Endocrine Abstracts

Turner syndrome (TS) affects over 15,000 females in the UK and is defined by the loss of X chromosome material. In the setting of an adult clinic we can observe adverse outcomes and determine their risk factors. For instance women with TS have an excess risk of hypertension, diabetes, fatty liver and osteoporosis. The Turner Syndrome Life Course Project at UCLH has collected data from over 750 women with TS over 20 years. Here we report the influence of weight on these outcome...

Introduction: Diabetes Mellitus (DM) is 2–4 times more common in Turner Syndrome (TS) than karyotype normal females. Diagnosis of DM in TS is usually based on age of presentation and insulin dependency without regard for DM- autoimmunity. Previous research has identified DM associations with the isochromosome and ring chromosome. However, only small numbers of diabetics have been included in reports so far. Here we present preliminary data on DM characterisation in TS.</p...

Endogenous glucocorticoids are secreted in hourly pulses, establishing a characteristic ultradian rhythm. Accordingly, the glucocorticoid receptor (GR) is activated in distinct pulses, causing target-gene pulsing. In contrast, constant glucocorticoid treatment causes aberrant target-gene overexpression in cell culture models, however this has not yet been described in vivo. Therefore, here we assess the effect of altering the glucocorticoid ultradian pattern on transc...

Aim: To develop a cost effective and individualised service model for GH replacement therapy based on a joint decision making process with patients and commissioners.Background: At University College London Hospital (UCLH), we have a caseload of about 300 adult patients treated with GH. Our in house structured GH treatment proforma is used at the patient’s initial consultation for joint decision making on prescribing the most suitable GH, e.g. non-r...

Renal functions in a mouse model of Cushing’s Syndrome have been characterised by analysing RNA expression complemented by immunohistochemistry studies. A microarray of kidneys from mice infused with ACTH for two weeks identified gene transcripts that were up-regulated (70) and down-regulated (49) more than two-fold. Four separate clusters of closely correlated genes (r> 0.97; P< 0.001) were investigated in more detail. One down-regulated cluster included histocom...

AT-rich interacting domain (ARID) subunits can interact with the glucocorticoid receptor (GR) and therefore may be essential for gene transcription dependent on receptor signalling. Glucocorticoids are steroid hormones important for regulating a variety of physiological processes through the binding and activation of GR. GR associates with numerous co-regulators, such as chromatin remodelling factors, to mediate gene induction or repression. One chromatin remodelling complex w...

Background: The Lin28 family of proteins are emerging as important regulators of microRNAs in endocrine systems. Lin28a influences primordial germ cell development in mice, and overexpression of Lin28a in transgenic mice has recently been shown to influence body size, timing of puberty and litter size. The related protein LIN28B is associated with age at menarche and stature in several independent genome-wide association studies in humans.A...

Objectives: To assess bone mineral density (BMD) and body composition in adults with congenital adrenal hyperplasia (CAH).Setting: Endocrine clinics in seventeen centres throughout the UK participating in CaHASE, a Society for Endocrinology project.Study design and subjects: Cross-sectional survey of 203 adults with CAH (65 men, 138 women: median age 33 (range 18–70) years). Hundred and sixty six patients were classified as cl...

Background: Metformin is an established treatment of polycystic ovarian syndrome (PCOS) but patient-reported outcomes with respect to its effects and tolerability have not been widely reported. About 68 patients with PCOS treated with metformin in our clinic were surveyed by questionnaire.Results: a. Demographics: 42/68 patients were currently, and 26 previously treated with metformin for PCOS. Median age and BMI was 31 years (range 16–49), and ...

Dissection or rupture of the aorta accounts for death in 2-8% of women with Turner Syndrome (TS), and dilatation of the aortic root, has been reported as a predisposing factor. We compared measures of arterial structure, stiffness and endothelial function to investigate whether women with TS have a fundamental arterial wall defect which extends beyond the arch of the aorta. Local Ethics Committee approval was obtained.Age-matched women with TS (n=93), 46...