Endocrine Abstracts

Patients with non-functional FOXE1 (forkhead transcription factor) display congenital hypothyroidism, ‘spikey’ hair and other abnormalities. In the thyroid, FoxE1 controls migration of the developing gland and adult expression of thyroid specific genes. Our earlier studies demonstrated FOXE1 protein expression in keratinocytes of the epidermis and hair-follicle outer root sheath.We aimed to characterise the expression and functional activity of...

Background: Children with hyperinsulinaemic hypoglycaemia (HH) are at a high risk of brain injury, while children with ketotic hypoglycaemia (KH) are believed to be neurologically normal. Hippocampus is known to be susceptible to hypoglycaemia, and is one of the key structures in the memory system. Our objective was to ascertain if children with HH sustain greater hippocampal injury and memory deficits in comparison to children with KH.Methods: Twenty on...

Background and aims: Diabetes insipidus (DI) is a common complication after transsphenoidal surgery (TSS), but resolves in the majority of patients. We determined the osmolalities and timing of DI most that best predicted long-term outcome.Methods: Case series study randomly including 54 patients out of total 99 patients who underwent transsphenoidal surgery over 18 months. Follow up information was ascertained from clinic review or by telephone intervie...

We have evaluated the effectiveness of radiotherapy in three patients with recurrent symptomatic hypophysitis following surgical decompression.Case 1(54 F); presented with diabetes insipidus, hypopituitarism and a large hypophyseal mass. Following trans-sphenoidal surgery (TSS), a diagnosis of xanthomatous hypophysitis was made. Two years later severe headaches returned, and despite a second trans-sphenoidal procedure, visual acuity further deteriorated in the left eye...

Background: Children with hyperinsulinaemic hypoglycaemia (HH) are at a high risk of brain injury, while children with ketotic hypoglycaemia (KH) are believed to be neurologically normal, due to the absence and presence respectively of ketone bodies that act as an alternate fuel during hypoglycaemia. Our objective was to ascertain if children with HH sustain greater white matter (WM) injury in comparison to children with KH.Methods: Neurologically normal...

Background: Fibrodysplasia ossificans progressiva (FOP) is a rare, genetic and devastating disease characterized by progressive heterotopic ossifications (HO) in muscles, tendons, ligaments and fascia. The formation of HO leads to severe contractures and early death. There are no approved medications yet. The STOPFOP team identified AZD0530 (saracatinib) as a potent, low nanomolar inhibitor of the mutant ALK2 kinase which is the unique genetic driver of this rare bone disease....

Introduction: In 2017 the term ‘Atypical adenoma’ was removed from the WHO classification, and ‘High-risk adenomas’ was introduced as a term to classify those with rapid growth, radiological invasion, and a high Ki-67 proliferation index. In this retrospective cohort study we have sought to identify the clinical and histological characteristics which are associated with worse outcomes.Methods: Data: We created a dataset of 1793 pa...

Background: Pituitary metastases are a rare complication of systemic malignancy. The most common presentations of pituitary masses include visual field defects, headaches, and hypopituitarism, but cranial nerve palsies and diabetes insipidus are also recognised although unusual. We aimed to determine if these were more frequently associated with pituitary metastasis.Methods: We conducted a review of 944 patients undergoing pituitary surgery from a teachi...

Background: Cushing’s disease is caused by corticotroph tumours of the pituitary gland and the standard first-line treatment is trans-sphenoidal surgery. Published data from other centres describes post-operative endocrine remission achieved in 50–90% of cases.Table 1 Remission (cortisol <50)Cortisol (50–150 nmol/l)<td alig...