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]…

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…