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. 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. 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. 2.1 Steroid biosynthetic pathways in the human adrenal cortex. Shown are enzymes (underlined) and intermediates in the biosynthesis of adrenal steroid hormones. 17α-Hydroxypregnenolone is the preferred substrate for the…
Aldosterone-producing adenoma (APA)—30% of cases Bilateral idiopathic hyperplasia (IHA)—60% of cases Primary (unilateral) adrenal hyperplasia—2% of cases Aldosterone-producing adrenocortical carcinoma—<1% of cases Familial hyperaldosteronism (FH) Glucocorticoid-remediable aldosteronism (FH type 1)—<1%…
Symptoms Frequency Signs Frequency Headache ++++ Hypertension ++++ Palpitations +++ – Sustained ++ Sweating +++ – Paroxysmal ++ Anxiety/nervousness ++ Tachycardia or reflex bradycardia +++ Abdominal/chest pain ++ Sweating/diaphoresis +++ Nausea ++…
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%)…
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,…
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 or marker Population Number of patients Odds ratio P value MHC loci HLA-B*08 Norway [66] 414 2.6 4 × 10−11 HLA-DR3-DQ2 Norway [67] 94 3.6 <10−7 HLA-DR3-DQ2 Finland, Russia, Estonia [68]…
