Endocrine Abstracts

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...

Background: GH deficiency has been reported widely in association with myelomeningocele and other pituitary hormone deficiencies occur less frequently. Following an episode of adrenal crisis in a newborn infant with myelomeningocele and multiple pituitary hormone deficiencies we introduced a policy of screening affected, newborn infants for pituitary insufficiency, focusing on thyroid function and cortisol levels.Patients and methods: Data from 26 infant...

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...

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...

Aims: Although rare, craniopharyngiomas are the commonest suprasellar tumour in childhood. Despite high overall survival, children and young people <19 years with craniopharyngiomas are at risk of multiple relapses and long-term tumour- and treatment-related morbidity. We sought to provide, for the first time, a national standard for best practice based on currently available evidence for the assessment, treatment and follow-up of paediatric craniopharyngiomas under the au...