Searchable abstracts of presentations at key conferences in endocrinology

ea0099ep91 | Adrenal and Cardiovascular Endocrinology | ECE2024

Identification of lipid profiles and fatty acid abundances associated with histopathology and subtypes of primary aldosteronism

Yang Yuhong , Liu Yuqing , Zhou Haifeng , Gao Maoting , Yan Yutong , Ma Guodong , Wang Min , Bao Meiling , Yang Tao , Sun Min

Background: Primary aldosteronism (PA) is mainly caused by unilateral (unilateral PA) or bilateral aldosterone-producing lesions of adrenals (bilateral PA). Accumulating findings suggest distinct metabolic profiles between patients with unilateral and bilateral PA. However, the link between the metabolic features and histopathologic findings of adrenals from patients with PA remains largely unknown.Objective: To characterize metabolic profiles with a foc...

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...