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%…
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]…
Symptoms Frequency Signs Frequency Headache ++++ Hypertension ++++ Palpitations +++ – Sustained ++ Sweating +++ – Paroxysmal ++ Anxiety/nervousness ++ Tachycardia or reflex bradycardia +++ Abdominal/chest pain ++ Sweating/diaphoresis +++ Nausea ++…
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…
