factor, plays an essential role in the specification of the somatotroph, lactotroph and thyrotroph lineages and the activation of GHN, PRL and TSH gene transcription. All POU1F1 mutations so far reported have been linke...

hrp0084fc11.3 | Neuroendocrinology | ESPE2015

Next Generation Sequencing: Towards a new Clinical Frontier in the Diagnosis and Management of Pituitary Tumours

McCabe Mark , Cowley Mark , Tao Jiang , Dias Kerith-Rae , Thompson Tanya , Dinger Marcel , McCormack Ann

Background: In the past few years, new genes involved with familial predisposition to pituitary tumour development have been recognised, including AIP and SDHx. These factors are likely to underestimate the occurrence of familial pituitary tumour predisposition, commonly thought to account for 5% of all pituitary tumours. Furthermore, the clinical management of aggressive pituitary tumours is challenging, particularly when tumours exhibit resistance to standa...

hrp0084fc11.4 | Neuroendocrinology | ESPE2015

Idiopathic Multiple Pituitary Hormone Deficiency (IMPHD): Radiological and Perinatal Factors

Ginige Nimasari , Kirk Jeremy M W , MacPherson Lesley K R

Background: Most cases of multiple pituitary hormone deficiency (MPHD) are acquired and genetic aetiology is rare in the UK. We have investigated whether environmental factors are implicated in ‘idiopathic’ MPHD (IMPHD).Objective and hypotheses: In IMPHD to determine perinatal risk factors and radiological features; to identify the regional epidemiology.Method: Systematic analysis of paediatric IMPHD cases in the UK West ...

hrp0084fc11.5 | Neuroendocrinology | ESPE2015

Endocrinopathy after Intracranial Germ Cell Tumours (IGCT) is Disease Not Radiation-Related: Two Decades of Surveillance in a Large Tertiary Paediatric Cohort

Dimitrakopoulou Eftychia Ioanna , Chow Jasmine , Spoudeas Helen , Ederies Ash

Background: Childhood IGCT are rare, malignant tumours of the pituitary stalk and pineal region, highly curable (>90%) by multimodal therapies. Neuroendocrine outcomes are thus important. Deficits increase over time but, without longitudinal studies, it remains unclear whether they are primarily disease or treatment related.Objective and hypotheses: To determine, by longitudinal retrospective analysis in survivors, tumour- and treatment-related facto...

hrp0084fc11.6 | Neuroendocrinology | ESPE2015

Long-term Outcome of Patients Treated for Paediatric Cushing’s Disease

Yordanova Galina , Lee Martin , Afshar Farhad , Sabin Ian , Alusi Ghasan , Plowman Nicholas , Evanson Jane , Matson Mattew , Grossman Ashley , Akker Scott , Monson John , Drake Wiliam , Savage Martin , Storr Helen

Background: Due to the rarity of Paediatric Cushing’s disease (CD) there is limited data on the long-term consequences of treatment.Objective and hypotheses: We assessed recurrence, anterior pituitary function and psychiatric disorders in a group of paediatric CD patients treated in a single centre.Method: Retrospective review of 20 patients with CD, mean age 11.75 years (5.74–17.8), managed in our centre between 1986 and...