1980
DOI: 10.1111/j.1365-2265.1980.tb01372.x
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An Improved Method for the Detection of Heterozygosity of Congenital Virilizing Adrenal Hyperplasia

Abstract: A modified short ACTH test for the detection of heterozygote carriers of 21-hydroxylase deficiency (21-OHD) was applied to twenty-one controls and fourteen parents of children with 21-OHD. The following modifications were introduced: (1) Endogenous ACTH was suppressed by dexamethasone administration prior to the test, (2) Plasma 17-hydroxyprogesterone (17-OHP), cortisol (F), progesterone (P), corticosterone (B) and delta 4- androstenedione (A) were measured, (3) Variables studied were the ratio of plasma incre… Show more

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Cited by 30 publications
(9 citation statements)
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“…17-OHP and A responses at 15, 30 and 60 min after (31_24-ACTH injection were in the normal range [Lejeune-Lenain et al, 1980a] in all patients. The ratio of serum increments between 17-OHP and F was nor mal in all cases.…”
Section: P'-^-acth Stimulation Test (20 Patients)mentioning
confidence: 75%
See 1 more Smart Citation
“…17-OHP and A responses at 15, 30 and 60 min after (31_24-ACTH injection were in the normal range [Lejeune-Lenain et al, 1980a] in all patients. The ratio of serum increments between 17-OHP and F was nor mal in all cases.…”
Section: P'-^-acth Stimulation Test (20 Patients)mentioning
confidence: 75%
“…The measurement of cortisol and 17-OHP during the ACTH stimulation test is useful in detecting the different forms of 21-hydroxy lase and 11 (5-hydroxylase adrenal deficien cies [Lejeune-Lenain et al, 1980a;Lobo and Goebelsmann, 1980;Rosenfield et al, 1980;Blankstein et al, 1980] in patients with nor mal basal values. The measurement of DHA-S during the same test could be useful in mild cases of 3(5-hydroxydehydrogenase defi ciency [Lobo and Goebelsmann, 1981 ].…”
Section: Discussionmentioning
confidence: 99%
“…None of the remaining 186 women had hypothalamic ovarian insufficiency, congenital adrenal hyperplasia (CAH), hyperprolactinemia, Cushing's syndrome or androgen secreting tumors. Nineteen of the women had an elevated ACTH-index [8] during an ACTH stimulation test [9]. We performed genetic testing for 21-OH-deficiency in order to rule out late onset and heterozygous CAH in these 19 women, with 14 testing positively for heterozygosity.…”
Section: Methodsmentioning
confidence: 99%
“…In all women meeting criteria for PCOS late onset and heterozygous non-congenital adrenal hyperplasia were excluded with an ACTH stimulation test following overnight dexamethasone suppression, as previously described by Lejeune-Lenain [26]. …”
Section: Methodsmentioning
confidence: 99%