Medical Care
Exogenous glucocorticoid therapy is the treatment of choice. Oral hydrocortisone (or other glucocorticoid) suppresses adrenocorticotropic hormone (ACTH) secretion and decreases 11-deoxycorticosterone (11-DOC) and corticosterone levels.
Potassium and blood pressure abnormalities resolve after suppression of excessive mineralocorticoid activity, although some hypertension may persist for months to years in older or more severely affected individuals. Patients with this condition require additional antihypertension therapy. Additionally, estrogen therapy has been suggested to worsen hypertension in a few patients. [3]
At puberty, male patients require sex steroid replacement (ie, testosterone). Female patients require cyclic estrogen-progesterone therapy. These therapies promote development of secondary sexual characteristics in both sexes and cyclic menstrual bleeding in 46,XX females.
Adults with 17-hydroxylase deficiency
Although extensive literature and experience regarding treatment of pediatric patients is available, little has been published regarding treatment of adults with congenital adrenal hormone deficiencies. Certainly, no consensus or published guidelines are available regarding types, dosages, or timing of steroid replacement in adult patients. [34, 35]
One survey in the United Kingdom demonstrated that the most widely used glucocorticoid in adult patients was hydrocortisone, followed by dexamethasone and prednisolone. Sixty percent of physicians surveyed used larger doses of glucocorticoids at night (reverse circadian pattern) to achieve adrenocorticotropic hormone (ACTH) suppression, and only 16% of treating physicians used body weight or surface area to determine dosage. [35]
Adult patients must be continuously and carefully treated, using body size or weight-related dosages (in a manner analogous to pediatric treatment) to avoid extremes of overtreatment and undertreatment.
Surgical Care
Perform a orchidectomy in 46,XY males who are raised as females; intra-abdominal testes carry a high risk of tumorous and malignant transformation. [12]
Manifestations of 17OHD in 46,XX females include ovarian cysts and painful cyst rupture which may require surgical intervention. [32]
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17-Hydroxylase Deficiency Syndrome. Normal adrenal steroid biosynthesis results in three products: mineralocorticoids (aldosterone), glucocorticoids (cortisol), and androgens (androstenedione). Cortisol production is regulated by feedback with adrenocorticotropic hormone (ACTH). ACTH stimulates the enzyme P-450scc (20,22 desmolase), with subsequently increased production of all adrenal steroids.
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17-Hydroxylase Deficiency Syndrome. Representation of typical congenital adrenal hyperplasia (CAH). This example shows a deficiency in both the mineralocorticoid and glucocorticoid pathways. Decreased serum cortisol levels stimulate adrenocorticotropic hormone (ACTH) release via negative feedback. Increased ACTH secretion causes overproduction of adrenal steroids preceding the missing enzyme as well as those not requiring the missing enzyme. The example depicts a deficiency of 21-hydroxylase, resulting in deficient mineralocorticoid and glucocorticoid production and excessive androgen production.
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17-Hydroxylase Deficiency Syndrome. C-17α-hydroxylase is necessary to convert pregnenolone to 17-hydroxypregnenolone (17-OH Preg) and progesterone to 17-hydroxyprogesterone (17-OH Prog). Absence of C-17α-hydroxylase impairs all sex steroid and cortisol production. Low levels of cortisol result in increased adrenocorticotropic hormone (ACTH) stimulation of steroids prior to the 17-hydroxylase step, resulting in increased accumulation and secretion of 17-deoxysteroids by the zona fasciculata, including pregnenolone, progesterone, deoxycorticosterone (DOC), and corticosterone.
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17-Hydroxylase Deficiency Syndrome. Graphic illustration of deficiency. Absence of C-17α-hydroxylase impairs all sex steroid and cortisol production.
