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ea0033oc1.9 | Oral Communications 1 | BSPED2013

Genetic characterisation of short children with potential defects of GH action by single gene sequencing

Kowalczyk Julia , Gevers Evelien F , Savage Martin O , Dunkel Leo , Metherell Louise A , Storr Helen L

Background: GH resistance or primary IGF1 deficiency (PIGFD) presents with growth failure, low serum IGF1 and normal/elevated serum GH. PIGFD comprises a spectrum of phenotypic and biochemical abnormalities for which genetic GHIGF1 axis defects may be causative.Objective: Genotyping of PIGFD patients referred for sequencing of candidate genes.Methods: From 2008 to 2013, 62 patients (42 males and 20 females), median age 6.9 ye...

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ea0066oc4.4 | Oral Communications 4 | BSPED2019

A novel clinical risk score that accurately predicts recurrence of craniopharyngioma – a multicentre cohort study

Kyprianou Nikolina , Blackburn James , Tan Rachael , Korbonits Marta , Dattani Mehul , Dutta Pinaki , Bhansali Anil , Rai Ashutosh , Ribalta Teresa , Bulfamante Gaetano Pietro , Massa Valentina , Roncaroli Federico , Evanson Jane , Skoric Tanja , Kastelan Darko , Gnanalingham Kanna , Mitchell Rod , Bulfamante Antonio Mario , Argente Jesus , Goycoolea Andres , Torales Jorge , Biagetti Betina , Audi Laura , Resmini Eugenia , Webb Susan M , Kapoor Ritika R , Chandler Christopher , Sampron Nicolas , Preda Cristina , Ahmad Amar , Gevers Evelien F Pease , Gaston-Massuet Carles

Introduction: Craniopharyngiomas (CPs) are histologically benign tumours but are clinically associated with significant morbidity and mortality. Recurrence of CPs is known to influence mortality, but apart from the extent of surgical resection, no clinical characteristics have been shown to predict recurrence. Complete resection is difficult due to their infiltrative behaviour and unacceptable morbidity. Thus, predictors of risk of recurrence are needed....

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Endocrine Abstracts

Genetic characterisation of short children with potential defects of GH action by single gene sequencing

A novel clinical risk score that accurately predicts recurrence of craniopharyngioma – a multicentre cohort study

BiosciAbstracts