Endocrine Abstracts

Spindle Cell Oncocytoma (SCO) is a neoplasm of the adenohypophysis, often pre-operatively misdiagnosed as pituitary macroadenoma due to its rarity. First described in 2002, 28 cases have been described. It is a benign tumour manifesting in adults with no sex predilection, classified as WHO Grade I. A 71-year-old woman presented with bitemporal hemianopia, secondary hypoadrenalism, hypothyroidism and hypogonadotrophic hypogonadism. Imaging in October 2017 confirmed a 18.0×...

Introduction: There are many causes of rhabdomyolysis, with Carbimazole, the first line treatment for hyperthyroidism, being one of the rarest. Rhabdomyolysis can potentially cause significant morbidity and mortality if left untreated.Case: A 38 year old female presented to the Emergency Department in May 2018 with a 4 day history of severe sudden onset bilateral thigh pain. Her only prior health problem was primary hyperthyroidism for which she had been...

Introduction: Copeptin is the C-terminal fragment of proAVP and secreted in equimolar amounts with AVP. While AVP is unstable in vitro and has proved difficult to measure in clinical practice, copeptin is relatively stable and can be measured using an automated immunoassay. Therefore copeptin measurement offers potential as a more practical alternative to the direct measurement of AVP in the investigation of polyuria/polydipsia.Methods: AVP, cop...

Background: We recently reported the first human mutation in mini-chromosome maintenance homologue 4 (MCM4) in a cohort of patients with adrenal failure. We now report the endocrine phenotype of 14 patients with MCM4 mutations.Methods: Patients case notes were examined and investigations performed to fully assess adrenal function, pubertal development, gonadal function and growth.Results: 13 of 14 patients have developed isolated g...

Introduction: Steroidogenic factor-1 (SF-1) is encoded by the NR5A1 gene on chromosome nine and is a nuclear receptor involved in adrenal and gonadal development and differentiation. There is wide phenotypic variation in individuals with NR5A1 mutations, but little is known about the natural course of patients during puberty. This study reports the case of a phenotypical female who showed profound virilisation at puberty due to a mutation in the NR5A1 gene.<p class="abstex...

Background: Hyponatraemia is the most common electrolyte abnormality, encountered in up to 30% of inpatients. Inappropriate management can have serious implications for patients; including demyelinating disease, coma, and death.Methods: Patients (n=122) admitted to the medical admission unit of a district general hospital with a serum sodium (Na) <130 were selected for the study. All details including patient demographics, blood bio...

Introduction: Mutations in SLC29A3 lead to PHID and H syndromes, familial Rosai Dorfman Disease and Histiocytosis-lymphadenopathy plus syndrome. PHID syndrome is associated with short stature, pubertal delay, endocrine and exocrine pancreatic insufficiency. We report a new association of PHID syndrome with severe systemic inflammation, scleroderma-like changes and cardiomyopathy.Case report: A 12-year-old girl with PHID syndrome presented with shortness ...

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by resistance to the action of ACTH leading to glucocorticoid deficiency with preserved mineralocorticoid and gonadal function. In 1993 we identified mutations in the ACTH receptor (melanocortin 2 receptor; MC2R), although these only explained around 25% of cases. More recently a traditional homozygosity mapping approach identified mutations in a novel gene which we named melan...

Background: FGD is an autosomal recessive disorder causing glucocorticoid deficiency. Mutations in the ACTH receptor (MC2R) or the MC2R accessory protein (MRAP) cause FGD types 1 & 2 respectively. All the reported MRAP mutations result in abolition of a functional protein. This is reflected clinically as type 2 patients present early, no patient described to date has presented later than 1.6yrs. In contrast FGD type 1 mutations are usually missense and patients have a medi...

Sepsis continues to be a leading clinical problem, with ~1.8 million people worldwide affected. This continual increase in sepsis and related deaths is in part due to age, increased frequency of invasive procedures and widespread bacterial antibiotic resistance, with mortality often related to underlying disorders that often accompany sepsis. Sepsis affects the brain, and the impairment of brain function is often associated with severe infectious disease1. The endog...