Endocrine Abstracts

Background: Adamantinomatous craniopharyngiomas (ACPs) are rare, benign, epithelial tumours of the sellar-suprasellar region. Craniopharyngiomas cause considerable morbidity and mortality due to local invasion and treatment-related damage to surrounding structures, including the hypothalamus and pituitary gland, leading to hypopituitarism and diabetes insipidus (DI). Trametinib is a highly selective mitogen-activated protein kinase (MEK) inhibitor, which has been recently used...

Background: Neuroblastoma investigations and treatments are associated with thyroid dysfunction. This study aims to identify the consequences of different neuroblastoma investigations and treatments on the thyroid status of patients.Methods: This is a retrospective cohort study of neuroblastoma patients at a tertiary paediatric endocrinology/oncology centre. Electronic records were reviewed for previous treatments (chemotherapy, surgery, radiotherapy, an...

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominantly inherited condition predisposing to primary hyperparathyroidism (PHPT), pituitary tumors, gastroenteropancreatic tract neuroendocrine tumors (NET), thymic tumours and skin lesions. Clinical features are rare in the paediatric population and guidance exists on the screening for complications of MEN1.Objective: To describe clinical features and treatment outcomes in a sin...

Introduction: There are currently no recommendations on the assessment, investigation and follow-up for girls presenting with concerns regarding puberty with background of complex disability who are non-weight bearing.Aim: Service evaluation (assessment, investigation and follow-up) of girls presenting with any of Central Precocious Puberty (CPP), Early Puberty (EP), Delayed Puberty (DP) or period management with background of immobility in context of co...

Background: Turner Syndrome (TS) is a complete or partial loss of the second X chromosome affecting approximately 1:2000 females, classically associated with short stature and hypogonadism. Cardiovascular complications in TS include increased risk of congenital cardiac malformations, hypertension, ischaemic heart disease and aortic dissection. Cardiovascular related deaths account for over 40% of the excess mortality in TS and requires lifelong monitoring and follow-up. The Cl...

Background: Patient information leaflets are widely used by clinicians to reinforce and supplement information discussed during a consultation. This helps empower the patient and their family by enabling them to gain a greater understanding about their condition, investigation and/or treatment. However, despite the global increase in digital activity leaflets are still being disseminated in printed form. Accessing them online may be the more preferable option and would also mo...

Introduction: Down Syndrome is the commonest genetic disorder with a frequency of 1 in 700 births. Amongst many features associated with this condition, autoimmune and non-autoimmune endocrine disorders are some of the commonest manifestations. We present the case of a child with Down Syndrome with multiple autoimmune endocrine disorders and discuss the challenges she will face in her management as well as upon transition to adult services.Case Report: A...