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Congenital adrenal hyperplasia family studies using the short ACTH test
Author(s) -
KREUTZMANN D. J.,
COWELL C. T.,
HOWARD N. J.,
SOUZA M. De,
SILINK M.
Publication year - 1989
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1989.tb02353.x
Subject(s) - congenital adrenal hyperplasia , 21 hydroxylase , medicine , endocrinology , heterozygote advantage , hydrocortisone , hydroxyprogesterone , adrenocorticotropic hormone , hyperplasia , hormone , steroid , biology , allele , genetics , gene
Because of the increasing use of 17‐hydroxyprogesterone (17OHP) levels with the short adrenocorticotrophic hormone (ACTH) test in the detection of 21‐hydroxylase deficiency, the diagnostic efficiency of the test was evaluated in patient and family studies of congenital adrenal hyperplasia due to 21‐hydroxylase deficiency and of congenital adrenal hyperplasia due to 11‐hydroxylase (11OH) deficiency (the latter disorder now overlapse basally with the milder non‐classical 21‐hydroxylase deficiency [NC‐CAH]). Stimulated 17‐hydroxyprogesterone level (17OHP 30 ), 17‐hydroxyprogesterone increase (Δ17OHP) and the ratio 17‐hydroxyprogesterone increase to cortisol increase (Δ17OHP/Δcortisol) were the parameters from the short ACTH test derived for assessment. 17‐OHP 30 provided complete differentiation of NC‐CAH from the controls and heterozygotes, but overlap between NC‐CAH and 11‐OH occurred. Complete differentiation of NC‐CAH from 11‐OH was achieved using Δ17OHP. The heterozygotes showed best differentiation from the controls using Δ17OHP/Δcortisol with a diagnostic accuracy of 70%, however marked overlap of heterozygotes and NC‐CAH with 11‐OH was found. The short ACTH test proved to be a valuable technique with the further detection of homozygotes ( n = 3) and heterozygotes ( n = 5) in the 13 families studied. However, when interpreting the short ACTH test a careful choice of parameters should be made. It should be kept in mind that mild NC‐CAH patients can only be differentiated from 11OH patients by using Δ17OHP.