Pathology 3500 Lecture 25: Endocrine Disease III

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Lecture 010: Endocrine Disease III
Congenital Adrenal Hyperplasia
Results from a number of autosomal recessive enzymatic defect in the
biosynthesis of cortisol from cholesterol
Can’t produce glucocorticoids/ mineralocorticoids
Precursors are diverted into sex steroids
Deficiency of 21-hydrpyxlages (90% of cases )
Convert 17-OH progesterone to 1-deoxycortisol
Impaired cortisol synthesis
Precursors converted to androgens
Enlarged adrenal glands due increased ACTh
No negative feedback
Virilizing CAH, female infants exhibit pseudohermaphroditism
Symptoms depend on the enzymatic defect
May see salt-wasting CAH if aldosterone synthesis is also impaired
Hyponatremia, hyperkalemia, dehydration, gyptian, increase renin secretion, may
be fatal
Virilization of newborns
Pseudohermaphroditism of baby girls
Treatment
Administration of glucocorticoid and mineralocorticoid to reduced ACTH and
missing hormones
Adrenal insufficiency (hypofunction)
Acute adrenocortical insufficiency
Causes
Massive adrenal hemorrhage (Waterhouse-Friderichsen Syndrome)
Overwhelming sepsis
Meningococcal associated
Anticoagulated patients
Disseminated intravascular coagulation (DIC)
Sudden withdrawal of long-term exogenous corticosteroid therapy
Stress in patient with chronic adrenal insufficiency
May be life-threatening
Cardiovascular collapse
Marked electrolyte disturbances
Requires emergency steroid therapy
Chronic adrenal insufficiency
Autoimmune disease/Addison’s disease (autoimmune adrenalitis) most
common
Adrenal becomes small and fibrotic (destruction of cortex)
Lymphocytic infiltrate
Only small aggregates of cortical cells remain
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Document Summary

Results from a number of autosomal recessive enzymatic defect in the biosynthesis of cortisol from cholesterol. Deficiency of 21-hydrpyxlages (90% of cases ) May see salt-wasting cah if aldosterone synthesis is also impaired. Hyponatremia, hyperkalemia, dehydration, gyptian, increase renin secretion, may be fatal. Administration of glucocorticoid and mineralocorticoid to reduced acth and missing hormones. Sudden withdrawal of long-term exogenous corticosteroid therapy. Stress in patient with chronic adrenal insufficiency. Autoimmune disease/addison"s disease (autoimmune adrenalitis) most common. Adrenal becomes small and fibrotic (destruction of cortex) Only small aggregates of cortical cells remain. Symptoms due to a lack of drenaocortial hormones. Cortisol decrease leads to increase acth and melanocyte stimulating hormone (msh) Tumors that metastasize to the adrenal gland (lung) There are two main compartments of the pancreas. Island of cell in the middle of purple/blue cells. Cells are organized around a duct where they can secrete the digestive enzymes into. Regulates glucose utilization in cell thereby reducing blood glucose.

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