Searchable abstracts of presentations at key conferences in endocrinology

ea0070aep544 | General Endocrinology | ECE2020

Expanding the clinical and genetic spectrum of 17α-Hydroxylase/17,20-Lyase deficiency: 7 cases and 5 novel mutations in the CYP17A1 gene

Sun Min , Müller Jonathan , Gilligan Lorna , Taylor Angela , Shaheen Fozia , Cheetham Tim , Denvir Louise , Gleeson Helena , Shenoy Savitha , Szarras-Czapnik Maria , Rahman Mushtaqur , Taylor Norman , T’sjoen Guy , Shackleton Cedric , Arlt Wiebke , Idkowiak Jan

Context: Cytochrome P450 (CYP) 17A1 is located at major branch points of steroidogenesis exerting two distinct catalytic activities: 17α-hydroxylase generates glucocorticoid precursors and 17,20-lyase generates the principal sex steroid precursor dehydroepiandrosterone (DHEA). CYP17A1 deficiency (17OHD) is a rare form of congenital adrenal hyperplasia. In severe 17OHD, affected individuals typically present with both glucocorticoid and sex steroid deficiency and mineraloc...

ea0056p140 | Endocrine tumours and neoplasia | ECE2018

Achievement of therapeutic mitotane concentrations in management of advanced adrenocortical cancer: a single centre experience in 47 patients

Bakhit Mohamed , Whitelaw Benjamin C , Gilbert Jackie , Coskeran Patsy , Diaz-Cano Salvador , Taylor David R , Taylor Norman T , Ghatore Lea , Lewis Dylan , Vivian Gillian , Sarker Debashis , Ross Paul , Davis Laura May , Clough Jennifer , Hubbard Johnathan G , Galata Gabriele , Prachalias Andreas , Schulte Klaus-Martin , Aylwin Simon J B

Introduction: Multi-modal therapy for adrenocortical carcinoma (ACC) includes surgery, therapy with the adrenolytic agent mitotane and systemic chemotherapy. Achievement of therapeutic mitotane concentrations (≥14 mg/l) has been related to improved outcomes.Aim: To evaluate the effectiveness of a defined* high dose protocol mitotane therapy in patients with advanced ACC (stages III and IV).Methods: Review of patients presenti...