Heterozygotes for 17 alpha-hydroxylase deficiency can be detected with a short ACTH test.
A short ACTH test was performed in the six parents, and four siblings, of three cases with 17 alpha-hydroxylase deficiency. Baseline steroid levels were all normal in female heterozygotes but in males 17 alpha-hydroxyprogesterone levels were elevated. After ACTH-stimulation, plasma levels of corticosterone were elevated in five obligate heterozygotes and 18-hydroxydeoxycorticosterone levels were increased in four of them. Two of the four siblings had biochemical signs of heterozygosity. The short ACTH test appears to be an efficient method for detecting heterozygosity, but the abnormalities found are more heterogeneous than previously suggested.
Wit
J M
JM
Department of Pediatrics, University Hospital for Children, Utrecht, The Netherlands.
van Roermund
H P
HP
Oostdijk
W
W
Benraad
T J
TJ
Thijssen
J H
JH
Boer
P
P
Jansen
M
M
Spit
M
M
van den Brande
J L
JL
D000293:Adolescent; D000305:Adrenal Cortex Hormones / Q000097:blood; D000312:Adrenal Hyperplasia, Congenital; D000324:Adrenocorticotropic Hormone; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004958:Estradiol / Q000097:blood; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D008297:Male; D011374:Progesterone / Q000097:blood; D013250:Steroid Hydroxylases / Q000172:deficiency*; D013739:Testosterone / Q000097:blood
D000305:Adrenal Cortex Hormones; D013739:Testosterone; D011374:Progesterone; D004958:Estradiol; D000324:Adrenocorticotropic Hormone; D013250:Steroid Hydroxylases