Searchable abstracts of presentations at key conferences in endocrinology

ea0094oc1.5 | Bone and Calcium | SFEBES2023

CTNNB1 pathogenic variants can cause an autosomal dominant osteoporosis-pseudoglioma-like syndrome: a new form of osteogenesis imperfecta?

Lazarus Syndia , Nicolas Boyer Pierre , Duncan Emma

A 27-year-old woman with familial exudative vitreoretinopathy (FEVR) experienced multiple childhood fractures, including wrist (aged 7y), hip (aged 10y) and numerous vertebrae. She had low bone mineral density (BMD) (Z scores < -2.5 at multiple sites aged 9; persistently low BMD as an adult) and was short (height below 1st centile). Other features included an unusual facies and mild intellectual impairment. Her mother also had FEVR, dental hypoplasia, mild intellectual imp...

ea0025s3.4 | Fat endocrinology: disorders of adipose tissue and lipids important to the endocrinologist | SFEBES2011

What you need to know about the genetics of hyperlipidaemia

Shoulders Carol , Hutchison Claire , Duncan Emma , Sivapackianathan Rasheeta

This presentation will consider the ways that modern genetics and lipidomics are beginning to increase our understanding of specific lipid disorders that bear on human disease, ranging from life-threatening conditions of infancy through severe coronary heart disease of young adulthood, to indolent disorders of middle- and old-age. The case will be made for replacing the traditional, but now 45-year-old, Fredrickson and Lees essentially phenotypic classification of hyperlipidae...

ea00100p34 | Poster Presentations | SFEEU2024

A rare case of hypoxia and metastatic multifocal paraganglioma

Sathyanarayan Sheela , ElGhazoini Safa , White Gemma , Izatt Louise , Carroll Paul , Duncan Emma

A 48-year-old woman with complex cyanotic congenital heart disease due to dextrocardia was found to have a urachal remnant during routine ultrasound as part of her cardiac monitoring. Unexpected, excision via partial cystectomy without any hypertensive crisis identified 12 mm bladder paraganglioma [PGL], with local metastases to bladder (distinct from primary lesion) and lymph nodes (pT2b N1). Post operatively (following histopathology diagnosis), biochemistry demonstrated mar...

ea0090p167 | Pituitary and Neuroendocrinology | ECE2023

Somatostatin analogue treatment is associated with lack of progression of pNETs <20mm in size in patients with MEN1

Frizelle Isolda , Velusamy Anand , McGowan Barbara , Breen Louise , Duncan Emma , Izatt Louise , Christodoulou Dimitra , Joshi Mamta , Paul Carroll

Introduction: Pancreatic neuroendocrine tumours (pNETs) are the main cause of mortality in patients with multiple endocrine neoplasia type 1 (MEN1). The CLARINET study demonstrated that somatostatin analogue treatment improved progression free survival in patients with enteropancreatic NETs but little is known about the role of SSA in preventing progression of pNETs in MEN1 (1). Many centres have started using SSA treatment in MEN1 patients with enlarging pNETs or tumours &#62...

ea0050oc4.1 | Adrenal and Steroids | SFEBES2017

Predicted benign and silent SNPs in CYP11A1 cause primary adrenal insufficiency through missplicing

Maharaj Avinaash , Buonocore Federica , Meimaridou Eirini , Ruiz-Babot Gerard , Guasti Leonardo , Peng Hwei-Ming , Capper Cameron , Prasad Rathi , Crowne Elizabeth , Cheetham Timothy , Brain Caroline , Suntharalingham Jenifer , Striglioni Niccolo , Yuksel Bilgin , Gurbuz Fatih , Auchus Richard , Spoudeas Helen , Guran Tulay , Johnson Stephanie , Fowler Dallas , Duncan Emma , Conwell Louise , Drui Delphine , Cariou Bertrand , Siguero Juan Pedro Lopez , Harris Mark , Donaldson Malcolm , Achermann John , Metherell Lou

Background: CYP11A1 encodes the P450 side chain cleavage enzyme (P450scc) responsible for initiating steroidogenesis and classically gives rise to disordered sex development plus adrenal and gonadal insufficiency. The rs6161 variant in exon 5 of CYP11A1 (c.940G>A; p.E314K) has previously been considered as ‘benign’. When next generation sequencing was performed in patients with primary adrenal insufficiency of unknown etiology the rs6161 variant was foun...

ea0050oc4.1 | Adrenal and Steroids | SFEBES2017

Predicted benign and silent SNPs in CYP11A1 cause primary adrenal insufficiency through missplicing

Maharaj Avinaash , Buonocore Federica , Meimaridou Eirini , Ruiz-Babot Gerard , Guasti Leonardo , Peng Hwei-Ming , Capper Cameron , Prasad Rathi , Crowne Elizabeth , Cheetham Timothy , Brain Caroline , Suntharalingham Jenifer , Striglioni Niccolo , Yuksel Bilgin , Gurbuz Fatih , Auchus Richard , Spoudeas Helen , Guran Tulay , Johnson Stephanie , Fowler Dallas , Duncan Emma , Conwell Louise , Drui Delphine , Cariou Bertrand , Siguero Juan Pedro Lopez , Harris Mark , Donaldson Malcolm , Achermann John , Metherell Lou

Background: CYP11A1 encodes the P450 side chain cleavage enzyme (P450scc) responsible for initiating steroidogenesis and classically gives rise to disordered sex development plus adrenal and gonadal insufficiency. The rs6161 variant in exon 5 of CYP11A1 (c.940G>A; p.E314K) has previously been considered as ‘benign’. When next generation sequencing was performed in patients with primary adrenal insufficiency of unknown etiology the rs6161 variant was foun...