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What are the tests for congenital adrenal hyperplasia?

2 doctors weighed in
Dr. Vered Lewy-Weiss
Pediatrics - Endocrinology

In brief: CAH testing

State newborn screening measures 17-oh progesterone.
If elevated, this could mean cah in the newborn. 21 hydroxylase deficiency causing elevation in 17- ohp is the most common cause of cah. With infants this is usually associated with salt wasting. Aldosterone & cortisol are low. Acth will be high given low cortisol. Girls usually have ambiguous genitalia. Peds endo cares for kids w/cah.

In brief: CAH testing

State newborn screening measures 17-oh progesterone.
If elevated, this could mean cah in the newborn. 21 hydroxylase deficiency causing elevation in 17- ohp is the most common cause of cah. With infants this is usually associated with salt wasting. Aldosterone & cortisol are low. Acth will be high given low cortisol. Girls usually have ambiguous genitalia. Peds endo cares for kids w/cah.
Dr. Vered Lewy-Weiss
Dr. Vered Lewy-Weiss
Thank
Dr. Nela Cordero
Pediatrics

In brief: ADRENAL HYPERPLASIA

Serum levels of 17-hydroxy progesterone, cortisol, corticosterone, Progesterone are low and dhea, androstenedione are high.

In brief: ADRENAL HYPERPLASIA

Serum levels of 17-hydroxy progesterone, cortisol, corticosterone, Progesterone are low and dhea, androstenedione are high.
Dr. Nela Cordero
Dr. Nela Cordero
Thank
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