Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096fc6.3 | Adrenals and HPA Axis 1 | IMPE2023

Disruption of Pediatric Cushing Syndrome Evaluations by Heterophile Antibodies interfering with an Adrenocorticotropic Hormone (ACTH) Assay

Jumani Sanjay , Yanovski Jack , Nieman Lynnette , Cole Justine , Harb Roa , Gun Hasan , Lightbourne Marissa

Contemporary ACTH assays have variable susceptibility to interference by endogenous antibodies, particularly heterophile antibodies, leading potentially to unnecessary investigations1-6. Often, determining the cause of the spurious ACTH results is impossible beyond identifying the presence of interference of heterophile antibodies6. Here we describe two cases of Cushing Syndrome due to Primary Pigmented Nodular Adrenocortical Disease (PPNAD) whose evaluat...

impe0096fc5.1 | Fat, Metabolism and Obesity | IMPE2023

Evaluation of Clinical Benefit Following Setmelanotide Treatment in Patients With Bardet-Biedl Syndrome

Haqq Andrea M. , K. Chung Wendy , Dollfus Hélène , Iqbal Anoop , Á. Martos-Moreno Gabriel , Poitou Christine , A. Yanovski Jack , Malhotra Sonali , Miller Paul , Yuan Guojun , Forsythe Elizabeth , Clément Karine , Argente Jesús

Bardet-Biedl syndrome (BBS) is a rare disease associated with signaling defects in the melanocortin-4 receptor (MC4R) pathway that lead to hyperphagia, severe obesity, and, consequently, reduced quality of life (QOL). We investigated the impact of setmelanotide, an MC4R agonist, on weight, body composition, hunger, and QOL in a Phase 3 trial of patients with BBS to characterize clinically meaningful and patient-relevant benefit. Patients aged ≥6 years with BBS and obesity w...