Examples of congenital adrenal hyperplasia in the following topics:
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- Congenital adrenal hyperplasia refers to an autosomal recessive disease caused by mutated genes for enzymes that produce cortisol from cholesterol.
- Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis).
- Inefficient cortisol production results in rising levels of ACTH, which in turn induces overgrowth (hyperplasia) and overactivity of the steroid-producing cells of the adrenal cortex.
- The defects causing adrenal hyperplasia are congenital (i.e., present at birth).
- In all its forms, congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for about 95% of diagnosed cases of CAH.
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- Addison's disease and congenital adrenal hyperplasia can manifest as adrenal insufficiency.
- Primary adrenal insufficiency is due to impairment of the adrenal glands.
- Other cases are due to congenital adrenal hyperplasia or an adenoma (tumor) of the adrenal gland.
- For chronic adrenal insufficiency, the major contributors are autoimmune adrenalitis, tuberculosis, AIDS, and metastatic disease.
- Evaluate the types of adrenal insufficiency that lead to adrenal gland disorders
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- Intestinal malabsorption may be due to mucosal damage (enteropathy); congenital or acquired reduction in absorptive surface; defects of specific hydrolysis; defects of ion transport; pancreatic insufficiency; or impaired enterohepatic circulation.
- This small intestine biopsy from a patient with celiac disease shows blunting of the villi, crypt hyperplasia, and lymphocyte infiltration of the crypts.