Searchable abstracts of presentations at key conferences in endocrinology

ea0081yi12 | Young Investigator Awards | ECE2022

Role of the transcription factor HHEX in inner adrenal cortex homeostasis and response to progesterone signaling

Dumontet Typhanie , Basham Kaitlin , Lerario Antonio , Bothou Christina , Brixius Bjoern , Turcu Adina F , Beuschlein Felix , Hammer Gary D

The adrenal glands serve as central organs of the endocrine system by producing steroid hormone essential for organismal homeostasis. Mechanisms ensuring proper adrenal homeostasis and function are therefore crucial for maintaining human life. ACTH, released by the pituitary corticotrope, is required for the differentiation of the inner part of the adrenal cortex (the zona fasciculata) and the resultant stimulation of cortisol production. Perturbation of ACTH signaling can lea...

ea0099oc3.4 | Oral Communications 3: Adrenal and Cardiovascular Endocrinology | Part I | ECE2024

HHEX is required for maintaining circulating glucocorticoid levels through expression of steroid transporter ABCB1 and regulation of lipid droplet homeostasis in the adrenal cortex

Dumontet Typhanie , Basham Katie , Foster Micah , Heard Kyle , Lapensee Christopher , Bothou Christina , Beuschlein Felix , Rainey William , Turcu Adina F. , Lerario Antonio , Hammer Gary

The adrenal cortex synthesizes glucocorticoids that are essential for metabolic homeostasis and modulation of immune responsiveness. Glucocorticoid-producing cells, located in the zona fasciculata (zF), constitute the critical effector of the HPA axis that serves to mediate the mammalian stress response. Dysregulation of glucocorticoid function results in significant morbidity with complete deficiency being incompatible with life. While the zF is composed of heterogenous cell ...

ea0099p191 | Late-Breaking | ECE2024

Activating somatic ESR1 mutation in an aggressive prolactinoma

Silva Ticiana , Buelvas Mebarak Jacobo , C. Magnotto John , A. Stamatiades George , Kuang Yanan , Paweletz Cloud , R. Laws Edward , Stephanie Carroll Rona , Jeselsohn Rinath , Mohan Dipika , Marcondes Lerario Antonio , Truong Minh-Tam , Linda Bi Wenya , A. Reardon David , M. Meredith David , Kaiser Ursula , Paula Abreu Ana

Introduction: Prolactinomas are benign tumors usually well controlled with dopamine agonists; few progress on medical therapy through unclear molecular mechanisms. Although the SF3B1 mutation has been recently associated with aggressive prolactinomas, in most cases, no genetic mutations have been reported. We aimed to identify somatic genetic alterations associated with prolactinomas using a gene panel.Method and Results: Oncopanel, a massively ...