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Adrenal crisis [2] Causes: Autoimmune processes, congenital etiologies, and physical trauma. [3] Diagnostic method: Morning serum cortisol levels, [4] Insulin tolerance testing, and ACTH stimulation test [2] Differential diagnosis: Congenital adrenal hyperplasia, Addison's disease, and Secondary adrenal insufficiency. [1] Treatment ...
The defects causing adrenal hyperplasia are congenital (i.e. present at birth). Steroidogenesis : The enzymes affected in CAH are represented by one red and four green bars on the top half of the diagram (for example, "21α-hydroxylase" is visible near the top center. "17α-hydroxylase" and "17,20 lyase" are carried out by a single enzyme). [ 29 ]
[2] [3] Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in all its forms accounts for over 95% of diagnosed cases of all types of congenital adrenal hyperplasia. [4] Unless another specific enzyme is mentioned, CAH in most contexts refers to 21-hydroxylase deficiency, and different mutations related to enzyme impairment have ...
Congenital adrenal hyperplasia is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. [ 23 ] [ 24 ] It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex . [ 25 ]
Late onset congenital adrenal hyperplasia (LOCAH), also known as nonclassic congenital adrenal hyperplasia (NCCAH or NCAH), is a milder form of congenital adrenal hyperplasia (CAH), [1] a group of autosomal recessive disorders characterized by impaired cortisol synthesis that leads to variable degrees of postnatal androgen excess. [1] [2] [3] [4]
Adrenal steroids such as glucocorticoids and mineralocorticoids are commonly used as treatments in diseases such as Congenital adrenal hyperplasia. [2] CAH commonly causes overproduction of androgens, glucocorticoid treatment is used to reduce Adrenocorticotropic hormone (ACTH) and reduce the production of androgens allowing for symptoms of CAH to be managed though treatment is required to be ...
Clitoromegaly is a rare condition and can be either present by birth or acquired later in life. If present at birth, congenital adrenal hyperplasia can be one of the causes, since in this condition the adrenal gland of the female fetus produces additional androgens and the newborn baby has ambiguous genitalia which are not clearly male or female.
Other causes include Congenital adrenal hyperplasia, insulin resistance, hyperprolactinemia, Cushing's disease, certain types of cancers, and certain medications. [4] [1] [3] Diagnosis often involves blood tests for testosterone, 17-hydroxyprogesterone, and prolactin, as well as a pelvic ultrasound. [1] [4] Treatment depends on the underlying ...