{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T08:50:53Z","timestamp":1762505453992},"reference-count":6,"publisher":"Oxford University Press (OUP)","issue":"795","license":[{"start":{"date-parts":[[1992,1,1]],"date-time":"1992-01-01T00:00:00Z","timestamp":694224000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1992,1,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>A phenotypic female presented initially at the age of 17 years with amenorrhoea and delay of sexual development. Karyotype was male, 46 XY, and as gonads were absent, a diagnosis of congenital anorchia was made. The patient was treated with oestrogen.<\/jats:p><jats:p>At the age of 23 years, she re-presented with tall stature and hypertension. She then had normal female habitus but absent pubic and axillary hair. Re-investigation showed that sex steroids and cortisol were absent and established the diagnosis as 17 \u03b1-hydroxylase deficiency. Treatment with hydrocortisone rapidly corrected the hypertension. Ultrasound examination confirmed the absence of gonads but showed that a small uterus was present.<\/jats:p><jats:p>Measurement of serum cortisol is important for recognition of such patients, but further measurements of sex steroids, particularly progesterone, are needed to prove the diagnosis.<\/jats:p><jats:p>We have found no previous reports of absent gonads in 17 \u03b1-hydroxylase deficiency. The association remains unexplained.<\/jats:p>","DOI":"10.1136\/pgmj.68.795.59","type":"journal-article","created":{"date-parts":[[2008,12,29]],"date-time":"2008-12-29T21:01:03Z","timestamp":1230584463000},"page":"59-61","source":"Crossref","is-referenced-by-count":2,"title":["Deficiency of 17 \u03b1-hydroxylase associated with absent gonads"],"prefix":"10.1093","volume":"68","author":[{"given":"P N","family":"Malcolm","sequence":"first","affiliation":[{"name":"Departments of Endocrinology, Northwick Park Hospital , Watford Road, Harrow, Middlesex HA1 3UJ, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D J","family":"Wright","sequence":"additional","affiliation":[{"name":"Departments of Clinical Chemistry, Northwick Park Hospital , Watford Road, Harrow, Middlesex HA1 3UJ, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C J","family":"Edmonds","sequence":"additional","affiliation":[{"name":"Departments of Endocrinology, Northwick Park Hospital , Watford Road, Harrow, Middlesex HA1 3UJ, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[1992,1,1]]},"reference":[{"issue":"17","key":"ref_1","first-page":"339","article-title":"Disorders of gonadal differentiation and congenital adrenal hyperplasia","volume":"1988","author":"New, M.I.; Josso, N.","unstructured":"New, M.I. & Josso, N. Disorders of gonadal differentiation and congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 1988, 17: 339-366.","journal-title":"Endocrinol Metab Clin North Am"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1111\/j.0954-6820.1973.tb10629.x","article-title":"Primary amenorrhoea with hypertension due to 17-hydroxylase deficiency","volume":"193","author":"De Lange, W.E.; Weeke, A.; Artz, W.; Jansen, W.; Doorenbos, H.","year":"1973","unstructured":"De Lange, W.E., Weeke, A., Artz, W., Jansen, W. & Doorenbos, H. Primary amenorrhoea with hypertension due to 17-hydroxylase deficiency. Acta Med Scand 1973, 193: 565-571.","journal-title":"Acta Med Scand"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1930","DOI":"10.1172\/JCI106412","article-title":"Male pseudohermaphroditism due to 17ahydroxylase deficiency","volume":"49","author":"New, M.I.","year":"1970","unstructured":"New, M.I. Male pseudohermaphroditism due to 17ahydroxylase deficiency. J Clin Invest 1970, 49: 1930-1941.","journal-title":"J Clin Invest"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1007\/BF00291172","article-title":"Identification of a common molecular basis for combined 17 alpha-hydroxylase\/17,20 lyase deficiency in two families","volume":"82","author":"Kagimoto, K.; Waterman, M.R.; Kagimoto, M.; Ferreira, P.; Simpson, E.R.; Winter, J.S.D.","year":"1989","unstructured":"Kagimoto, K., Waterman, M.R., Kagimoto, M., Ferreira, P., Simpson, E.R. & Winter, J.S.D. Identification of a common molecular basis for combined 17 alpha-hydroxylase\/17,20 lyase deficiency in two families. Hum Gen 1989, 82: 285-286.","journal-title":"Hum Gen"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1210\/jcem-70-5-1325","article-title":"Combined 17a-hydroxylase\/17,20lyase deficiency due to a 7-basepair duplication in the N-terminal region ofthe cytochrome P45017","volume":"70","author":"Yanase, T.; Sanders, D.; Shibata, A.; Matsui, N.; Simpson, E.R.; Waterman, M.R.","year":"1990","unstructured":"Yanase, T., Sanders, D., Shibata, A., Matsui, N., Simpson, E.R. & Waterman, M.R. Combined 17a-hydroxylase\/17,20lyase deficiency due to a 7-basepair duplication in the N-terminal region ofthe cytochrome P45017. (CYP 17) gene. J Clin Endocrinol Metab 1990, 70: 1325-1329.","journal-title":"J Clin Endocrinol Metab"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1111\/j.1471-0528.1980.tb04491.x","article-title":"Male pseudohermaphroditism with 17a-hydroxylase deficiency","volume":"87","author":"Abad, L.; Parrilla, T.T.; Marcos, T.; Gimero, F.; Bemal, A.L.","year":"1980","unstructured":"Abad, L., Parrilla, T.T., Marcos, T., Gimero, F. & Bemal, A.L. Male pseudohermaphroditism with 17a-hydroxylase deficiency. Br J Obstet Gynaecol 1980, 87: 1162-1165.","journal-title":"Br J Obstet Gynaecol"}],"container-title":["Postgraduate Medical Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/pmj\/article-pdf\/68\/795\/59\/50073939\/postgradmedj-68-59.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/pmj\/article-pdf\/68\/795\/59\/50073939\/postgradmedj-68-59.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,8]],"date-time":"2024-03-08T03:07:55Z","timestamp":1709867275000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/pmj\/article\/68\/795\/59\/7062318"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,1,1]]},"references-count":6,"journal-issue":{"issue":"795","published-online":{"date-parts":[[1992,1,1]]},"published-print":{"date-parts":[[1992,1,1]]}},"URL":"https:\/\/doi.org\/10.1136\/pgmj.68.795.59","relation":{},"ISSN":["0032-5473","1469-0756"],"issn-type":[{"value":"0032-5473","type":"print"},{"value":"1469-0756","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[1992,1]]},"published":{"date-parts":[[1992,1,1]]}}}