Searchable abstracts of presentations at key conferences in endocrinology

ea0021p144 | Diabetes and metabolism | SFEBES2009

Protective effects of annexin A1 in experimental endotoxaemia are mediated by an FPR-dependent mechanism

Hughes Ellen L , Buckingham Julia C , Gavins Felicity N E

Sepsis is a major clinical problem, caused by a hyperactive immune response following infection. Worldwide prevalence is estimated at 1.8 m/year and mortality at around 40%1. Protective effects of the endogenous anti-inflammatory protein annexin A1 have previously been shown in many models, including sepsis2. We therefore chose to investigate the role of the annexin A1 peptide mimetic, Ac2–26, in murine experimental endotoxaemia, and to ascertain whe...

ea0025cm4.1 | Management of disorders of sex development (DSD) across the lifespan | SFEBES2011

The clinical spectrum of DSD

Hughes Ieuan

The variability in the manifestation of DSD covers a spectrum ranging from normal external female and male phenotypes to ambiguous genitalia. The latter scenario represents the sino qua non of DSD and poses a fundamental problem at birth – the inability to sex assign instantaneously. The typical newborn phenotype is represented by the ambiguity of a small penis/enlarged clitoris, labioscrotal folds, a single perineal orifice and gonads which may, or may not, be pal...

ea0021s7.2 | Dilemmas in managing gender identity problems in adolescence | SFEBES2009

Dilemmas in managing gender identity problems in adolescence: a medical overview

Hughes Iuean

The Endocrine Society has published guidelines on the endocrine treatment of transsexual persons (J Clin Endocrinol Metab 2009 94 3132–54). For adolescents with gender identity disorder (GID), the guideline recommends that suppression of pubertal hormones start when girls and boys exhibit physical changes of puberty (confirmed by pubertal levels of estradiol and testosterone, respectively), but no earlier than Tanner stages 2–3. In practice, this...

ea0015s27 | Androgen receptors - physiology and disease | SFEBES2008

Androgen receptors in development: biochemical and clinical correlates

Hughes I A

The androgen receptor (AR) is the conduit for androgen-induced fetal male sex differentiation, the acquisition of secondary sexual characteristics at male puberty and subsequently, the onset of spermatogenesis. The AR is expressed ubiquitously in early fetal development to permit male sex differentiation to occur: stabilisation of the Wolffian ducts to form the vas deferens, epididymis and seminal vesicles and morphogenesis of the genital tubercle and folds to form the penis, ...

ea0008s15 | Hormones in natural products | SFE2004

Gender dysfunction in newborn males

Hughes I

Gender or sex assignment is instantaneous at birth in the vast majority of infants. Rarely, the external genitalia are sufficiently ambiguous to render an assignment impossible and genetic, hormonal and radiological investigations are necessary before a decision can be reached about the sex of rearing. The commonest cause of such ambiguous genitalia is adrenal 21-hydroxylase deficiency (congenital adrenal hyperplasia) leading to virilisation of an affected female newborn. The ...

ea0007s44 | Congenital adrenal hyperplasia | BES2004

Congenital adrenal hyperplasia

Hughes I

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting adrenal steroid biosynthesis.For the paediatric endocrinologist,the presentation is at birth manifest as ambiguous genitalia in girls and as salt loss in both sexes.The affected male has normal external genitalia and the salt loss is delayed until the second week of life.Hence,a life threatening salt-losing crisis may occur accounting for the sex imbalance of this disorder in the past.Several cou...

ea0077p65 | Metabolism, Obesity and Diabetes | SFEBES2021

Meeting the Challenge of Bariatric Surgery during the first wave of Covid -19 in a patient with a BMI >100kg/m2

Larsen Niels , Hughes David

Introduction: The super-super-obese category of patient (BMI >60) tend to respond poorly to conservative weight interventions. Bariatric surgery is therefore considered the best form of intervention. Only a few UK centres have expertise to manage patients with a BMI >100kg/m2 and careful counselling is essential as those standing to benefit the most from these procedures (through reduced risk of cardiovascular disease, diabetes and malignancy) also face the ...

ea0049ep97 | Adrenal medulla | ECE2017

Retrospective audit at a UK teaching hospital of phaeochromocytomas and paragangliomas against the 2016 guidelines

Ibraheem Nawal , Hughes David

Introduction: In this audit we explored the treatment and follow up of pre-2016 cases against the 2016 European Society of Endocrinology (ESE) guidelines on PPGL follow-up.Results: Demographics of the patients revealed 50% were male with median age (45±5), 82% of patients underwent surgery of which 73% were diagnosed with adrenal phaeochromocytomas & 27% with paragangliomas. Only 64% of surgical cases were followed up in clinic in the last year....

ea0070ep93 | Bone and Calcium | ECE2020

Fibrodysplasia ossificans progressiva: Cobbling together a treatment plan for a patient with osteomyelitis

Sathyanarayanan Abilash , Hughes David

Introduction: We describe a patient with Fibrodysplasia ossificans progressiva (FOP) who developed an osteomyelitic neuropathic toe ulcer. This was treated effectively with conservative measures, but highlighted the need for multiprofessional working in managing patients with FOP.Case: The patient’s toe ulcer occurred in 2017 and was initially managed by community podiatry and orthopaedics. The patient received multiple courses of antibiotics for r...