Endocrine Abstracts

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...

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...

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...

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...

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...

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...

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...