Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
Overview
Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency: A rare form of congenital adrenal hyperplasia characterized by a deficiency of 11-Beta-hydroxylase which results in excess androgen production and hypertension. The disorder can occur in virilizing, hypertensive and salt-wasting forms and symptoms may range from mild to severe.
Symptoms
The list of signs and symptoms mentioned in various sources for Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency includes the 9 symptoms listed below: * Ambiguous external female genitalia * Hypertension * Masculinization of female infants * Precocious male puberty * Premature skeletal maturation * Premature development of secondary sex characteristics * Menstrual irregularities * Short stature * Female virilization
Causes
Adrenal hypofunction occurs when more than 90% of both adrenal glands are destroyed, an occurrence that typically results from an autoimmune process in which circulating antibodies react specifically against the adrenal tissue. Other causes include tuberculosis (once the chief cause; now responsible for less than 10% of adult cases), bilateral adrenalectomy, hemorrhage into the adrenal gland, neoplasms, and infections (acquired immunodeficiency syndrome, histoplasmosis, and cytomegalovirus). Rarely, a familial tendency to autoimmune disease predisposes the patient to adrenal hypofunction and other endocrinopathies. Secondary adrenal hypofunction that results in glucocorticoid deficiency can stem from hypopituitarism (causing decreased corticotropin secretion), abrupt withdrawal of long-term corticosteroid therapy (long-term exogenous corticosteroid stimulation suppresses pituitary corticotropin secretion and results in adrenal gland atrophy), or removal of a nonendocrine, corticotropin-secreting tumor. Adrenal crisis follows when trauma, surgery, or other physiologic stress exhausts the body’s stores of glucocorticoids in a person with adrenal hypofunction. Adrenal hypofunction affects 1 in 16,000 neonates congenitally. In adults, it affects 8 in 100,000 people, and males and females are affected equally. There’s no racial predilection.
Diagnosis
These home medical tests may be relevant to Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency: * Fatigue: Related Home Tests: * Home Anemia Tests * Home Thyroid Function Tests * Home Adrenal Function Tests * Home Calcium Deficiency Tests * Home HIV Tests * Bladder and Urinary Health: Home Testing: * Home Bladder Tests * Home Urinary Tract Infection (UTI) Tests * Home Cystitis Tests * Home Kidney Tests * Home Urine Protein Tests (Kidney Function) * Home Prostate Cancer Tests * Cold and Flu: Home Testing: * Home Fever Tests * Home Ear Infection Tests * Home Flu Tests * Adrenal Gland Health: Home Testing: * Kidney Health: Home Testing: * Home Microalbumin Tests (Kidney) * Home Urine Protein Tests (Kidney) * Home Urinary Tract Infection (UTI) Tests
Treatment
For all patients with primary or secondary adrenal hypofunction, corticosteroid replacement, usually with cortisone or hydrocortisone (both of which also have a mineralocorticoid effect), is the primary treatment and must continue throughout life. Adrenal hypofunction may also necessitate treatment with I.V. desoxycorticosterone, a pure mineralocorticoid, or oral fludrocortisone, a synthetic mineralocorticoid; both prevent dangerous dehydration and hypotension. Adrenal crisis requires prompt I.V. bolus administration of hydrocortisone. Later, doses are given I.M. or are diluted with dextrose in saline solution and given I.V. until the patient’s condition stabilizes. With proper treatment, adrenal crisis usually subsides quickly; the patient’s blood pressure should stabilize, and water and sodium levels should return to normal. After the crisis, maintenance doses of hydrocortisone preserve physiologic stability.