Abstract Search

ea0085p70 | Miscellaneous 2 | BSPED2022

Osteoma cutis and medulloblastoma due to heterozygous inactivating GNAS mutation – a rare association due to reduced GNAS expression in tissues

Suntharesan Jananie , Pizer Barry , Mallucci Conor , Ramakrishnan Renuka

Introduction: Primary Osteoma Cutis is associated with Albrights Hereditary osteodystrophy (AHO) due to inactivating GNAS mutation. It is inherited in an autosomal dominant or sporadic manner. Phenotype in GNAS mutation is varied due to parent specific gene expression. Maternally inherited GNAS mutation leads to hormone resistance, but paternally inherited mutation leads to AHO features without hormone resistance. Medulloblastoma is the most common m...

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ea0027p39 | (1) | BSPED2011

Treatment strategies and outcomes of paediatric Craniopharyngioma since 2005: a single centre experience

Upadrasta Swathi , Doss Arun , Mallucci Conor , Pizer Barry , Abernethy Laurence , Das Urmi , Dharmiaj Poonam , Didi Mohamed , Blair Jo

Background: The Craniopharyngioma service in our centre has changed since 2005 with a standardised preoperative assessment and a new approach to surgery and use of radiotherapy. We review the subsequent outcomes.Treatment strategy: Preoperative endocrinology: prior to dexamethasone therapy: standard dose short synacthen test (SST), thyroid function test (TFT), IGF1, LH, FSH, testosterone/oestradiol±GH stimulation test. Staging: MRI and tumour stagin...

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ea0036oc3.3 | Oral Communications 3 | BSPED2014

An analysis of meta-data from three UK centres on the sequelae of paediatric craniopharyngiomas over four decades

Tan Timothy Shao Ern , Gopal-Kothandapani Jaya Sujatha , Ikazoboh Esieza Clare , Skae Mars , De Vile Catherine , Ehtisham Sarah , Kamaly-Asl Ian , Mallucci Conor , Thorpe Nicky , Pizer Barry , Didi Mohammed , Blair Jo , Patel Leena , Spoudeas Helen , Clayton Peter

Background: The optimal management of paediatric craniopharyngiomas has been debated for years. Radical surgery aimed at complete resection (CR) was the approach for several decades, with higher reported rates of tumour control compared with incomplete resection (IR). The shift towards conservative surgery with adjuvant radiotherapy (DXT), aimed at reducing post-operative morbidities, especially hypothalamic and visual, has not been systematically studied.<p class="abstext...

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ea0039ep108 | Pituitary and growth | BSPED2015

Achieving a consensus on managing idiopathic thickening of the pituitary stalk through a national multidisciplinary forum, meeting virtually

Raman Nambisan Aparna Kesavath , Michaelidou Maria , Dimitrakopoulou Eftychia , Ederies Ash , Spoudeas Helen , Clayton Peter , Banerjee Indi , Visser Johannes , Blair Jo , Gevers Evelien , Dattani Mehul , Aquilina Kristian , Pettorini Benedetta , Albanese Assunta , Kamaly Ian , Korbonits Marta , Michalski Antony , Hargrave Darren , Pizer Barry , Chang Yen

Objectives: In 2010 we piloted a national multidisciplinary (MDT), meeting virtually to improve management of rare suprasellar (HPAT) tumours. In 2014 we reported centralised treatment decision-making in craniopharyngioma and now wished to examine whether centre based management of idiopathic thickening of the pituitary stalk (iTPS) differs and can be streamlined by wider debate. This might also inform current commissioned BSPED and CCLG guidance.Methods...

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ePoster

ea0036P78 | (1) | BSPED2014

Three year experience of a national interdisciplinary initiative to improve outcomes for children with hypothalamic pituitary axis tumours (HPATs) using multi-site videoconferencing for decision making on Behalf of the UK HPAT Interest Group

Morillon Paul , Perelberg Daniel , Losa Laura , Ederies Ash , Aquilina Kristan , Dorward Neil , Michalski Anton , Hargrave Darren , Chang Yen-Ching , Bozorgi Niloofar , James Samantha , Korbontis Marta , Drake William , Akker Scott , Mallucci Connor , Pizer Barry , Blair Jo , Kamaly Ian , Clayton Peter , Spoudeas Helen

Background: Childhood tumours of the hypothalamic pituitary axis (HPATs) are very rare and hence any single centre experience is limited. Without evidence-based guidance, treatment is individualised on a case basis. Survival rates are high, but at the expense of significant morbidity. Centralised care or wider multi-professional consultation may improve neuroendocrine and visual outcomes.Objective and hypotheses: 1. To facilitate multi-professional dial...

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Endocrine Abstracts

Osteoma cutis and medulloblastoma due to heterozygous inactivating GNAS mutation – a rare association due to reduced GNAS expression in tissues

Treatment strategies and outcomes of paediatric Craniopharyngioma since 2005: a single centre experience

An analysis of meta-data from three UK centres on the sequelae of paediatric craniopharyngiomas over four decades

Achieving a consensus on managing idiopathic thickening of the pituitary stalk through a national multidisciplinary forum, meeting virtually

Three year experience of a national interdisciplinary initiative to improve outcomes for children with hypothalamic pituitary axis tumours (HPATs) using multi-site videoconferencing for decision making on Behalf of the UK HPAT Interest Group

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