Endocrine Abstracts

In the last 30 years, an unprecedented production of new knowledge about the tumors of the pituitary gland has led to a series of new discoveries important for the understanding of how these neoplasms form and the management of our patients. These tumors are often caused by germline or somatic mutations in an ever expanding list of genes; a growing list of genetic defects associated with inherited predisposition to pituitary tumors means implications for the families of the pa...

Carney triad (CT) describes the association of paragangliomas (PGLs) with gastrointestinal stromal tumors (GISTs) and pulmonary chondromas (PCH). In addition to pheochromocytomas, a number of other lesions have been described in the condition including pheochromocytomas, esophageal leiomyomas, and adrenocortical adenomas; CT, therefore, is a novel form of multiple endocrine neoplasia (MEN). CT appears to be a genetic condition with a female predilection. Inactivating mutations...

Context: Endogenous Cushing’s syndrome (CS) may have different effects in children than what has been described in adults. Prior studies of children and adolescents with CS have identified cognitive decline despite reversal of brain atrophy after remission of CS, as well as residual impairment in quality of life measures. Although the observations of parents of children and adolescents with CS support personality changes, significant psychopathology has not been described...

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...

Pathogenic ARMC5 variants are the main genetic cause of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) explaining roughly 20% of index cases. These variants found both at germline and somatic level are mostly frameshift and nonsense leading to a loss of its function. ARMC5 acts then, as a tumor suppressor gene but little was initially known on its function. Using an RNAseq analysis on transient zebrafish models of Armc5 up- and d...

ACTH independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing’s syndrome. Both Phosphodiesterase 11A4 (PDE11A4) mutations and inactivating mutations of armadillo repeat containing 5(ARMC5) have been associated with familial AIMAH. A family with autosomal dominant AIMAH was studied trying to elucidate the involved genetic basis.Methods and results: Adrenal hypercortisolism with giant bilateral AH was diagnosed in three adult me...

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...