{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:09:09Z","timestamp":1771002549163,"version":"3.50.1"},"reference-count":14,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Pathol"],"published-print":{"date-parts":[[1990,6]]},"abstract":"<jats:p>Attenuated or partial 21-hydroxylase deficiency is one of several biochemical defects in steroid metabolism that can lead to hirsutism in young women after puberty. The diagnosis is made through the exaggerated response of 17 alpha-hydroxyprogesterone (17-OH) to adrenocorticotrophic hormone (ACTH). To provide reference data 72 mild to moderately hirsute patients aged 18 to 35 were studied (over two years) with the ACTH test. Four patients with an exaggerated response were found. The mean (+\/- 1SD) for zero time was 2.4 (0.96) nmol\/l and for the 60 minute time was 7.2 (2.04) nmol\/l. A subpopulation was found with a significantly higher baseline at 6.2 (1.3) nmol\/l but a blunted 60 minute response at 8.7 (2.5) nmol\/l. This is important because of the potential confusion arising from the known variability in baseline values in previously reported patients with partial 21-hydroxylase deficiency. Extending the test to 90 minutes did not show further increase in the 17-OH response to ACTH, thus confirming the validity of the 60 minutes ACTH test. The cortisol response to ACTH was also studied. One patient with presumptive partial 21-hydroxylase deficiency overlapped in cortisol response with eight of the reference population. Theoretically, a blunted cortisol response would be expected because of the postulated enzyme block, and these results suggest that other steroid enzyme defects should also be considered when an exaggerated 17-OH response to ACTH is seen.<\/jats:p>","DOI":"10.1136\/jcp.43.6.493","type":"journal-article","created":{"date-parts":[[2007,6,9]],"date-time":"2007-06-09T00:50:46Z","timestamp":1181350246000},"page":"493-495","source":"Crossref","is-referenced-by-count":9,"title":["Assessment of the one hour adrenocorticotrophic hormone test in the diagnosis of attenuated 21-hydroxylase deficiency."],"prefix":"10.1136","volume":"43","author":[{"given":"V T","family":"Innanen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J M","family":"Vale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1990,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"143","DOI":"10.7326\/0003-4819-96-2-143","article-title":"Late onset 21-hydroxylase deficiency mimicking idiopathic hirsutism or polycystic ovarian disease","volume":"96","author":"Chrousos, G.P.; Loriaux, D.L.; Mann, D.L.; Cutler, G.B.","year":"1982","unstructured":"Chrousos GP, Loriaux DL, Mann DL, Cutler GB. Late onset 21-hydroxylase deficiency mimicking idiopathic hirsutism or polycystic ovarian disease. Ann Intern Med 1982;96: 143-8.","journal-title":"Ann Intern Med"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1056\/NEJM198507253130404","article-title":"Late-onset adrenal hyperplasia in hirsutism","volume":"313","author":"Kuttenn, F.; Couillin, P.; Girard, F.","year":"1985","unstructured":"Kuttenn F, Couillin P, Girard F, et al. Late-onset adrenal hyperplasia in hirsutism. N Engi J Med 1985;313:224-31.","journal-title":"N Engi J Med"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1210\/jcem-57-2-320","article-title":"Genotyping steroid 21-hydroxylase deficiency: Hormonal reference data","volume":"57","author":"New, M.I.; Lorenzen, F.; Lemer, A.","year":"1983","unstructured":"New MI, Lorenzen F, Lemer A, et al. Genotyping steroid 21-hydroxylase deficiency: Hormonal reference data. 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N Engl J Med 1988;318:1449-57.","journal-title":"N Engl J Med"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1210\/jcem-53-2-394","article-title":"Evidence for reduced 3B-olhydroxysteroid dehydrogenase activity in some hirsute women thought to have polycystic ovary syndrome","volume":"53","author":"Lobo, R.; Goebelsmann, U.","year":"1981","unstructured":"Lobo R, Goebelsmann U. Evidence for reduced 3B-olhydroxysteroid dehydrogenase activity in some hirsute women thought to have polycystic ovary syndrome. J Clin Endocrinol Metab 1981;53:394-400.","journal-title":"J Clin Endocrinol Metab"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1210\/jcem-60-3-428","article-title":"Late-onset adrenal steroid 3B-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and post-pubertal women","volume":"60","author":"Pang, S.; Lerner, A.J.; Stoner, E.","year":"1985","unstructured":"Pang S, Lerner AJ, Stoner E, et al. Late-onset adrenal steroid 3B-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and post-pubertal women. J Clin Endocrinol Metab 1985;60:428-39.","journal-title":"J Clin Endocrinol Metab"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1210\/jcem-57-2-393","article-title":"Evidence for the importance of peripheral tissue events in the development of hirsutism in polycystic ovary syndrome","volume":"57","author":"Lobo, R.; Goebelsmann, U.; Horton, R.","year":"1983","unstructured":"Lobo R, Goebelsmann U, Horton R. Evidence for the importance of peripheral tissue events in the development of hirsutism in polycystic ovary syndrome. J Clin Endocrinol Metab 1983;57:393-7.","journal-title":"J Clin Endocrinol Metab"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1210\/jcem-65-4-597","article-title":"Clinical usefulness of plasma androstanediol glucuronide measurements in women with idiopathic hirsutism","volume":"65","author":"Kirschner, M.A.; Samojlik, E.; Szmal, E.","year":"1987","unstructured":"Kirschner MA, Samojlik E, Szmal E. Clinical usefulness of plasma androstanediol glucuronide measurements in women with idiopathic hirsutism. J Clin Endocrinol Metab 1987;65:597-601.","journal-title":"J Clin Endocrinol Metab"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/0022-4731(84)90382-0","article-title":"Development of plasma 21-deoxycortisol. Radioimmunoassay and applications to the diagnoses of patients with 21-hydroxylase deficiency","volume":"21","author":"Milewicz, A.; Vecsei, P.; Schatz, S.","year":"1984","unstructured":"Milewicz A, Vecsei P, Schatz S, et al. Development of plasma 21-deoxycortisol. Radioimmunoassay and applications to the diagnoses of patients with 21-hydroxylase deficiency. J Steroid Biochem 1984;21:185-91.","journal-title":"J Steroid Biochem"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1056\/NEJM198803033180906","article-title":"Pathogenesis and treatment of polycystic ovary syndrome","volume":"318","author":"McKenna, J.T.","year":"1988","unstructured":"McKenna JT. Pathogenesis and treatment of polycystic ovary syndrome. 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