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Review Question - QID 100389

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QID 100389 (Type "100389" in App Search)
A 5-year-old male visits his pediatrician for a check-up. His height corresponds to the 99th percentile for his age, and pubic hair is present upon physical examination. Serum renin and potassium levels are high, as is 17-hydroxyprogesterone. Which of the following is likely deficient in this patient?

17a-hydroxylase

5%

7/135

11ß-hydroxylase

10%

14/135

21-hydroxylase

80%

108/135

Aromatase

1%

2/135

5a-reductase

1%

1/135

Select Answer to see Preferred Response

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21-hydroxylase deficiency is the most common form of adrenogenital syndrome (congenital adrenal hyperplasia) and presents with precocious puberty, virilization, and accelerated linear growth. Hypotension and hyperkalemia may also be present due to a decrease in mineralocorticoids, with corresponding elevation in plasma renin levels.

21-hydroxylase deficiency is an autosomal recessive disorder where increased 17-hydroxyprogesterone and androgens occur as corticosteroid precursors are shunted to the androgenic synthesis pathways. Synthesis of cortisol and aldosterone are markedly decreased, which can result in hyperkalemia and hypotension and a compensatory increase in renin. Afflicted females present with pseudohermaphrodism due to virilization from elevated androgen production. Treatment includes exogenous glucocorticoids and mineralocorticoids.

Deaton et al. state that mild congenital adrenal hyperplasia (CAH) affects up to 1:100 persons in the US and is grossly underdiagnosed. They conclude that the diagnosis can be made in fetuses via HLA haplotype or demonstration of excess cortisol in the amniotic fluid.

Nimkarn et al. review 21-hydroxylase deficiency in CAH. This deficiency is the most common form of CAH. Disease severity depends on several factors,including the extent of impaired enzymatic activity, which is caused by different mutations of the 21-hydroxylase gene. Treatment centers around correcting the deficiency in cortisol secretion and suppressing the excess of androgens.

Illustration A diagrams steroidogenesis. Note the role of 21-hydroxylase (21a-hydroxylase in image) in the production of aldosterone and cortisol. Also note that 11ß-hydroxylase deficiency allows for production of 11-deoxycorticosterone, which acts as a mineralocorticoid when secreted in excess. Plasma renin and potassium levels are low in this disorder.

Incorrect answers:
Answer 1: Increased mineralocorticoid production and an absence of androgens characterize 17a-hydroxylase deficiency. Afflicted males present with pseudohermaphroditism due to an absence of dihydrotestosterone (DHT). Afflicted females lack secondary sex characteristics.
Answer 2: 11ß-hydroxylase deficiency differs symptomatically from 21-hydroxylase deficiency due to the presence of hypertension in afflicted patients with low renin and potassium levels.
Answer 4: Aromatase converts testosterone to estrogen. Its activity is low in males.
Answer 5: 5a-reductase converts testosterone to DHT. Enzyme deficiency results in male pseudohermaphroditism including female phenotype and lack of internal reproductive structures.

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