Searchable abstracts of presentations at key conferences in endocrinology

ea0033p48 | (1) | BSPED2013

Development of a next generation sequencing panel for disorders of sex development (DSDs)

Hughes Lowri , Cole Trevor , Krone Nils , Allen Stephanie , Fews Graham , MacDonald Fiona

Disorders of sex development (DSDs) refer to a range of congenital disorders where the chromosomal, gonadal or anatomical sex is atypical. Patients typically present in the newborn period where ambiguous genitalia often prevents immediate gender assignment or during the adolescent period where atypical sexual development becomes apparent. Genetic testing is key in establishing the diagnosis allowing for personalised management of these patients, and can significantly reduce th...

ea0033oc2.6 | Oral Communications 2 | BSPED2013

Review of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing

Dias Renuka , Nightingale Peter , Hardy Carol , Kirby Gail , Tee Louise , Price Sue , MacDonald Fiona , Barrett Timothy , Maher Eamonn

Background: About a half of all children with a clinical diagnosis of Silver-Russell syndrome (SRS) have a detectable molecular genetic abnormality (maternal uniparental disomy of chromosome 7 or hypomethylation of H19). The selection of children for molecular genetic testing can be difficult for non-specialists because of the broad phenotypic spectrum of SRS and the tendency of the facial features to mitigate during late childhood. Several clinical scoring systems for SRS hav...

ea0028p306 | Steroids | SFEBES2012

Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency - analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort

Krone Nils , Rose Ian , Willis Debbie , Wild Sarah , Hodson James , Doherty Emma , Hahner Stefanie , Parajes Silvia , Stimson Roland , Han Thang , Carroll Paul , Conway Gerard , Walker Brian , Macdonald Fiona , Ross Richard , Arlt Wiebke , CaHASE The UK CAH Adult Study Executive

In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency a genotype-phenotype correlation exists for paediatric cohorts, helping to predict the severity of disease expression. Data on the correlation in adults is lacking. Here we report the genetic analysis of the UK CaHASE cohort, comprising CAH adults seen at 17 endocrine tertiary care centres. CYP21A2 mutation analysis was performed in 153 patients (median age 35 (range 18–69) yrs; 103 f, 50 m) by multi...

ea0015oc1 | Young Endocrinologist prize session | SFEBES2008

Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B gene mutation carriers

Srirangalingam Umasuthan , Walker Lisa , Khoo Bernard , MacDonald Fiona , Gardner Daphne , Wilkin Terence J , Skelly Robert H , George Emad , Spooner David , Monson John P , Grossman Ashley B , Akker Scott A , Pollard Patrick J , Plowman Nick , Avril Norbert , Berney Dan M , Burrin Jacky M , Reznek Rodney , Ajith Kumar VK , Maher Eamonn R , Chew Shern L

Background: Phaeochromocytomas and paragangliomas are familial in up to 25% of cases and can result from succinate dehydrogenase (SDH) gene mutations.Objective: To describe the clinical manifestations of subjects with SDH-B gene mutations.Design: Retrospective case series.Patients: Thirty-two subjects with SDH-B gene mutations followed-up between 1975 and 2007. Mean follow-up of 5.8 years (S.D....