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The symptoms of CAH vary depending upon the form of CAH and the sex of the patient. Symptoms can include: Due to inadequate mineralocorticoids: [citation needed] Vomiting due to salt-wasting, leading to dehydration and death; Due to excess androgens: In extreme virilization, clitoromegaly (elongated clitoris) with a phallic-like structure is seen.
The cryptic form of (CAH) refers to a condition in which an individual is genetically determined to have the nonclassic variant of CAH but does not display any obvious symptoms. The term "cryptic" is used due to the lack of symptomatology in these individuals. Most males and some females with nonclassic CAH do not exhibit clinical signs or ...
Like the other forms of CAH, suspicion of severe 3β-HSD CAH is usually raised by the appearance of the genitalia at birth or by development of a salt-wasting crisis in the first month of life. These severe, classical forms can be observed at birth by the following symptoms: boys may not develop masculine characteristics fully, while girls may ...
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It is coded by a gene at 8q21-22. Like the other forms of CAH, a number of different defective alleles for the gene have been identified, producing varying degrees of impaired 11β-hydroxylase activity. Also like the other forms of CAH, 11β-OH CAH is inherited as an autosomal recessive disease.
Like other forms of CAH, 17α-hydroxylase deficiency impairs the efficiency of cortisol synthesis, resulting in high levels of ACTH secretion and hyperplasia of the adrenal glands. Clinical effects of this condition include overproduction of mineralocorticoids and deficiency of prenatal and pubertal sex hormones .
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