title: Congenital adrenal hyperplasia family studies using the short ACTH test.
abstract: 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 overlaps basally with the milder non-classical 21-hydroxylase deficiency [NC-CAH]). Stimulated 17-hydroxyprogesterone level (17OHP30), 17-hydroxyprogesterone increase (delta 17 OHP) and the ratio 17-hydroxyprogesterone increase to cortisol increase (delta 17OHP/delta cortisol) were the parameters from the short ACTH test derived for assessment. 17-OHP30 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 delta 17OHP. The heterozygotes showed best differentiation from the controls using delta 17OHP/delta cortisol 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 delta 17OHP.
authors.affiliation: Ray Williams Institute of Paediatric Endocrinology, Diabetes and Metabolism, Children's Hospital, Camperdown, New South Wales, Australia.
authors.forename: D J
authors.initials: DJ
authors.lastname: Kreutzmann
authors.forename: C T
authors.initials: CT
authors.lastname: Cowell
authors.forename: N J
authors.initials: NJ
authors.lastname: Howard
authors.forename: M
authors.initials: M
authors.lastname: De Souza
authors.forename: M
authors.initials: M
authors.lastname: Silink
mesh_terms: D019326:17-alpha-Hydroxyprogesterone; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003366:Cosyntropin / Q000097:blood*; D005260:Female; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010375:Pedigree
chemical_list: D006908:Hydroxyprogesterones; D003366:Cosyntropin; D019326:17-alpha-Hydroxyprogesterone