Searchable abstracts of presentations at key conferences in endocrinology

ea0041s13.3 | Management of Cushing's syndrome | ECE2016

Rethinking familial adrenal Cushing’s

Lodish Maya

Primary adrenal Cushing syndrome is the result of cortisol hypersecretion mainly by adenomas and, rarely, by bilateral micronodular or macronodular adrenocortical hyperplasia. cAMP-dependent protein kinase A (PKA) signaling is the major activator of cortisol secretion in the adrenal cortex. Many adenomas and hyperplasias associated with primary hypercortisolism carry somatic or germline mutations of genes that constitute part of the cAMP–PKA pathway. We will discuss Cushi...

ea0049gp68 | Developmental & Protein Endocrinology | ECE2017

Assessment of reports of behaviour by patients and their parents in paediatric Cushing disease

Keil Margaret , Belyavskaya Elena , Lyssikatos Charalampos , Lodish Maya , Stratakis Constantine

Context: Prior studies of children with endogenous Cushing syndrome (CS) have identified cognitive decline despite reversal of brain atrophy after remission as well as residual impairment of quality of life measures. Although parental observations support personality changes with CS, significant psychopathology has not been described. We investigated the feasibility of using paediatric Patient-reported outcomes (PROMIS) using a computer interface to assess patient perception o...

ea0041gp30 | Adrenal (2) | ECE2016

Hair Cortisol Measurements in the Evaluation of Cushing’s Syndrome

Zilbermint Mihail , Hodes Aaron , Sinaii Ninet , Belyavskaya Elena , Lyssikatos Charalampos , Meyer Jerrold , Lodish Maya , Stratakis Constantine

Context: Hair cortisol has been recently studied to determine evidence of hypercortisolemia in humans. This test may be valuable in estimating cortisol levels, particularly in patients with cyclical Cushing’s syndrome (CS).Objective: To determine correlations with biochemical evidence of CS, and to compare hair cortisol measurements in patients with CS to normative data.Methods: Hair samples from 49 study subjects were collect...

ea0037ep1225 | Clinical Cases–Pituitary/Adrenal | ECE2015

Anaesthesia during petrosal sinus sampling and possible interference with ACTH levels

Keil Margaret , Lodish Maya , Lyssikatos Charalampos , Bhutani Jaikrit , Belyavskaya Elena , Stratakis Constantine

Background: General anaesthesia and surgical intervention in humans are known to affect the function of the hypothalamic–pituitary–adrenal axis (HPA). In the literature there are conflicting reports about the effect of propofol, a commonly used intravenous anaesthetic agent, on HPA function.Case reports: We report two males (11 and 12 years) with ACTH-dependent Cushing syndrome (CS) who underwent inferior petrosal sinus sampling (IPSS) with gen...

ea0049ep13 | Adrenal cortex (to include Cushing's) | ECE2017

Hair cortisol in patients with primary aldosteronism

Hodes Aaron , Lodish Maya , Tirosh Amit , Meyer Jerrold , Belyavskaya Elena , Lyssikatos Charalampos , Rosenberg Kendra , Demidowich Andrew , Swan Jeremy , Jonas Nichole , Stratakis Constantine , Zilbermint Mihail

Context: Primary aldosteronism (PA) is a common cause of secondary hypertension, and some PA adrenal tumors co-secrete glucocorticoids, causing subclinical or overt Cushing syndrome (CS). We recently reported correlations between hair cortisol concentration (HCC) and serum and urinary levels of cortisol in patients with CS.Objective: To determine correlations of segmental hair cortisol and biochemical markers of a referred cohort of patients for the eval...

ea0056oc10.3 | Cardiovascular aspects of endocrine diseases | ECE2018

ARMC5 variants and risk of hypertension in African Americans: Minority Health-GRID study

Zilbermint Mihail , Gaye Amadou , Berthon Annabel , Hannah-Shmouni Fady , Faucz Fabio , Minority Health-GRID Network Fabio , Davis Adam , Gibbons Gary , Lodish Maya , Stratakis Constantine

Context: Hypertension is one of the most preventable risk factors for cardiovascular disease and death. Up to 42.1% of non-Hispanic African-American subjects have hypertension. We recently found that germline ARMC5 variants may play a role in primary aldosteronism, particularly in African-Americans.Objective: We investigated a cohort of participants in the Minority Health Genomics and Translational Research Bio-Repository Database (MH-GRID) stud...

ea0099p225 | Adrenal and Cardiovascular Endocrinology | ECE2024

Baseline characteristics of children and adolescents with classic congenital adrenal hyperplasia enrolled in CAHtalyst pediatric, a phase 3 Study of Crinecerfont, a corticotropin-releasing factor type 1 receptor antagonist

Sarafoglou Kyriakie , Kim Mimi , Lodish Maya , Felner Eric , Martinerie Laetitia , Nokoff Natalie J. , Clemente Maria , Fechner Patricia Y. , Vogiatzi Maria , Speiser Phyllis , Sturgeon Julia , Roberts Eiry , Jeha George , Chan Jean L. , Farber Robert

Objective: To describe the baseline characteristics of individuals enrolled in CAHtalyst Pediatric (NCT04806451), a randomized, double-blind, placebo-controlled, Phase 3 study evaluating the safety and efficacy of crinecerfont (a corticotropin-releasing factor type 1 receptor [CRF1] antagonist) in children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD CAH).Methods: Key eligibility criteria...

ea0103oc5.3 | Endocrine Oral Communications 1 | BSPED2024

Crinecerfont in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: results from the phase 3 CAHtalyst pediatric study

Sarafoglou Kyriakie , Kim Mimi S. , Lodish Maya , Felner Eric I. , Martinerie Laetitia , Nokoff Natalie , Clemente Maria , Fechner Patricia Y. , Vogiatzi Maria G. , Speiser Phyllis W. , Dattani Mehul , B.G. Rosales Gelliza , Roberts Eiry , Jeha George S. , Farber Robert , Chan Jean L.

Background: In phase 2 studies, crinecerfont reduced ACTH and adrenal androgens in adults and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH). CAHtalyst Pediatric (NCT04806451, EudraCT 2020-004381-19) is the largest interventional trial to date in pediatric patients with classic CAH.Methods: Male and female participants, aged 2-17 years with elevated androstenedione and 17-OHP and taking GC at doses >12 ...

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...