Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) is characterised by impaired gluco and mineralocorticoid and excessive adrenal androgen secretion from the adrenal cortex. More than 90% of cases of CAH are caused by defects in the steroid 21-hydroxylase (CYP21) gene. We describe the association between salt-losing 21-hydroxylase deficiency and growth hormone deficiency.Patients and Methods: We reviewed 4 patients with salt-losing CAH (CYP21), who pres...

Cessation of hGH in GH deficient children generally occurs when final adult height has been obtained.Commonly, transition to adult clinics occurs in late teenage years,a time when patients are studying for A-levels, entering higher education or full time employment. It had been noticed that some patients were not doing as well in these areas as had been expected but that when adult hGH was commenced their performance improved.The aim of this audit was to try and investigate wh...

IntroductionCardiovascular complications are the main cause of increased mortality in Turner Syndrome (TS). We have previously described a high prevalence of occult aortic dysmorphology in women with TS. The aim of this study was to introduce a classification system for the variety of appearances seen by magnetic resonance imaging (MRI).Method98 women (median age 29.0, range 18.1-64.2 years) underwent MRI scanning of the aorta. MRI appearances were correlated with ...

The excess androgen levels in women with PCOS may be ovarian and/or adrenal in origin and one proposed contributing mechanism is an alteration in cortisol metabolism. Increased peripheral cortisol metabolism, either by enhanced inactivation of cortisol by 5alpha-reductase or impaired reactivation of cortisol by 11b-hydroxysteroid dehydrogenase (11bHSD type 1), results in decreased negative feedback suppression of ACTH secretion maintaining normal plasma cortisol concentrations...

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...

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 ...

In a double-blind study, 106 patients (44 males, 62 females, age 20-64 years) with Addison's disease, were randomised to receive either 50mg of micronised DHEA or placebo orally daily for 12 months. Psychological and biochemical parameters were measured at baseline, 3 to 6 month intervals and post-washout; bone mineral density (BMD) and body composition were assessed by DEXA at baseline and 12 months.DHEAS levels rose significantly and were maintained th...

Background: Turner syndrome (TS) comprises a group of sex chromosome anomalies affecting approximately 15,000 in the UK. TS affects every organ system in the body through haploinsufficiency of genes that are normally expressed by both X chromosomes. Common features include short stature, congenital heart diease and gonadal dysgenesis requiring long-term oestrogen replacement but the adult phenotype extends to excess risk of diabetes, hypertension and hepatosteatosis. UCLH has ...

Women with Turners Syndrome (TS) have been shown to have reduced bone mineral density (BMD) but there is uncertainty about how this relates to fracture risk. The little data that does exist is conflicting, with one case series finding no difference compared to controls and one survey suggesting an increased risk of fracture particularly of the forearm. Proposed mechanisms for reduced BMD include short stature, oestrogen deficiency and bone dysplasia. In addition, fracture risk...

ObjectivePrevious studies have documented poor fertility results in women with hypopituitarism (HP) both in terms of pregnancy rates and outcomes. We aimed to assess ovulation induction (OI) and pregnancy outcomes in women with HP compared to women with hypogonadotrophic hypogonadism (HH) treated at University College London Hospitals.DesignA retrospective study.Patients<p class="ab...