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Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. [1] [2] It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. [3]
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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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 ...
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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.