{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T05:10:09Z","timestamp":1694927409418},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[1978,7,10]],"date-time":"1978-07-10T00:00:00Z","timestamp":268876800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1979,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A deficiency of neutral 17\u03b2\u2010hydroxysteroid oxidoreductase activity in tests has been diagnosed in an infant with male pseudohermaphroditism.<jats:italic>In vivo<\/jats:italic> stimulation tests of testicular endocrine function with human chorionic gonadotrophin provided an accurate diagnosis in contrast to estimates of enzymic activity<jats:italic>in vitro<\/jats:italic> in testes and other tissues. The discrepancy in testes may be due to the absence of gonadotrophin stimulation in the latter studies. The<jats:italic>in vitro<\/jats:italic> studies show that there are at least two forms of 17\u03b2\u2010hydroxysteroid oxidoreductase under independent genetic control and that only one form is localized to the testes. The diagnosis before puberty has allowed early treatment by removal of the abnormal testes which should prevent the usual presenting clinical signs of marked masculinization and hirsutism at puberty.<\/jats:p>","DOI":"10.1007\/bf01801718","type":"journal-article","created":{"date-parts":[[2005,6,27]],"date-time":"2005-06-27T23:52:57Z","timestamp":1119916377000},"page":"51-54","source":"Crossref","is-referenced-by-count":7,"title":["Neutral 17\u03b2\u2010hydroxysteroid oxidoreductase deficiency in testes causing male pseudohermaphroditism in an infant"],"prefix":"10.1002","volume":"2","author":[{"given":"R. A.","family":"Harkness","sequence":"first","affiliation":[{"name":"Departments of Child Life and Health and Paediatric Biochemistry University of Edinburgh  UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Thistlethwaite","sequence":"additional","affiliation":[{"name":"Departments of Child Life and Health and Paediatric Biochemistry University of Edinburgh  UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. A. B.","family":"Darling","sequence":"additional","affiliation":[{"name":"Departments of Child Life and Health and Paediatric Biochemistry University of Edinburgh  UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. E.","family":"Skakkebaek","sequence":"additional","affiliation":[{"name":"MRC Reproductive Biology Unit  Edinburgh UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. S.","family":"Corker","sequence":"additional","affiliation":[{"name":"MRC Reproductive Biology Unit  Edinburgh UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1978,7,10]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1977.tb01336.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-36-6-1132"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-37-1-148"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1530\/acta.0.0790192"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197410312911805"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-36-5-867"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/endo-94-1-1"},{"key":"e_1_2_1_9_1","first-page":"16","article-title":"17\u03b2\u2010Hydroxysteroid oxidoreductase deficiency causing male pseudohermaphroditism in a child","volume":"67","author":"Harkness R. A.","year":"1975","journal-title":"J. Endocrinol."},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj0990717"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01468725"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1530\/acta.0.0850624"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1677\/joe.0.0590637"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1210\/endo-87-5-864"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI106942"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.50.4.291"},{"key":"e_1_2_1_17_1","first-page":"461","article-title":"Pseudohermaphrodisme male familial par deficit testiculaire en 17\u2010cetosteroid\u2010reductase","volume":"34","author":"Tournaire J.","year":"1973","journal-title":"Ann. Endocrinol."},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1530\/acta.0.0580419"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1530\/acta.0.0870212"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01801718","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01801718","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T23:43:10Z","timestamp":1694907790000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01801718"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,7,10]]},"references-count":18,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1979,9]]}},"alternative-id":["10.1007\/BF01801718"],"URL":"https:\/\/doi.org\/10.1007\/bf01801718","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1978,7,10]]}}}