Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a genetic disorder characterized by impaired production of cortisol in the adrenal glands.[1]
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
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Other names | 21-OH CAH |
CT scan shows enlarged adrenals with masses consistent with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (image credit: NICHD/A. Mallappa, D. Merke) | |
Specialty | Endocrinology |
Symptoms | Androgen excess and corticosteroid deficiencies |
Frequency | 1:18,000 to 1:14,000 (classical forms); 1:1000 to 1:50 (nonclassical forms) |
It is classified as an inherited metabolic disorder. CAH is an autosomal recessive condition since it results from inheriting two copies of the faulty CYP21A2 gene responsible for 21-hydroxylase enzyme deficiency. The most common forms of CAH are: classical form, usually diagnosed at birth, and nonclassical, late onset form, typically diagnosed during childhood or adolescence, although it can also be identified in adulthood when seeking medical help for fertility concerns or other related issues, such as PCOS or menstrual irregularities.[1] Carriers for the alleles of the nonclassical forms may have no syptoms, such form of CAH is sometimes called cryptic form.[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 been mapped on protein structures of the enzyme.[5] It is one of the most common autosomal recessive genetic diseases in humans.[6][7][8]
Due to loss of 21-hydroxylase function, patients are unable to efficiently synthesize cortisol. As a result, ACTH levels increase, leading to adrenocortical hyperplasia and overproduction of cortisol precursors, which are used in the synthesis of sex steroids, which can lead to signs of androgen excess, including ambiguous genitalia in newborn girls and rapid postnatal growth in both sexes.[1] In severe cases of CAH in females, surgical reconstruction may be considered to create more female-appearing external genitalia. However, there is ongoing debate regarding timing and necessity of surgery. The way CAH affects the organism is complicated, and not everyone who has it will show signs or have symptoms.[4] Individuals with CAH may face challenges related to growth impairment during childhood and fertility issues during adulthood. Psychosocial aspects such as gender identity development and mental health should also be taken into consideration when managing individuals with CAH.[1] Overall prognosis for individuals with appropriate medical care is good; however, lifelong management under specialized care is required to ensure optimal outcomes.[1]
Treatment for CAH involves hormone replacement therapy to provide adequate levels of glucocorticoids and mineralocorticoids. Regular monitoring is necessary to optimize hormone balance and minimize potential complications associated with long-term glucocorticoid exposure.[1]