{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,31]],"date-time":"2022-03-31T15:35:28Z","timestamp":1648740928041},"reference-count":36,"publisher":"The Endocrine Society","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1999,3,1]]},"abstract":"<jats:p>Herein, we report mutation analysis of the LH receptor gene in 17 males with LH-independent precocious puberty, of which 8 were familial and 9 had a negative family history. A total of 7 different mutations (all previously reported) were detected in 12 patients. Among 10 European familial male-limited precocious puberty (FMPP) patients who had a LH receptor gene mutation, none had the Asp578Gly mutation, which is responsible for the vast majority of cases in the U.S. The restricted number of activating mutations of the LH receptor observed in this and other studies of FMPP strongly suggests that an activating phenotype is associated with very specific sites in the receptor protein. Clinical follow-up of the 5 patients who did not have LH receptor mutations shows that such cases most likely do not have true FMPP. LH receptor mutation analysis provides a sensitive tool for distinguishing true FMPP from other causes of early-onset LH-independent puberty in males.<\/jats:p>","DOI":"10.1210\/jcem.84.3.5515","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T17:03:58Z","timestamp":1389200638000},"page":"1136-1140","source":"Crossref","is-referenced-by-count":0,"title":["A Limited Repertoire of Mutations of the Luteinizing Hormone (LH) Receptor Gene in Familial and Sporadic Patients with Male LH-Independent Precocious Puberty1"],"prefix":"10.1210","volume":"84","author":[{"given":"H.","family":"Kremer","sequence":"first","affiliation":[{"name":"Departments of Human Genetics (H.K., M.v.R., E.C.M.M., H.G.B.), 6500 HB Nijmegen, The Netherlands;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. W. M.","family":"Martens","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Reproduction, Erasmus University (J.W.M.M., M.V.-P., A.P.N.T.), 3000 DR Rotterdam, The Netherlands;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"van Reen","sequence":"additional","affiliation":[{"name":"Departments of Human Genetics (H.K., M.v.R., E.C.M.M., H.G.B.), 6500 HB Nijmegen, The Netherlands;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Verhoef-Post","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Reproduction, Erasmus University (J.W.M.M., M.V.-P., A.P.N.T.), 3000 DR Rotterdam, The Netherlands;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. M.","family":"Wit","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital (J.M.W.), Leiden, The Netherlands;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. 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A.","family":"Delemarre-van de Waal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Free University (H.A.D.-v.d.W.), 1081 HV Amsterdam, The Netherlands;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Pombo-Arias","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (M.P.-A.), Hospital General de Galacia 15705 Santiago de Compostella, Spain;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"De Luca","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital (F.D.L.), 90123 Messina, Italy;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Potau","sequence":"additional","affiliation":[{"name":"Hospital Materna-Infantil (N.P.), 08035 Barcelona, Spain;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. M. 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W.","family":"Moll","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Mississippi Medical Center (G.W.M.), Jackson, Mississippi 39216;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Epping","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Dusseldorf (W.E.), 40225 Dusseldorf, Germany;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Saggese","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital Pisa (G.S.), 56125 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. C. M.","family":"Mariman","sequence":"additional","affiliation":[{"name":"Departments of Human Genetics (H.K., M.v.R., E.C.M.M., H.G.B.), 6500 HB Nijmegen, The Netherlands;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. P. 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