Complications
An adrenal crisis is characterized by azotemia, vascular collapse, shock, and death. This can occur as early as 1 to 4 weeks of age. An injection or intravenous infusion of hydrocortisone with intravenous fluids should be given immediately. Magic Foundation: congenital adrenal hyperplasia Opens in new window This complication occurs as a result of decreased cortisol levels.
Children with classical congenital adrenal hyperplasia are at risk for early puberty. However, when they are adequately treated, the onset of puberty in both girls and boys usually occurs at the expected chronologic age. True precocious puberty can be treated with gonadotropin-releasing hormone (GnRH) analogs.
In congenital adrenal hyperplasia, long-term glucocorticoid use is associated with low bone mineral density.[37] Glucocorticoids affect bone health both directly and indirectly, leading initially to increased resorption and a later decrease in bone formation. These changes result in microarchitectural distortion and increased fracture risk.
Rates of adrenal tumors are increased in congenital adrenal hyperplasia. Many of these lesions are myelolipomas, which are benign, slow growing, hormonally inactive of the adrenal cortex composed of adrenal, myeloid and adipose components. They can grow considerably in size and can lead to abdominal pain or symptoms of mass effect.
They are considered the result of daily treatment with supraphysiologic doses of glucocorticoids. Obesity and dyslipidemia have been observed from childhood. Insulin resistance and increased risk for cardiometabolic complications have been described in adults.
Individuals with classical congenital adrenal hyperplasia (CAH) have reduced fertility. Elevated adrenal androgens can lead to chronic anovulation and endometrial dysfunction in women and Leydig cell dysfunction in men. In addition, TARTs can cause obstructive azoospermia in men. These benign tumors are most often seen in male patients with classical salt-wasting CAH who are inadequately treated and resemble histologically adrenocortical tissue. Deficient spermatogenesis is also found. Regular screening with testicular ultrasound is recommended, beginning in adolescence.[14] Imaging with magnetic resonance imaging (MRI) or ultrasound plus biopsies can confirm the benign nature of the tumor. Treatment with glucocorticoid replacement therapy will usually cause reduction in the masses, but resection or orchiectomy may be required. Suppression of adrenal androgen secretion represents the first line of therapy toward spontaneous conception in both sexes. Reproductive outcomes have improved over the years. Women have an increased risk for miscarriages, which decreases with glucocorticoid treatment. Women with nonclassical CAH may come to medical attention because of irregular menses and infertility.
Can be the result of excessive treatment with fludrocortisone, supraphysiologic doses of daily glucocorticoids, or obesity. Hypertension has been observed starting from childhood.
In classical congenital adrenal hyperplasia (CAH), irregular menses and hirsutism may occur despite adequate control. In this case, an oral contraceptive pill (OCP) can be considered. In nonclassical CAH, this may be the primary symptom of disease and an OCP would be an option for glucocorticoid-sparing therapy. Of note, this would be 2 to 3 years following menarche.
Ovarian adrenal rests (benign tumors) are quite rare but may occur in 46,XX patients with classical salt-wasting congenital adrenal hyperplasia (CAH) who are inadequately treated. Regular screening is not recommended, but clinicians should be aware of this potential and consider in cases requiring high doses of glucocorticoids without control. Imaging with MRI or ultrasound plus biopsies can confirm the benign nature of the tumor. Treatment with glucocorticoid replacement therapy will usually cause reduction in the masses, but resection may be required.
Excess androgens can lead to an advanced bone age. Treatment with glucocorticoids, and in some cases combined treatment with growth hormone, aromatase inhibitors, and GnRH analogs to suppress early puberty, have been used to improve final height in children.[35][36] Dosing is determined and should be delivered by an endocrinologist familiar with the use of these hormones. Aromatase inhibitors are also being used off-label to decelerate bone age progression.
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