{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T00:44:07Z","timestamp":1783385047197,"version":"3.54.6"},"reference-count":33,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[1986,12,4]],"date-time":"1986-12-04T00:00:00Z","timestamp":534038400000},"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":[[1987,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>There is a failure of growth in hypoxanthine guanine phosphoribosyltransferase deficiency; slow weight gain is marked after the second year of age but is apparent in the birth weights of all eight of our patients for whom we have data. However, head growth and bone development are less affected than weight.<\/jats:p><jats:p>A partial defect in the adrenocortical 11\u03b2\u2010hydroxylation of steroids was demonstrated after ACTH stimulation in all four patients studied. This hydroxylation takes place in mitochondria the function of which is modulated by purine nucleotide concentrations; this may be the link with the enzyme defect.<\/jats:p><jats:p>Testicular atrophy at autopsy was found in two pubertal age boys and seven patients aged 12\u201317 years had no signs of puberty. All five boys aged 3\u201311 years showed less than the normal mean response of plasma testosterone concentration to human chorionic gonadotrophin despite the normal histological appearance of the testes of one 6\u2010year\u2010old\u2010boy. Follicle stimulating hormone responses to gonadotrophin releasing hormone are probably less than in normal in at least three of the seven prepubertal boys. The absence of the normally high activities of hypoxanthine guanine phosphoribosyltransferase in testes appears to inhibit their ability to respond to gonadotrophin.<\/jats:p>","DOI":"10.1007\/bf01800063","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:59:49Z","timestamp":1119373189000},"page":"210-223","source":"Crossref","is-referenced-by-count":21,"title":["Lesch\u2010nyhan syndrome: Growth delay, testicular atrophy and a partial failure of the 11\u03b2\u2010hydroxylation of steroids"],"prefix":"10.1002","volume":"10","author":[{"given":"R. W. E.","family":"Watts","sequence":"first","affiliation":[{"name":"Division of Inherited Metabolic Diseases Northwick Park Hospital, MRC Clinical Research Centre  Watford Road Harrow HA1 3UJ UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. 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F.","family":"Taylor","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry Northwick Park Hospital, MRC Clinical Research Centre  Watford Road Harrow HA1 3UJ UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1986,12,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj1600565"},{"key":"e_1_2_1_3_1","first-page":"84","volume-title":"The development, distribution and properties of purine phosphoribosyltranferases in mammals","author":"Adams A.","year":"1973"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-0436.1986.tb00566.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.1980.tb04498.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0149-7634(85)90043-0"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.39.6.627"},{"key":"e_1_2_1_8_1","first-page":"244","article-title":"Inhibin: from concept to reality","volume":"37","author":"Franchimont P.","year":"1979","journal-title":"Vitam. 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