Endocrine Abstracts

Congenital adrenal hyperplasia(CAH) and other disorders of adrenal steroid synthesis compromise synthesis of cortisol and aldosterone. Deficiency of 7-dehydrocholesterol-7-ene-reductase (DHCR7) in the Smith Lemli Opitz syndrome (SLOS) also affects cholesterol synthesis. New-born infants have dysmorphic facial features, microcephaly, second and third toe syndactyly and genital malformations. Later there is mental retardation and problems with cardiac and intestinal function thr...

Efficacy and Safety of High Dose Testosterone Therapy in Partial Androgen InsensitivityS. Bandyopadhyay, W.A.Watson, C. M.Park, P. Abraham, S. Philip, S. Acharya , J.S. Bevan. Department of Endocrinology, Aberdeen Royal Infirmary, Aberdeen, AB25 2ZN.INTRODUCTION: There have been few reports of the efficacy and safety of high dose androgen therapy in men with partial androgen insensitivity (PAI). We report on the responses of a p...

Background: Epidemiologocal data suggest an continuous increase in thyroid carcinoma diagnosis. Therefore, thyroidectomy rates are projected to increase world-wide in exponential scale. In Switzerland, the institutional number of thyroidectomies varies, however there is no data yet on the association between institutional thyroidectomy volume and clinical outcome.Methods: Cross-sectional analysis of adult inpatients in Swiss hospitals using a nation-wide...

Background: Incidence of thyroidectomies and awareness to postoperative quality measures have both increased in the last decade. Gender-specific indications and variations in clinical outcomes of patients undergoing thyroidectomy in Switzerland are of interest.Methods: We cross-sectionally compared administrative nationwide patient-level data for length of hospital stay (LOS), intensive care unit (ICU) admission, 30-day readmissions rates, and other qual...

Background: Neither dosage nor duration of systemic glucocorticoid therapy are reliable indicators of subsequent adrenal insufficiency. The dexamethasone suppression test is a measure of feedback sensitivity of the hypothalamic–pituitary–adrenal axis to cortisol. We hypothesized that this test predicts the later development of an adrenal insufficiency after a 14 days’ course of oral prednisone in healthy volunteers.Methods: We analyzed dat...

Aims/hypothesis: Adiponectin is an adipocyte-derived secretory factor that is highly specifically expressed in adipocytes. It exerts effects on energy homeostasis via peripheral and central mechanisms. However, it is not clear whether adiponectin is crossing the blood brain barrier in humans. In serum, adiponectin circulates in several different complexes, each of which has distinct functions. Here, we wanted to test whether adiponectin can be found in human cerebrospinal flui...

Background: Significant changes in calcium metabolism occur during normal pregnancy to meet the needs of the growing fetus. These include a rise in 1,25-dihydroxyvitamin D (1,25-(OH)D2 and consequent suppression of parathyroid hormone (PTH). In spite of this, maternal hypercalcaemia is very uncommon and should prompt further investigation.Clinical case: A 24-year-old primigravida woman was referred for assessment of maternal hypercalcaemia. Sh...

Measurement of cortisol is used in the differential diagnosis of Addisons’ disease (deficiency), Cushing’s disease (excess), hypopituitarism, adrenal hyperplasia and carcinoma. Cortisol is routinely measured by immunoassay, which has wide inter-assay variability with manufacturer dependent bias. Despite this, universal cut-offs are used as criteria for interpretation of dynamic function tests of the pituitary adrenal axis.Using a fully validate...

Introduction: X-linked hypo-phosphataemic rickets is characterized by hypophosphataemia, vitamin D deficiency, poor bone and dental mineralization. Mutations occur within the PHEX gene. Currently 329 mutations have been sequenced1. We report a novel PHEX mutation in a female with hypophosphataemic rickets.Case report: A 12-year-old girl presented with, genu varum, short stature and a previous dental abscess. Investigatons showed hypophosphatae...

Introduction: Continuous subcutaneous insulin infusion (CSII) or ‘pump’, therapy is used for intensification of insulin therapy. NICE guideline 2008 recommends CSII as an option for adults / children 12 years or older with insulin dependent diabetes mellitus (IDDM), when multiple daily injection (MDI) insulin therapy results in disabling hypoglycaemia/fails to reduce HbA1c levels below 8.5%, and for children below 12 years whenever MDI is impractical or inappropriate...