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Pathology

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The Endocrine System

Question
20 out of 32
 

A baby girl with ambiguous genitalia is found to have 21-hydroxylase deficiency of the salt wasting type. Which of the following karyotypes would you except to find? (LQ)



A 46, XX
B 46, XY

C 47, XXY
D 47, XYY

Ans. A i.e., 46 XX [Ref Harrison IS,h/e p. 3053, 3054]

21 hydroxylase deficiency

It is of two types :- a) Partial b) Complete

a. Partial hydroxylase deficiences-

i. Virilization in females.

ii. Increased secondary sexual characteristic in boys but normal at birth.

iii. 1/3 to 2/3 of patients presents with salt wasting.

iv. Hormone level i) Normal cortisol ii) Increased aldosterone iii) Increased androgens

b. Complete hydroxylase dificiency -

i. Virilization in females.

ii. Increased secondary sexual characters in boys (but normal at birth)

iii. Severe salt wasting

iv. Hormone level i) Decreased cortisol ii) Decreased aldosterone iii) Increased androgens

Also know :-

Most common cause of Ambiguous genitalia in a new born 21 hydroxylase deficiency.

The Endocrine System Flashcard List

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