Endocrine Abstracts

Autoimmune Polyglandular Syndrome (APS1), also known as Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), is a rare but frequently debilitating disorder, usually presenting in childhood and adolescence; it is typically caused by homozygous AIRE mutations. The cardinal manifestations are chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism and autoimmune adrenal insufficiency; the development of any two of these three classic features leads to...

The ability to adapt to changing environmental stimuli, such as the availability of food, is essential for the survival of species. As such, complex mechanisms have evolved to maintain metabolic homeostasis during periods of nutritional challenge. In 2007, the Fibroblast Growth Factor 21 (FGF21) was identified as a nuclear receptor-regulated hepatokine that is induced during starvation. Since then, considerable effort has been devoted to elucidate the breadth of actions of FGF...

Maturity-onset diabetes of the young (MODY) is a group of monogenic disorders of β-cell function which causes diabetes in young adults. Diagnosing MODY is important as the different subtypes have distinct first line treatments, e.g. low dose sulphonylureas in HNF1A mutations while no treatment is required in GCK mutations. This can lead to treatment changes including discontinuing insulin therapy. First degree family members can also be offered diabetes scre...

Introduction: The measurement of male androgens in most NHS laboratories is often limited to testosterone alone. To more accurately determine the androgen status in men the measurement of other androgens such as DHT and DHEA would be beneficial however these are difficult to measure without derivatisation. We report a combined LC–MS/MS assay for the measurement of testosterone, androstenendione, DHT and DHEA on a small sample volume.Methods: Zinc su...

Introduction: Prader Willi syndrome is a genetic disorder associated with learning disability, hyperphagia and obesity which leads to early development of obesity related complications. The weight and appetite management remains a challenge with not much success with appetite suppressant drugs and bariatric surgery.GLP-1 receptor analogues appear to be a promising alternative given their effect on appetite control, weight loss and HbA1c and were shown to...

Introduction: Most clinical laboratories use immunoassays to measure estradiol despite limitations such as poor specificity, poor sensitivity and wide variability between different manufacturers’ assays. LC–MS/MS assays overcome the issues of sensitivity and specificity however the methods reported in the literature often involve complex sample preparation and lengthy run times. We describe a simple, rapid assay for the simultaneous measurement of serum estradiol and...

Introduction: Testosterone measurement by liquid chromatography tandem mass spectrometry (LC-MS/MS) is well accepted as the preferred technique for the analysis of serum testosterone in both males and particularly females. However variation is seen between LC-MS/MS assays and is most likely to be due to method differences between laboratories. One area of inconsistency amongst routine LC-MS/MS assays is the choice of internal standard. We investigated the effects of three inte...

Introduction: Prednisolone is well known to interfere in routine immunoassays for cortisol with uncertainty surrounding the degree of this interference. Methods using tandem mass spectrometry technologies offer more specificity, however there have been some reports of prednisolone interference in mass spectrometry assays. We aimed to characterise the extent of prednisolone interference in both an automated immunoassay and a tandem mass spectrometry method (TMS).<p class="a...

The cardiac effects of subclinical hypothyroidism (SCH i.e. increased circulating TSH with normal T4) have been documented. While overt hypothyroidism causes increased central arterial stiffness (CAS) and augmentation gradient (AI) 1, there are only limited data in SCH. We have measured CAS, AG and augmentation Index (AI) (AG/Pulse pressure x 100) in patients with SCH before and after L-thyroxine (synthroid) therapy.Peripheral pulse pressure w...

Mutations of the DAX-1 gene cause X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. Two half brothers (same mother, different fathers) were diagnosed as having Addison's aged14 years (brother A) and 7 years (brother B). Their mother had haemochromatosis being homozygous for the Cys 282 Tyr mutation of the HFE gene. Both had delayed pubertal development but defaulted from follow up. Brother A re-presented at 29 years of age with infertility. In view of t...