Endocrine Abstracts

Background: Phaeochromocytoma and paraganglioma (PPGLs) are rare neuroendocrine tumours arising from the adrenal medulla and paraganglia. Biochemical assessment relies on demonstrating elevated concentrations of catecholamines and their metabolites. Analytical methods for catecholamine and metanephrine measurement vary in sensitivity and specificity. We reviewed our biochemical work-up in order to optimise patient diagnosis.Methods: This retrospective au...

Vitamin D exists as two forms; D3 (UV) and D2 (plant derived). Measuring the metabolite 25-hydroxyvitamin D (25OHD) is routinely applied in research and clinical laboratories to assess vitamin D status. The Institute of Medicine and Society for Endocrinology have previously set recommended vitamin D guidelines based on combined 25OHD3 and 25OHD2 serum concentrations. In order to achieve accurate quantitation of these metabolites, the respective C3 epimers must be separately qu...

Background: Metyrapone is commonly used in medical management of Cushing’s syndrome. It inhibits 11-β hydroxylase, which catalyses the conversion of 11-deoxycortisol to cortisol. The adequacy of metyrapone blockade can be assessed either clinically or biochemically using a target mean serum cortisol 150–300 nmol/l. Cortisol is normally measured by immunoassay.Case report: A 21-year-old female presented with clinical and biochemical feature...

Background: Metyrapone inhibits 11-β hydroxylase and causes a subsequent rise in the cortisol precursor, 11-deoxycortisol. Cortisol measurements by immunoassays are susceptible to interference and reagent antibody cross-reactivity with cortisol precursors when used in patients receiving metyrapone treatment. Clinicians rely on clinical and biochemical features of cortisol excess for dose titration of this medical blockade. The extent of this interference remains unclear. ...

A 67-year-old lady was admitted through her General Practitioner with a history of reduced oral intake & unresponsiveness. She was diagnosed to have an insulinoma in 2012 and has been on diazoxide 75 mg thrice daily as she was deemed to be unfit for any surgical intervention. On clinical examination, she was pyrexial, tachycardic, hypoxic and had an initial GCS of 3. She was noted to have shingles on her chest & right basal coarse crackles.On adm...

Context: Nicotinamide nucleotide transhydrogenase (NNT) is a NADPH-generating mitochondrial proton pump with a central role in mitochondrial antioxidant pathways. Recent studies revealed inactivating NNT mutations in patients with familial glucocorticoid deficiency, indicating a selective susceptibility of the adrenal cortex to NNT deficiency and oxidative stress. Here we explored the potential value of NNT as a therapeutic target in adrenocortical cancer.<p class="abstext...

Context: Polycystic ovarian syndrome (PCOS) is the most common endocrine disorder in women of classic androgen synthesis. Recent work has highlighted that impaired DHEA sulfation results in enhanced androgen production. Here, we evaluated the relationship between DHEA and DHEAS and androgen excess and metabolic phenotype in PCOS.Patients and methods: We compared 65 women with PCOS to 35 healthy women matched for age and body mass index (BMI). All subject...

Introduction: The impact of ethnicity and socioeconomic status (SES) on glycaemic control in children with type 1 diabetes (T1D) is poorly understood in England and Wales.Methods: We studied 18 478 children and young people with T1D aged <19 years attending diabetes clinics in England and Wales and included in the 2012–2013 National Paediatric Diabetes Audit (NPDA). Self-identified ethnicity was categorized as white, Asian, black, mixed, other a...

Background: Cushing’s syndrome (CS) is caused by endogenous cortisol excess and is associated with significant morbidity. Twenty-four-hour urinary cortisol is one of the most useful tools to diagnose CS although it has limitations, especially in “mild” and “subclinical” forms of cortisol excess. We hypothesized that given the diurnal rhythm of physiological cortisol secretion, night-time urinary glucocorticoid excretion should be lower than day-time ex...

Nicotinamide nucleotide transhydrogenase (NNT) is a NADPH-generating mitochondrial proton pump with a central role in mitochondrial antioxidant pathways. Recent studies revealed inactivating NNT mutations in patients with familial glucocorticoid deficiency, indicating a selective susceptibility of the adrenal cortex to NNT deficiency and oxidative stress. Here we explored the potential value of NNT as a therapeutic target in adrenocortical cancer. We delineated the distinct ef...