ACTH DEFICIENCY ACTH SYNTHESIS — POMC also contains the sequences for other hormonal peptides, including the melanocyte-stimulating hormones (MSHs) lipotropins (LPHs), and beta-endorphin (beta-END) ACTH is synthesized as part of a large precursor (241 amino acids in humans) called proopiomelanocortin (POMC). Adrenal insufficiency secondary to ACTH defi­ciency is due to...
Read more
HYPOTHALAMIC, PITUITARY AND OTHER SELLAR MASSES Pituitary tumors , Pituitary adenomas   : Commonest tumors are pitu­itary adenomas. These are benign and their features depend on the cell type from which they occur. They may arise from PRL, GH, ACTH, TSH, LH and FSH producing cells r;esulting in features of hyperse­cretion of...
Read more
PRESENTATIONS OF HYPOPITUITARISM This depends on the hormones which are deficient. GH deficiency causes growth disorder and abnor­mal body structure. Gonadotrophin deficiency causes infertility, men­strual and sexual dysfunction and loss of secondary sexual characteristics in men. TSH and ACTH deficiency cause growth retarda­tion, hypothyroidism, adrenal insufficiency. Mineralo­corticoid action is retained....
Read more
Disorders of Anterior PituitaryHormones The anterior pituitary is called the master gland be­ , it regulates the function of most other endocrine organs. The anterior pituitary gla’nd produces 6 major hor­mones. 1, Prolactin (PRL) 2. Growth hormone (GH) 3. Adrenocorticotropin hormone (ACTH) 4. Luteinizing hormone (LH) 5. Follicle stimulating hormone...
Read more
Glycogen Storage Diseases Carbohydrate metabolism provides energy for meta­bolic functions of cell. Metabolism of glucose generates ATP by glycolysis and oxidative phosphorylation. Any one of several heritable diseases characterized by the abnormal storage and accumulation of glycogen in the tissues, esp. in the liver Dietary sources of glucose: · Polysaccharide...
Read more
Porphyrias The porphyrias are inherited disorders. porphyrias are metabolic disorders caused by altered activities of enzymes within the heme biosynthetic pathway Acute intermittent porphyria: Pyrroloporphyria; neuropsychiatric–abdominal -Aminolevulinic aciduria; neuropsychiatric–abdominal Congenital erythropoietic porphyria: Günther disease; severe dermatologic Hereditary coproporphyria: Neuropsychiatric, occasionally dermatologic Other rare genetic variants reported Porphobilinogen synthetase deficiency: Porphyria...
Read more
Amyloidosis Amyloidosis is deposition of insoluble amyloid fibrils in extracellular spaces of organ and tis­sues due to abnormal protein folding. metabolic disorders resulting from the insidious deposition of protein-containing fibrils (amyloid) in tissues, diseases characterized by extracellular deposition of insoluble protein fibrils in organs and tissues clinical manifestations of amyloidosis...
Read more