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...

Background and aims: Polycystic Ovary syndrome (PCOS) is a common, lifelong condition. Its associated symptoms have been linked with psychological consequences, but less attention has been given to the daily implications of living with the condition. We aimed to explore women’s experiences of living with PCOS, including a specific focus on practical implications and methods of providing support such as structured group-based patient education.Method...

Background: Congenital leptin deficiency (CLD) is characterized by severe early-onset obesity due to hyperphagia and impaired satiety. The impact of obesity in obstructive sleep apnoea hypopnoea syndrome (OSAHS) was originally reported as mechanical, but recent data suggest that adipokines may influence central ventilation. We highlight that treatment with recombinant human leptin (RHL) in CLD with OSAHS improves ventilation before weight loss.Case prese...

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...

Craniopharyngioma is a rare benign pituitary tumour that occurs in children and adults. Recurrence rates are high (up to 90%) but factors underpinning this are unclear, particularly in cases of childhood onset. We aimed to investigate factors that may influence subsequent recurrence rates in childhood onset craniopharyngiomas in patients attending our centre. A retrospective study of patients followed up at the Oxford Late Effects of Childhood Cancer service was conducted. Pat...

A 31-year-old female was referred to Endocrinology clinic for review of her hypergonadotrophic-hypogonadism. She had cleft palate operation at age 3. At age 15y lack of pubertal signs prompted investigations showing XX genotype, FSH:120 IU/L, LH:32 IU/L and low E2. She was started on cyclo-progynova (elsewhere). She has tall stature, span 2.5 cm longer than height, bifid uvula, arachnodactyly with positive ‘wrist sign’, mild scoliosis, pectus excavatum and reduced mu...

The Competency Framework for Adult Endocrine Nursing was launched at the Society for Endocrinology (SfE) BES conference in March 2013 and was made available to Endocrine nurses and Endocrine centres in the UK. It was also made accessible via the SfE website. Questionnaires were sent out 6 months later to audit its use.Results: 80.4% of nurse respondents had heard of the document and 69.6% had read it. 100% of those who had read it found it easy to use an...

Many cases of hypertension are associated with inappropriately high levels of aldosterone secretion and it has been proposed that microRNAs play a role in this dysregulation. Previously, we showed that microRNAs expressed within the adrenal cortex significantly repress aldosterone production. Furthermore, stimulation of aldosterone secretion by three different means in the H295R cell line – the most commonly-used in vitro model of the human adrenal cortex – ...

Thyroid hormones increase foetal and adult metabolic rates, and, in adult tissues, increase mitochondrial biogenesis. Foetal tri-iodothyronine (T3) concentrations rise towards term in preparation for the increased postnatal energy demands but whether they affect mitochondrial development remains unknown. This study examined mitochondrial development in skeletal muscle of thyroid hormone deficient sheep foetuses near term.At 105–110 days (...

Inappropriately high secretion of aldosterone can lead to hypertension and its various cardiovascular consequences. We previously showed that microRNA (miRNA) plays a significant role in the regulation of aldosterone biosynthesis. In this study we measured miRNA levels in H295R cells, the most commonly-used human adrenocortical cell line, and investigated how these change in response to the stimulation of aldosterone biosynthesis.H295R cells (n=...