A 4-year-old male is found to have high blood pressure on multiple visits to your office. On examination, the patient has normal genitalia. Further laboratory workup reveals low serum aldosterone and high serum testosterone. Which of the following is most likely to be elevated in this patient?
This patient is most likely suffering from congenital 11-hydroxylase deficiency. 11-hydroxylase deficiency leads to the inability to synthesize aldosterone with a buildup of the mineralocorticoid 11-deoxycorticosterone.
11-hydroxylase deficiency is a form of congenital adrenal hyperplasia. The enzyme responsible for converting 11-deoxycorticosterone into aldosterone and 11-deoxycortisol into cortisol. A deficiency results in low levels of cortisol and high levels of 11-deoxycorticosterone which has mineralocorticoid activity and is responsible for the hypertension seen in this patient. Furthermore, sex hormones such as testosterone become elevated as cortisol precursors are diverted toward the androgen synthesis pathway. Male patients with 11-hydroxylase deficiency consequently have normal genitalia at birth, while females have ambiguous genitalia.
Illustration A details the adrenal hormone synthesis pathway.
This patient is most likely suffering from congenital 11-hydroxylase deficiency. 11-hydroxylase deficiency leads to the inability to synthesize aldosterone with a buildup of the mineralocorticoid 11-deoxycorticosterone.
11-hydroxylase deficiency is a form of congenital adrenal hyperplasia. The enzyme responsible for converting 11-deoxycorticosterone into aldosterone and 11-deoxycortisol into cortisol. A deficiency results in low levels of cortisol and high levels of 11-deoxycorticosterone which has mineralocorticoid activity and is responsible for the hypertension seen in this patient. Furthermore, sex hormones such as testosterone become elevated as cortisol precursors are diverted toward the androgen synthesis pathway. Male patients with 11-hydroxylase deficiency consequently have normal genitalia at birth, while females have ambiguous genitalia.
Illustration A details the adrenal hormone synthesis pathway.