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…
Fig. 5.1 Simple thyroid cyst Fig. 5.2 Colloid cystic nodule Another pattern to recognize as a benign nodule is the “spongiform nodule” also described in the literature as honeycomb or…
Radionuclide Half-life Main emission Radiopharmaceutical Clinical use or relevance to thyroid nodules 123I 13 h Gamma [123I] NaI Scintigraphy and iodine uptake 124I 4 d Gamma and positron [124I] NaI…
Syndrome Gene Chromosomal location Inheritance Type of cancer Other features Isolated FMTC [151] RET 10q11.2 AD MTC MEN2A [151] RET 10q11.2 AD MTC Pheochromocytoma, hyperparathyroidism MEN2B [151] RET 10q11.2 AD…
