Endocrine Abstracts

Introduction: Due to improved pediatric care, life expectancy of children with complex genetic syndromes (CGS) is increasing. Many children with CGS now do reach adult age and have to make the transition to adult endocrine healthcare. However, many adult endocrinologists are not yet prepared for the increasing number of adults with CGS. Although patients receive multidisciplinary (MD) care at the pediatric department, MD care is not yet available for most adults with CGS. Also...

Empty Sella (ES) represents a heterogeneous syndrome, with a completely unknown pathogenesis. Defects in the organogenesis or hypoplasia of the sellar diaphragm (associated with stable or intermittent variation of intracranial pressure and/or with pituitary volume variation) can facile the herniation of the arachnoid space into pituitary fossa and the consequently pituitary compression. ES can be the sequel of necrosis of pituitary adenomas, of hypophysitis or of brain/head tr...

We report the case of a 37-year-old woman with a 9-month history of intermittent and variable symptoms of anorexia, nausea & vomiting, muscular weakness and pain in association with recurrent hypoglycaemic episodes. The patient stated that she had episodes of myalgia with generalised weakness affecting mobility and a history of significant weight loss as a result of anorexia and nausea & vomiting. The patient had two previous hospital admissions with similar symptoms a...

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: Amenorrhea is a condition resulting from dysfunction of the hypothalamus, pituitary, ovaries, uterus, or vagina. Hyperprolactinemia is a relatively common endocrine disorder that produces amenorrhea by suppressing hypothalamic GnRH secretion. We describe a patient who had a Levonorgestrel intrauterine device (UID) since 5 years and who presented with amenorrhea in association with a macroprolactinoma.Case report: A 45 year- old -woman prese...

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...

Re-myelination in the adult CNS has been demonstrated in different experimental models of demyelinating diseases. However, there is no clear evidence that re-myelination is effective in multiple sclerosis (MS), the most diffuse demyelinating disease. Moreover, chronic disabilities in MS are believed to be due to remyelination failure and consequent neuron damage and degeneration. Due to the presence of numerous oligodendrocyte precursors inside demyelination plaques, reasons f...

Corticotropinomas represent only a small fraction of all the cases of pituitary adenomas, yet they have the potential for great morbidity and mortality. Presenting clinically as Cushing’s disease (CD), corticotropinomas are characterized at the molecular level by resistance to glucocorticoid negative feedback, dysregulation of proteins controlling cell cycle progression, and overexpression of pathways that sustain overactive ACTH production and secretion. Until recently, ...