Searchable abstracts of presentations at key conferences in endocrinology

ea0021p204 | Endocrine tumours and neoplasia | SFEBES2009

Temozolomide-induced regression of hepatic metastases in a pituitary corticotroph carcinoma with low O6-methylguanine-DNA methyltransferase expression

Burton Hannah , Annamalai Anand K , Dean Andrew , Kovacs Kalman , Antoun Nagui , Kirollos Ramez W , Simpson Helen L , Jeffries Sarah J , Burnet Neil G , Gurnell Mark

Background: Pituitary carcinoma occurs in ~0.2% of resected pituitary tumours, and carries a poor prognosis (mean survival <4 years), with standard chemotherapeutic regimens showing limited efficacy. However, recent evidence suggests that temozolomide, an orally active alkylating agent used principally in the management of glioblastoma, may also be effective in controlling aggressive/invasive pituitary adenomas/carcinomas. Low levels of expression of the DNA-repair enzyme ...

ea0094p96 | Neuroendocrinology and Pituitary | SFEBES2023

A first report of pituitary Neuro-Endocrine-Tumour in a young patient with Coffin-Siris syndrome. Is there a link between the ARID1B c.6157dup gene and pituitary tumourigenesis?

Macfarlane James , Lin Nyan , Serban Laura , Sennik Devesh , Ping Jen Jian , Mes Steven , Dean Andrew , Koulouri Olympia , Donelly Neil , Mannion Richard , Gurnell Mark , Panteliou Eleftheria

A 19-year-old gentleman, with Coffin-Siris-Syndrome(CSS)(ARID1B:c.6157dup gene-mutation), was referred to our endocrinology clinic, with rapid weight-gain and recent onset of Type-2-Diabetes. He was of short stature, he had central-adiposity, facial plethora, proximal myopathy and gynaecomastia. Endocrine testing revealed ACTH:61ng/l, Cortisol:772nmol/l, Total-Testosterone:2.8nmol/l, FSH:6.3U/l, LH:2.2U/l, Prolactin:87mU/l, IGF-1:61ug/l, TSH:0.18mU/l, T4:10.3 pmol/l, HbA1C:84m...

ea0021oc3.5 | Young Endocrinologists prize session | SFEBES2009

A multisystem selenoprotein disorder with a thyroid signature

Schoenmakers Nadia , Schoenmakers Erik , Agostini Maura , Mitchell Catherine , Papp Laura , Rajanayagam Odelia , Padidela Raja , Doffinger Rainer , Luan Jian'an , Lu Jun , Campi Irene , Burton Hannah , Muntoni Francesco , O' Donovan Dominic , Dean Andrew , Warren Anne , Guicheney Pascale , Fitzgerald Rebecca , Coles Alasdair , Gaston Hill , Holmgren Arne , Cooke Marcus S , Halsall David , Wareham Nicholas , Beck-Peccoz Paolo , Ogunko Arthur , Dattani Mehul , Gurnell Mark , Chatterjee Krishna

Selenocysteine insertion sequence-binding protein 2 (SECISBP2) mediates translational incorporation of selenocysteine into 25 known human selenoproteins, including iodothyronine deiodinases. Two unrelated male subjects, aged 36 years (P1) and 3.6 years (P2), exhibited markedly elevated free thyroxine (fT4), normal/low free triiodothyronine (fT3), but normal thyrotropin (TSH) levels, indicating reduced T4 to T3 conversion:<table b...