Page 50 Complete Your CE Test Online - Click Here Laboratory findings that help confirm the diagnosis of CAH include[5, 30] : ● ● Elevated plasma 17-ketosteroids that can be suppressed by giving oral dexamethasone. ● ● Elevated urinary levels of hormone metabolites. ● ● Elevated plasma 17-hydroxprogesterone level. ● ● Normal or decreased urinary levels of 17-hydroxycorticosteroids. Diagnosis alert! Adrenal crisis or evidence of adrenal hypofunction in the first week of life suggests salt-losing CAH[5] . Treatment Treatment focuses on return of hormone levels to normal or to near normal[5,30] . This involves administering a large, intramuscular dose of cortisone or hydrocortisone. Dosage is adjusted according to urinary 17-ketosteroid levels. Infants receive hormonal therapy intramuscularly until they reach the age of 18 months after which they can be given the hormones orally[5] . Patients with ambiguous external genitalia undergo sex chromatin and karyotype studies to determine their genetic sex. Females who have male external genitalia undergo reconstructive surgery between the ages of 1 and 3 years following evaluation of the impact of cortisone therapy [5] . Instruct patients’ parents that the child should wear a medical identification bracelet explaining that they are on long-term steroid therapy. Counseling and emotional support should be provided as parents deal with the psychological impact of CAH[5,30] . Hermaphroditism Hermaphroditism is a condition appropriately mentioned as part of a discussion of CAH. Hermaphroditism is a rare condition in which children have both ovarian and testicular tissues. External genitalia are usually ambiguous, but may also be completely male or female, which effectively “hides” hermaphroditism until puberty. The child with hermaphroditism almost always has a uterus and ambiguous gonads. Fertility, however, is rare[5] . Lab studies similar to those of CAH are performed to rule out congenital adrenal hyperplasia[5] . Sexual assignment is based on the anatomy of the external genitalia. Reconstructive surgery, during which inappropriate reproductive organs are removed, is performed as early as possible to prevent the development of incongruous secondary sex characteristics at puberty. Hormonal replacement may be needed[5] . Parents need emotional support and counseling as they deal with their choice of sexual assignment of their children[5] . Pheochromocytoma Pheochromocytoma is a rare, catecholamine-secreting tumor associated with hyperfunction of the adrenal medulla leading to an excessive secretion of epinephrine and norepinephrine. It may trigger life- threatening hypertension as well as an increase in metabolism and hyperglycemia[5,6,31] . Although this disease is potentially fatal, prognosis is good with appropriate treatment. Kidney damage associated with the disease, however, is irreversible[5] . Incidence and etiology Pheochromocytoma affects all races and both men and women. It can occur at any age, but is most common between the ages of 30 and 60 and rare in people over the age of 65[5,6] . The majority of pheochromocytoma tumors are benign, but 10% are malignant with associated metastasis[6] . Ninety-five percent of pheochromocytomas are located in the abdomen, and may occur as the result of an inherited autosomal dominant trait[5] . Complications Complications associated with pheochromocytoma include[5, 6] : ● ● Heart failure. ● ● Irreversible damage to the kidneys. ● ● Retinopathy. ● ● Stroke. Signs and symptoms Pheochromocytoma causes episodes typically characterized by[31] : ● ● Headaches. ● ● Palpitations. ● ● Diaphoresis. ● ● Severe, possibly life-threatening, hypertension. Occurrence of these episodes can vary from once every two months to as often as 25 times a day, and they may last from seconds to hours. As time goes by, these episodes usually occur more often and become more severe as the tumor grows in size[5,31] . Episodes can occur spontaneously or follow specific triggering events such as exercise, smoking, urination, or a change in environmental or body temperature [5] . Additional clinical manifestations that may also be part of pheochromocytoma episodes include[5,31] : ● ● Abdominal pain. ● ● Anxiety. ● ● Constipation. ● ● Fever. ● ● Flank pain. ● ● Pallor. ● ● Paresthesia. ● ● Sense of impending doom. ● ● Tachycardia. ● ● Tremors. ● ● Warmth or flushing. ● ● Weight gain or weight loss. Nursing consideration: Pheochromocytoma is often diagnosed during pregnancy when the expanding uterus puts pressure on the tumor, thus, triggering more frequent attacks. These attacks can lead to stroke, cardiac arrhythmias, acute pulmonary edema, or hypoxia, any of which can be fatal to mother and/or fetus. The risk of spontaneous abortion is significant, but most infant deaths take place during labor or immediately after birth[5] . Diagnosis The most common indicator for pheochromocytoma is continuous hypertension and a history of episodes characteristic of the disease [5,31] . The tumor itself is rarely palpable, and findings from diagnostic laboratory tests are necessary to confirm diagnosis[5,31] . The following tests are used to diagnosis pheochromocytoma[5,6,31] : ● ● Urine plasma catecholamine levels: A baseline specimen is obtained and another obtained during an episode of hypertension. Levels are elevated during a hypertensive episode.