QuestionSBA
QuestionChoice
This is not the correct answer. 3β-hydroxylase is an enzyme in the adrenal steroidogenesis pathway, but it is not the most common enzymatic defect in congenital adrenal hyperplasia.
10027325
e
3β-hydroxylase
QuestionChoice
This is not the correct answer. 11β-hydroxylase is an enzyme in the adrenal steroidogenesis pathway, but it is not the most common enzymatic defect in congenital adrenal hyperplasia.
10027323
c
11β-hydroxylase
QuestionChoice
This is not the correct answer. 17α-hydroxylase is an enzyme in the adrenal steroidogenesis pathway, but it is not the most common enzymatic defect in congenital adrenal hyperplasia.
10027322
b
17α-hydroxylase
QuestionChoice
This is not the correct answer. The steroidogenic acute regulatory protein is a regulator of cholesterol transfer within the mitochondria, which is also known as the rate-limiting step in the adrenal steroidogenesis pathway. However, it is not the most common enzymatic defect in congenital adrenal hyperplasia and is known to cause lipoid congenital adrenal hyperplasia if deficient.
10027324
d
Steroidogenic acute regulatory protein
QuestionChoice
This is the correct answer. Congenital Adrenal Hyperplasia (CAH) is a group of inherited, autosomal recessive genetic disorders caused by enzyme defects in the adrenal cortex, which disrupts steroid hormone synthesis. The most common variant, 21-hydroxylase deficiency, is the only one you have to remember. Diagnosis is made through hormone assays and genetic testing.
10027321
a
21-Hydroxylase
Concept
Chapter
2693
5779
Congenital Adrenal Hyperplasia
Topic
153
Paediatrics
17862
Which of the following is the most common enzymatic defect in congenital adrenal hyperplasia?
a