Page 49 Complete Your CE Test Online - Click Here Incidence ● ● If adrenogenital syndrome is inherited, it is referred to as congenital adrenal hyperplasia (CAH). The syndrome may also be caused by an adrenal tumor (adrenal virilism)[5,29] . Adrenogenital syndrome alert! A salt-losing form of CAH in neonates may cause a fatal adrenal crisis[5] . Some experts describe CAH as having two major types[29] : ● ● Classic CAH is the more severe form of the disease. It is usually diagnosed in infancy or early childhood. ● ● Non-classic CAH is the less severe form, which is usually recognized in late childhood or early adulthood. CAH is “the most prevalent adrenal disorder in infants and children” with simple virilizing CAH and salt-losing CAH being the most common forms[5] . Acquired adrenal virilism is a rare form of the disorder, affecting twice as many females as males[5] . About one in 10,000 to 18,000 infants are born with CAH[5,30] . Pathophysiology CAH is an inherited autosomal recessive trait. It is usually due to insufficient production of cortisol. Production of mineralocorticoids such as aldosterone and androgens such as testosterone may also be affected[29] . Various compensatory mechanisms are enacted to combat inadequate production of cortisol. For example: ● ● Simple virilizing CAH: There is a deficiency of 21-hydroxylase, which leads to cortisol deficiency. This deficiency triggers an increase in corticotropin secretion as a compensatory mechanism. The corticotropin increase causes the production of large amounts of cortisol precursors and androgens that do not need 21-hydroxylase for synthesis. Excess androgens cause male characteristics to appear early in males or inappropriately in females [5,30] . ● ● Salt-losing CAH: In this form of CAH, 21-hydroxylase is almost completely absent. This leads to an increase in corticotropin secretion, which leads to excessive production of cortisol precursors including those that are salt-wasting. At the same time cortisol and aldosterone levels that are dependent on 21-hydroxylase fall sharply. This abrupt decrease combined with excess amounts of salt-wasting compounds can trigger an acute adrenal crisis. Adrenal androgen production increases, and masculinization occurs[5] . Complications A number of complications are associated with CAH including[5] : ● ● Adrenal tumor. ● ● Altered growth patterns and abnormalities in external genitalia and sexual maturity. ● ● Cardiovascular collapse and cardiac arrest in neonates. ● ● Hyperkalemia. ● ● Hypertension. ● ● Infertility. Acquired adrenal virilism Although the focus of this education program is CAH, it is important to also describe acquired adrenal virilism and its effects. Acquired adrenal virilism occurs in the presence of adrenal tumors, malignancies, or adenomas. This disorder is rare, can occur at any age, and is twice as common in females as in males[5] . Symptoms vary with age and include[5] : ● ● Prepubescent females: Pubic hair, enlarged clitoris, delayed development of breasts, and delayed or absent menses. ● ● Females, especially those who are middle-aged: Appearance of dark hair on face, legs, arms, chest and back, oily skin, menstrual irregularities, development of masculine muscle mass, breast and uterine atrophy, and pubic hair that extends toward the navel. ● ● Prepubescent males: Significant enlargement of genitalia with penis and prostate development equal to that of an adult male, failure of testicular maturation, and hirsutism. ● ● Males: There are no obvious signs in males. The identification of a tumor is usually accidental. The following diagnostic results indicate acquired adrenal virilism[5] : ● ● Elevated urinary total 17-ketosteroids. ● ● Significantly elevated dehydroepiandrosterone levels. ● ● Normal serum electrolyte levels. ● ● Kidney x-rays may show kidney displacement caused by a tumor. Treatment involves surgical excision of the tumor and/or radiation and chemotherapy as needed. Prognosis is very good for patients who have slow-growing and non-recurring tumors[5] . Signs and symptoms of CAH Signs and symptoms of CAH depend on the severity of the disease and the age of the patient[30] . Female with simple virilizing CAH: Females have ambiguous genitalia such as an enlarged clitoris with a urethral opening at the base. There may be some labioscrotal fusion but the genital tract and gonads are normal[5] . As she ages and reaches puberty she develops[5,29,30] : ● ● Facial hair. ● ● Deep voice. ● ● Acne. ● ● Early appearance of pubic and axillary hair. ● ● Failure to menstruate. Male with simple virilizing CAH: The neonate male does not have obvious abnormalities. But at puberty he has accentuated masculine characteristics including a deep voice and an enlarged penis with frequent erections[5] . CAH alert! Both males and females may be taller than other children their age because they experience rapid bone and muscle growth. However, excessive androgen levels cause early epiphyseal closure, which leads to short adult height[5] . Females and males with salt-losing CAH The salt-losing form of CAH is more severe than the simple form and causes more complete virilization in females. Male external genitalia (but without testes) develop[5,29,30] . Males with salt-losing CAH have no abnormalities in external genitalia. Thus, diagnosis immediately after birth is difficult and usually delayed until severe signs and symptoms develop. In severe cases, signs of salt-losing CAH infants may develop as soon as 2 to 3 weeks after birth in both males and females. These signs include vomiting, diarrhea, dehydration, low potassium and sodium levels, and abnormal heart rhythms[29,30] . Infants are apathetic and fail to eat. These signs indicate the onset of adrenal crisis, which, unless treated promptly, may lead to cardiovascular collapse and cardiac arrest[5] . Diagnosis Physical examination shows ambiguous genitalia in females or, in severe forms of the disease, females may have overt male external genitalia. Precocious puberty (onset of puberty before the age of 9) in both females and males is also indicative of CAH[5] .