{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:34:47Z","timestamp":1760729687287},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4754,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on the hypothalamic\u2010pituitary\u2010gonadal function in 2 male infants with the Smith\u2010Lemli\u2010Opitz (SLO or RSH) syndrome. Both infants had abnormal external genitalia. Basal and LHRH stimulated plasma gonadotropins were normal for age (1 month). Plasma testosterone, androstenedione, and dehydroepiandrosterone sulfate were normal for age and sex. Some forms of congenital adrenal hyperplasia (17,20\u2010desmolase deficiency, 17\u03b1\u2010hydroxylase deficiency, and 3\u03b2\u2010hydroxysteroid dehydrogenase deficiency) were ruled out by hormonal studies. The endocrinological findings indicate a normal hypothalamic\u2010pituitary\u2010gonadal function and a normal adrenal steroid biosynthesis in these 2 patients. A partial androgen receptor defect causing the genital malformations seems possible in one patient. Whether 5\u03b1\u2010reductase deficiency is the cause of the male pseudohermaphroditism in SLO syndrome remains the subject of future studies. \u00a9 1992 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320430303","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:42:21Z","timestamp":1118551341000},"page":"513-516","source":"Crossref","is-referenced-by-count":16,"title":["Hypothalamic\u2010pituitary\u2010gonadal function in two infants with Smith\u2010Lemli\u2010Opitz syndrome"],"prefix":"10.1002","volume":"43","author":[{"given":"Rainer","family":"Pankau","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carl\u2010Joachim","family":"Partsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"Funda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang G\u00fcnther","family":"Sippell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280320"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260110"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-47-3-572"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-50-5-826"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb02006.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-55-2-314"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-57-1-32"},{"key":"e_1_2_1_9_1","first-page":"365","article-title":"Plasma testosterone in male puberty. 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