Primary Genetic disorders Congenital adrenal hyperplasia Adrenoleukodystrophy ACTH resistance syndromes ACTH insensitivity: familial glucocorticoid deficiency, triple-A syndrome Adrenal hypoplasia congenita Other transcription factors: SF1 (NR5A1) Drug induced Adrenostatic/adrenolytic: etomidate, ketoconazole,…
Mild hypercortisolism Overt hypercortisolism Diagnostic tests Sensitivity/specificity DSTa 75–100%/67–72% 100%/91% UFCb 36% 97%/91% MSCc 82%/60% 92–100%/93–100% Frequent mutations d Genetic mutations CTNNB1 (16%) ARMC5 (55% of BMAH)e PRKACA (35–69%)…
Fig. 1.1 Concentric layers of the mouse adrenal gland. (a) Schematic of the various regions of the adrenal. (b) A representative H&E longitudinal mouse adrenal section. Zones are identified by…
Gene Location Phenotype Characteristic laboratory findings CYP21A2 Classic forms 6p21.33 Ambiguous genitalia with virilization of females with continued postnatal virilization if undiagnosed Normal male genitalia at birth Acute adrenal insufficiency…
Fig. 13.1 Effects of mitotane on mRNA expression of several steroidogenic enzymes . Black diamonds identify a definitive inhibitory effect, whereas diamonds identify mixed effects More recently, Sbiera et al….
Fig. 3.1 Chemical structure of hydrocortisone (cortisol) showing the four rings, A through D, along with numbering system for the carbon molecules. Also shown are the important features necessary for…
Fig. 6.1 Acute and chronic regulation of aldosterone production. (a) The acute actions of Ang II and extracellular potassium (K+) on adrenal glomerulosa cell aldosterone production. Ang II binds type…
Fig. 8.1 Catecholamine and metanephrine synthesis pathway . PNMT phenylethanolamine N-methyltransferase, COMT catechol-O-methyltransferase, MAO monoamine oxidase, VMA vanillylmandelic acid Consequences of Catecholamine Hypersecretion Catecholamines and metanephrines bind to the seven…
Fig. 7.1 Schematic representation of the cAMP signaling pathway involved in the control of cortisol secretion in primary adrenal Cushing’s syndrome. The binding of ACTH to MC2R leads to dissociation…
Fig. 7.1 Benign macrofollicular cluster with uniform, evenly spaced nuclei Fig. 7.2 Benign macrofollicular clusters and pools of colloid from a benign thyroid nodule aspirate Fig. 7.3 Mixture of histiocytes…
