Endocrine Abstracts

I would like to present the case of a 66-year-old gentleman with McCune–Albright syndrome. This unusual condition consists of three main features; namely, polyostotic fibrous dysplasia, café au lait patches on the skin and hormonal abnormalities, including acromegaly.The presentation will look briefly at these three elements and the investigations leading up to diagnosis. However, the main focus will be on the psychological impact illness has h...

Background: Resistant Hypertension is defined as uncontrolled high BP despite treatment with at least three antihypertensive agents. The underlying cause is usually found to be phaeochromocytoma, Conn’s or renal artery stenosis (RAS). We would like to present two cases with difficult control of hypertension which did not fall into these categories.Case 1: History: 68 year old gentleman presented 2012 with >10 year history of hypertension. BP 200...

Objectives: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder caused by activin receptor-like kinase-2/activin A receptor type 1 (ALK2/ACVR1) mutation and characterized by heterotopic ossification (HO) inducing progressive restriction of mobility. IPN60130 is a selective ALK2/ACVR1 inhibitor being investigated for the treatment of FOP.1 Here, we describe methodology of the FALKON trial (NCT05039515) designed to compare efficacy a...

We present a 45-year-old lady who initially presented with neurological symptoms and MRI was noted to show asymmetry of the pituitary gland. There were no endocrine symptoms. In 2011 she developed some visual symptoms (not typical of pituitary disease) and was referred to the ophthalmic department. MRI scan showed an 11 mm right-sided pituitary lesion and she was referred to the endocrine department. She gave a 2-year history of feeling increasingly unwell with back pain, sens...

The low dose dexamethasone suppression test (LDDT) is used routinely to exclude Cushings. This test can also be used to exclude androgen secreting tumours in females with elevated testosterone levels through normalisation of, or >40% suppression of serum levels.We have audited the use of the LDDT to assess its value in investigating women with raised androgens, to ascertain whether it reduced the need for other investigations and to identify any prob...

We would like to present a case which, through unexpected results, caused us to examine the communication, both written and verbal, that is provided to patients prior to undergoing dynamic tests in our unit, and which subsequently led to a change in our practice.A 48-year-old lady was referred from the GP with a raised testosterone of 5.0 nmol/l (reference range 0.2–2.9 nmol/l), irregular periods and late onset hirsutism. A low dose dexamethasone te...

A key mechanism of persistent cell survival under testosterone suppression in advanced prostate cancer (PC) is continued Androgen Receptor (AR) activation. This results from AR mutation, overexpression, hyper-activation, and/or expression of constitutively-active AR transcript variants (AR-Vs). AR has an unusually long 3’ untranslated region (3’UTR), which performs vital regulatory roles but is remarkably understudied. Its contribution to continued AR activation unde...

Cushing’s syndrome in pregnancy is rare and is associated with increased fetal and maternal morbidity. It has previously been described in the presence of ectopic LH receptor expression, and has been associated with gestational diabetes and preeclampsia but to our knowledge has never been associated with any other endocrine pathology.We here report a 34-year-old woman, who presented with hypertension, weight gain, fluid retention and easy bruising a...

Introduction: Long-term repression of the HPA axis is a major side effect of chronic glucocorticoid administration, even after attempted withdrawal of therapy, and complicates management in patients. We have previously shown that the effect of chronic glucocorticoid treatment in vitro is in part mediated by inhibition of expression the POMC transcription factors Neuro D1 and Tpit, and that this is sustained on treatment withdrawal. We have now furth...

Introduction: Guidelines suggest definition for cure in acromegaly is to achieve a nadir growth hormone (GH) <2 mU/l during a growth hormone suppression test and a normal IGF-1 level (Gustina 2000). Following an earlier retrospective audit (Brown et al. 2002), showing limited achieved cure success, we re-audited our patients.Methods: All patients with acromegaly were invited to undergo growth hormone suppression test and IGF-1measurement over ...