Endocrine Abstracts

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...

Background: Carney complex (CNC) is a rare multiple neoplasia syndrome, its commonest endocrine manifestation being ACTH-independent Cushing’s syndrome, histologically characterized by primary pigmented nodular adrenocortical disease (PPNAD). There is significant genetic and phenotypic heterogeneity, but deletions at 17q24.2 are rare. We describe the particular characteristics of a patient with a microdeletion in this area.Case report: A 37-year-old...

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...

Background: Various genetic syndromes have identified distinct and consistent behavior patterns. Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome first described by Dr Carney in 1985 as a complex of myxomas (cardiac, skin), spotty skin pigmentation, and endocrine over activity. CNC is caused by mutations of the PRKARIA gene that encodes the RIα regulatory subunit of Protein kinase A (PKA). We recently reported that a Prkar1a heterozyg...

Introduction: Patients with “mixed” phenotypes are common among patients with multiple endocrine and non-endocrine neoplasias. Their diagnoses do not fit a given pattern making ge netic counseling difficult and testing impossible to guide. Most of these patients end up getting genome-wide studies for the identification of any predisposing genetic defect. We present a rare case of a 57 year old female who presented clinically with medullary thyroid cancer (MTC), mesot...

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...

Introduction: Germline inactivating mutations of the protein kinase A (PKA) regulatory subunit RIα (the PRKAR1A gene) cause primary pigmented nodular adrenocortical disease (PPNAD); other cyclic AMP (cAMP) signalling defects have been associated with bilateral adrenocortical hyperplasia (BAH), cortisol-producing adenoma (CPA) and related lesions. Recently, PRKACA somatic mutations were detected in single, sporadic CPAs in approximately 40% of patients wi...