Searchable abstracts of presentations at key conferences in endocrinology

ea0028p333 | Steroids | SFEBES2012

Recovery of the HPA axis after Prolonged Exogenous Steroids - Experience with Three Cases

Neary Nicola , Collins Michael , Abraham Smita , Nieman Lynnette

Exogenous glucocorticoids lead to suppression of the HPA axis via negative feedback on the hypothalamus and pituitary and may be associated with increased morbidity and mortality (Wei L. Ann Intern Med. 2004). Many patients whose steroids are no longer required for their underlying disease find withdrawal challenging. Presentations: Case 1: 68-year old male treated with steroids for hepatic graft versus host disease following a stem cell transplant for EBV-lymphoproliferative ...

ea0090rc8.4 | Rapid Communications 8: Calcium and Bone | ECE2023

Encaleret (CLTX-305) normalized mineral homeostasis parameters in patients with autosomal dominant hypocalcemia type 1: Results over 12 months in a phase 2 study (NCT04581629)

Collins Michael , Hartley Iris , Roszko Kelly , Nemeth Edward , Pozo Karen , Boykin Winsome , Mathew Arun , Roberts Mary Scott , Adler Scott

Autosomal dominant hypocalcemia type 1 (ADH1), caused by gain-of-function calcium-sensing receptor gene (CASR) variants, is characterized by low parathyroid hormone (PTH) levels, hypocalcemia, hypercalciuria, hyperphosphatemia and hypomagnesemia. Conventional therapy (calcium and active vitamin D) worsens hypercalciuria, which may result in renal complications. Calcilytics, such as encaleret, are negative allosteric modulators of the calcium-sensing receptor (CaSR). T...

ea0081rc8.2 | Rapid Communications 8: Calcium and Bone | ECE2022

Temporal effects of encaleret (CLTX-305) on mineral physiology in autosomal dominant hypocalcemia type 1 (ADH1): results from a phase 2B, open-label, dose-ranging study [NCT04581629]

Gafni Rachel , Hartley Iris , Roszko Kelly , Pozo Karen , Nemeth Edward , Sani-Grosso Ramei , Mathew Arun , Sridhar Ananth , Scott Roberts Mary , Fox Jonathan , Collins Michael

Autosomal dominant hypocalcemia type 1 (ADH1), caused by gain-of-function variants in the calcium-sensing receptor (CaSR, gene: CASR) and is characterized by hypocalcemia, hyperphosphatemia, low parathyroid hormone (PTH), and hypercalciuria. Calcilytics (negative allosteric modulators of the CaSR) decrease the sensitivity of activated receptors to extracellular calcium and normalize blood and urine abnormalities in ADH1 rodent models. Encaleret is an oral calcilytic u...

ea0037oc12.5 | Pituitary – Clinical | ECE2015

The clinical characteristics of X-linked acro-gigantism syndrome

Daly Adrian , Trivellin Giampaolo , Rostomyan Liliya , Yuan Bo , Choong Catherine , Young Jacques , Mantovani Giovanna , Naves Luciana , Lysy Philippe , Cheetham Tim , Shah Nalini , Metzger Daniel , Zatelli Maria Chiara , Strebkova Natalia , Mazerkina Nadia , Collins Michael , Lodish Maya Beth , Lupski James , Stratakis Constantine , Beckers Albert

X-linked acro-gigantism (X-LAG) is a rare novel genomic syndrome of pituitary gigantism that has a typical onset within the first year of life in children of normal or even low birth weight. X-LAG patients have a microduplications on chromosome Xq26.3 that includes a gene GPR101, which is highly upregulated in pituitary tumor tissue of affected patients. We performed a study of all 18 known X-LAG syndrome patients currently in the NICHD-University of Liège databa...