21-hydroxylase deficiency natural history, complications and prognosis

If left untreated, patients with 21-hydroxylase deficiency may progress to develop complications. Common complications of 21-hydroxylase deficient congenital adrenal hyperplasia include short stature, adrenal crisis, infertility, and precocious puberty. The prognosis of 21-hydroxylase deficiency is generally good with treatment.

• If left untreated, patients with 21-hydroxylase deficiency may progress to develop complications.
• Androgen excess in childhood leads to pseudoprecocious puberty, accelerated childhood growth with premature epiphyseal closure, which causes an overall short stature, and various metabolic abnormalities.
• Adults may also face fertility issues, both in classic and non-classic forms of 21-hydroxylase deficiency.
• Testicular adrenal rest tumors (nodular hyperplasia arising from cells that have many characteristics of adrenocortical cells and migrated with the testis during fetal development) may also occur and patients with 21-hydroxylase deficiency require monitoring for these tumors. These tumors indicate poor disease control and are usually reversible with optimum treatment.^[1][2]

Common complications associated with 21-hydroxylase deficiency include:^[1][2]

• Adrenal crisis
• Infertility
• Precocious puberty
• Virilization
• Dehydration
• Short stature

• The prognosis of 21-hydroxylase deficiency is generally good with treatment.
• A small percentage of children and adults with infancy or childhood onset 21 hydroxylase deficiency die of adrenal crisis, even after diagnosis and initiation of treatment.
• There may be no immediate worsening of symptoms if a person is well and has missed a dose or even several doses. However, glucocorticoid needs are increased during illness and stress.
• Missed doses during time of illness can lead (within hours) to hypotension, shock, and death.^[1][2]

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