Endocrine Abstracts

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant negative disorder characterised by the occurrence of multiple adenomas including hyperplasia and/or neoplasm of the parathyroid glands, pancreatic islets and pituitary glands. Germline mutations in the menin gene predispose to the MEN1 syndrome; however, about 10–20% of patients with MEN1 do not have a detectable menin mutation. Recently, a mouse strain with a MEN1-like phenotype has been re...

Introduction: We present the outcome for the first 21 patients undergoing neuronavigation–guided, endoscopic transphenoidal surgery for pituitary dependent Cushing’s disease in our centre since August 2001. All operations were consecutive, and undertaken by the same neurosurgeon and endoscopic nasal surgeon.Methods: Records are available for 20 cases. Pre and post operative management of cases was led by the endocrine team with standard assessm...

Case history/Investigations/Results and treatment: A previously healthy 36 year old female was admitted to a local intensive care unit with psychosis and intractable hypokalaemia. She had delivered a live preterm baby girl at 33 weeks gestation ten days previously. The hypokalaemia led to an endocrine consultation which revealed onset of symptoms in the third trimester, with no symptoms present pre-conception. Serum cortisol was 2,258 nmol/l with a nadir K+ of 2.2 mmol/l. She ...

Background: Primary aldosteronism (PA) is a common, curable and high-risk subset of hypertension, mandating detection. In all but the most severe cases, learned society guidelines recommend confirmatory testing. Whilst a variety of confirmatory tests exist, data describing their safety are limited. Concerns centre around the potential of some tests to precipitate hypokalaemia or a hypertensive emergency in a patient with PA on sub-optimal anti-hypertensive medication. In this ...

Loss of function of succinate dehydrogenase (SDH), caused by mutations in each of the 4 subunits – SDHA/B/C and D – is associated with development of phaeochromocytomas and paragangliomas (PPGLs). The mutations lead to loss of enzymatic activity and subsequent accumulation of the oncometabolite succinate, a driver of tumourigenesis. It is well established but poorly understood why mutations in SDHB are associated with more aggressi...

75% of patients presenting with a phaeochromocytoma (PCC) or paraganglioma (PGL) have no relevant family history, but a germline pathogenic variant is identified in 30–40%. In our genetic endocrine clinic, over 80% of patients with malignant PCC or PGL have SDHA/SDHB/SDHC/SDHD/MAX or FH pathogenic variants identified, confirming high heritability in severe disease.We describe a series of seven patients from fiv...

75% of patients presenting with a phaeochromocytoma (PCC) or paraganglioma (PGL) have no relevant family history, but a germline pathogenic variant is identified in 30–40%. In our genetic endocrine clinic, over 80% of patients with malignant PCC or PGL have SDHA/SDHB/SDHC/SDHD/MAX or FH pathogenic variants identified, confirming high heritability in severe disease.We describe a series of seven patients from fiv...

Tumour localisation in Cushing’s disease (CD) can be challenging; most are microadenomas and 50% are <5 mm in diameter. They are, therefore, often difficult to detect by conventional MRI. Volumetric MRI (3D-SGE, spoiled-gradient echo 3D sequence) is a high spatial resolution scanning technique which uses very thin slices (1 mm). Theoretically, this increases the probability of finding small pituitary lesions when compared to conventional (spin-echo, SE) MRI techniques...

Background: Succinate dehydrogenase B (SDHB) associated disease has been characterised by the presence of extra-adrenal paragangliomas with a high rate of metastatic transformation. There is currently no consensus as to the appropriate surveillance regimes for these subjects. We present the surveillance data from a single UK institution with an SDHB surveillance regime which includes annual MR imaging of the abdomen, biennial imaging of the neck, thorax and pelvis and annual u...

Background: The measurement of thyroglobulin (Tg) is important in the follow-up of patients with differentiated thyroid cancer (DTC), but interpretation is subject to interference by anti-thyroglobulin antibodies (TgAb). National guidelines recommend measurement of TgAb status but no consensus exists on how surveillance should be adapted in cases of TgAb positivity.Aims: To evaluate the impact of TgAbs on clinical management, in a single-centre cohort of...