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Most popular medical Questions
Can clinical clues suggest that adrenal insufficiency is a primary rather than secondary problem?Primary adrenal insufficiency: Adrenocorticotropic hormone (ACTH) levels rise as a result of disruption of the hormonal feedback loop. Hyperpigmentation can result from these elevated levels. Primary deficiencies commonly lead to hyponatremia and hyperkalemia. Secondary adrenal insufficiency: ACTH levels are low, and no hyperpigmentation occurs. Furthermore, in secondary insufficiency, the zona glomerulosa of the adrenal gland (responsible for aldosterone secretion) remains intact. Therefore, hyperkalemia and/or volume depletion are distinctly uncommon, but hyponatremia may occur as a result of decreased capacity to excrete a water load.
What is the most common form of congenital adrenal hyperplasia (CAH)?
CAH refers to a group of autosomal recessive disorders that result from various enzymatic defects in the biosynthesis of cortisol. Depending on the enzyme involved, the blockade can result in excesses or deficiencies in the other steroid pathways (i.e., mineralocorticoids and androgens). 21-Hydroxylase deficiency accounts for >90% of cases; the complete (salt-losing) and partial (simple virilizing) forms occur in about 1 in 12,000 births and have an equal sex distribution. A late-onset or attenuated form (mild deficiency) manifests in adolescent females with hirsutism and menstrual irregularities.
In newborns with CAH, why are girls likely to be diagnosed earlier than boys?
The most obvious clinical feature of CAH in the newborn period is ambiguous genitalia as a result of excess androgen. In boys, androgen excess does not cause any clearly abnormal appearance of the external genitalia. In girls, however, ambiguous genitalia are common. CAH should always be considered in the differential diagnosis of ambiguous genitalia, particularly in genetic females.
When does adrenal-pituitary axis suppression occur in prolonged glucocorticoid treatment?
As a general rule, the longer the duration of treatment and the higher the dose, the greater the risk of adrenal suppression. If pharmacologic doses of glucocorticoids are used for 10 days, there is a relatively small risk of permanent adrenal insufficiency, whereas daily use for >30 days carries a high risk of transient or permanent adrenal suppression.
An 8-year-old in a spica cast after hip surgery develops vomiting and a serum calcium of 15.3 mg/dL. What should be the level of concern?
A serum calcium concentration of >15 mg/dL or the presence of significant symptoms (i.e., vomiting, hypertension) constitutes a medical emergency and requires immediate intervention to lower the calcium level. The initial mainstay of treatment is isotonic saline at 2-4 times maintenance rates and furosemide at 1 mg/kg intravenously every 6 hours. Furosemide is a potent diuretic and calciuric agent. Meticulous monitoring of input and output and of serum and urinary electrolytes (including serum magnesium) is vital. Electrocardiogram monitoring is mandatory because hypercalcemia can be associated with conduction disturbances including premature ventricular contractions, ventricular tachycardia, prolonged PR interval, prolonged QRS duration, and atrioventricular block. Additional treatment with glucocorticoids and antihypercalcemic agents may also be needed.
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