Endocrine Abstracts

A case of ectopic ACTH with severe opportunistic infectionECI Hatfield, S Pal, K Meeran, G Williams, JF Todd.Endocrine Unit, Imperial College, Hammersmith Hospital, London, UKA twenty six year old female presented with symptoms and signs suggestive of Cushing's Syndrome. Initial investigations showed hypokalaemia (potassium 2.3nmol/L), elevated urinary free cortisols, (3400, 18,000, 31,000 nmol/24 hour (NR <270)), diabetes (fasting glucose =9 mmol/L), loss of di...

Context: Germline mutations of the gene encoding succinate dehydrogenase subunit B (SDHB) predispose to head and neck paraganglioma (HNPGL), sympathetic PGL, phaeochromocytoma and renal cell carcinoma for which regular surveillance is required. SDHB-associated tumors harbor germline and somatic mutations, consistent with Knudson’s two-hit hypothesis stating that the combination of an inactivating germline mutation as a first hit and somatic loss of funct...

Background aim of the work: IGSF-1 encodes a plasma membrane immunoglobulin superfamily glycoprotein that is abundant in the pituitary and testis. Loss-of-function causes an X-linked syndrome which is mainly characterized by congenital hypothyroidism and macroorchidism.[1,2] Because of its relatively recent discovery and its very rare incidence, the time to diagnosis is often long. We present a case of IGSF1 deficiency case where it took 6 years before diagnosis was made. With...

Introduction: Insulinoma is a rare neuroendocrine tumour of the pancreas. Its resection is the only curative treatment. However, medical therapy may be needed to prevent severe preoperative hypoglycaemia, when surgery is contraindicated, delayed or refused and in case of unresectable metastatic disease. To our knowledge, a comparison between these two medications has never been performed.Case report: We describe the case of a 27-year-old patient without ...

Ketosis-prone, Jamaica (J) type diabetes is an uncommon form of diabetes described in a sub-population of mainly Afro-Caribbean patients who often present acutely with diabetic ketoacidosis (DKA) but during follow up demonstrate clinical, metabolic, and immunologic features of Type II diabetes. We present such a case.A 37-year old Afro-Caribbean man with a family history of Type II diabetes presented with polyuria, polydipsia and weight loss. He was over...

Orlistat and Metformin have both been shown to be beneficial in the treatment of Polycystic Ovarian Syndrome (PCOS), however, because Orlistat works by decreasing the absorption of dietary lipids, there is the potential to decrease absorption of lipophilic antioxidant substances with consequent decreased protection from oxidative stress. The objective of this study was to evaluate and compare the effect of treatment with orlistat vs. metformin on oxidative stress in pat...

Bone mineral density (BMD) is a highly heritable trait. We sought to investigate site and gender specificity of BMD inheritance in general pedigrees.Probands with primary osteoporosis and low BMD relative to an age- and sex- matched cohort (z-score <-2.0 at either lumbar spine (LS) or femoral neck (FN)) were identified from the Nuffield Orthopaedic Centre (Oxford UK) (45 male, 102 female). All available first- and second-degree relatives were recrui...

Bone loss in anorexia nervosa and following bariatric surgery is associated with an elevated circulating concentration of the gastrointestinal anorexigenic hormone peptide YY (PYY), which acts principally via the Y1R and Y2R receptors. Selective deletion of Y1R in osteoblasts or Y2R in the hypothalamus results in high bone mass, but deletion of PYY has resulted in conflicting skeletal phenotypes leading to uncertainty regarding its role in the regulation of bone mass. We hypot...

Introduction: It has been previously described that prolactinomas may have a more aggressive behaviour in men than in women.Methods: We performed a retrospective study in 59 patients diagnosed of prolactinoma (19 men). The variables collected were: age at diagnosis, clinical presentation, tumor size and stage (Hardy classification) and treatment response. The results were compared between both genders.Results: Age at diagnosis was ...

Abiraterone acetate is a potent, selective inhibitor of CYP17, a key enzyme that catalyses the conversion of pregnenolone to dehydroepiandrosterone (DHEA) and progesterone to androstenedione. Inhibition of this enzyme causes suppression of the synthesis of both androgens and oestrogens. Hence treatment with abiraterone acetate could impact on the development and progression of hormone-dependent breast and prostate cancers.In a phase I/II1,2 st...