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Ambiguous genitalia at birth
0%
0/8
Hypertension
Skin hypopigmentation
Precocious puberty
62%
5/8
Puberty delay
38%
3/8
Select Answer to see Preferred Response
This male with non-classical congenital adrenal hyperplasia (CAH) would most likely present with precocious puberty (onset of sexual maturation before age 9 in boys) as a result of excess testosterone production. CAH is an autosomal recessive disorder that has several different forms. The classic form is the most severe and presents in newborn females with salt-wasting and ambiguous genitalia. Milder, nonclassic forms can present anytime from childhood to adulthood with the signs and symptoms of hypertestosteronism, including virilization, hirsutism, acne, short stature, and possibly late-onset of menses. 21-hydroxylase deficiency causes most forms of the disorder. Incorrect answers: Answer 1: An ambiguous genitalia may be seen in female patients with 21-hydroxylase deficiency, but is not usually seen in males. Answer 2: Hypertension is seen in patients with 11-hydroxylase deficiency; patients with 21-hydroxylase deficiency are hypotensive. Answer 3: Patients with both 21 and 11-hydroxylase deficiencies are usually hyperpigmented as a result of excess ACTH production. Answer 5: Patients with 17-hydroxylase deficiency have a puberty delay.
5.0
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