1975
DOI: 10.1210/jcem-41-2-415
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Evidence for Partial 21-Hydroxylase Deficiency Among Heterozygote Carriers of Congenital Adrenal Hyperplasia

Abstract: Concentrations of 17-hydroxyprogesterone are significantly greater in heterozygous carriers of CVAH than in controls 30 and 60 minutes after an infusion of 25 units of synthetic ACTH 1-24 and 2 hours after beginning a 4-hour infusion of 50 units ACTH. The majority of carriers were clearly above the control range at these collection times. Hence, heterozygous carriers have a partial enzyme deficiency although all cannot be diagnosed based on 17-hydroxyprogesterone levels after ACTH stimulation.

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Cited by 58 publications
(25 citation statements)
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“…3.2 pg/1 [27], The upper limit in non-affected siblings was 1.7 pg/1 -at the same level as found in other studies: 1.5 [22,27] and 2.0 pg/1 [25].…”
Section: Resultssupporting
confidence: 87%
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“…3.2 pg/1 [27], The upper limit in non-affected siblings was 1.7 pg/1 -at the same level as found in other studies: 1.5 [22,27] and 2.0 pg/1 [25].…”
Section: Resultssupporting
confidence: 87%
“…As no control values from the general population were available and the non-affected siblings were so few, it is not possible to draw any significant conclusion. But the lower limit of ACTH-stimulated 17-OHP in all heterozy gotes was 2.3 pg/1 -this is at the same level as found in other studies: 2.5 [22,25] and Plasma concentrations are given before and 60 min after ACTH administration. Urinary excretions are given before and on the 3rd day of ACTH administration.…”
Section: Resultssupporting
confidence: 86%
See 1 more Smart Citation
“…The response of plasma 17-hydroxyprogesterone to ACTH yields essentially no false negatives and ap pears to be the most sensitive and specific diagnostic test for LOCAH. The elevated 17-hydroxyprogesterone response in LOCAH is approximately 10-fold greater than the mildly elevated responses seen in classic 21-hydroxylase deficiency heterozygotes [24][25][26][27][28][29], idiopathic hirsutism, or the polycystic ovary syndrome [16,30,31], Mild adrenal hyperandrogenism would not be expected to cause symptoms in men and probably explains why there have been few reports of LOCAH in men [32,33], One man with LOCAH. however, developed an apparent adrenal rest tumor [33], an entity frequently associated with the classic form of CAH [34][35][36].…”
Section: Introductionmentioning
confidence: 97%
“…In 1975 Lee and Garesis [3] described an abnormal increase in serum 17-OH progesterone levels in heterozygote parents following an ACTH infusion. Later, Gutai et al [4] and Krenskyei al.…”
mentioning
confidence: 99%