Endocrine Abstracts

Background: The management of Cushing’s disease can be challenging especially when patients can present with sepsis and severely immunocompromised with limited oral medications to achieve cortisol control. We review a case of Cushing’s disease and the medical management of Cushing’s disease.Case Report: A 54 year old female presented with symptomatic hyperglycaemia with truncal obesity, proximal muscle weakness, right posterior thorax haem...

Background: Congenital adrenal hyperplasia (CAH) is the underlying diagnosis in most newborns presenting with 46,XX disorders of sex development (DSD). Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of CAH caused by inactivating mutations in the POR gene. The hallmark feature of PORD is combined sex-steroid and glucocorticoid deficiency due to impairment of CYP17A1 and CYP21A2. Skeletal malformations resembling the Antley-Bixler Syndrome phenotype are common i...

Type 2 Diabetes Mellitus (T2DM) is associated with decreased bone quality and a higher prevalence of fractures. Sclerostin is an inhibitor of bone formation produced by osteocytes and its expression is elevated in serum of diabetic patients. We examined the effect of T2DM on bone architecture and sclerostin levels in a rat model of T2DM and the influence of hyperglycaemia on sclerostin production by bone cells in vitro. Bone architecture was measured by microCT in 14 ...

59-year-old gentleman with known succinate dehydrogenase complex subunit C (SDHC) gene mutation attended endocrine clinic with non-specific symptoms. Past medical history included glomus jugulare paraganglioma (PGL) surgically treated (1993, 2003) with residual disease, macroprolactinoma treated with cabergoline since 2010, and BPH treated with finasteride and tamsulosin. His brother has glomus vagale. Clinical examination was unremarkable. Plasma metanephrine ranged between 3...

We present the case of a 53 year old gentleman with recurrent bladder paraganglioma. He presented initially in 2010 with headache and blurred vision when passing urine. The tumour was surgically removed, BP normalized and his postoperative MIBG-scan was normal. The patient presented with hypertensive crisis 4 years later with a suspicion of tumor recurrence, confirmed biochemically and radiologically. Treatment with phenoxybenzamine and bisoprolol resulted in adequate BP contr...

Aim: To develop a cost effective and individualised service model for GH replacement therapy based on a joint decision making process with patients and commissioners.Background: At University College London Hospital (UCLH), we have a caseload of about 300 adult patients treated with GH. Our in house structured GH treatment proforma is used at the patient’s initial consultation for joint decision making on prescribing the most suitable GH, e.g. non-r...

Background: Following pituitary surgery, dynamic testing with insulin tolerance (ITT) or glucagon stimulation testing (GST) is used to identify patients with secondary hypocortisolism who require glucocorticoids. High glucocorticoid replacement doses are associated with adverse effects, and the optimal replacement dose is unknown.Aim: We aimed to assess the interpretation of dynamic testing post pituitary surgery in clinical practice and its relation wit...

Background: After pituitary surgery patients require HPA axis assessment, that is achieved with postoperative cortisol measurements and, in selected patients whose post-operative cortisol measurements are inconclusive, with the insulin tolerance test (ITT) and the glucagon stimulation test (GST).Aim: We aimed to assess the performance of the day 2/3 post-operative cortisol in predicting the HPA axis sufficiency as assessed by the ITT and the GST.<p c...

Introduction: Bilateral macronodular adrenal hyperplasia (BMAH) is a rare aetiology of Cushing syndrome. Familial clustering suggests a genetic cause that was recently confirmed, after identification of inactivating germline mutations in armadillo repeat containing 5 (ARMC5) gene.Clinical case: A 70 years old female admitted due to femoral neck fracture in May 2014, presented central obesity, rubeosis and hypertension. Laboratory work up reveale...

Introduction: Neuroendocrine tumors (NET) are heterogenous tumors with variable survival and the frequently occurring ability to metastasize. A basis for metastasis of tumors is invasive growth. One factor participating in this process is the existence of the so called ‘circulating tumor cells’ (CTC) in the peripheral blood. Up to now there is only rare data available regarding the number of CTCs in NET patients.Methods: EpCAM protein expressio...