{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T23:32:02Z","timestamp":1769124722524,"version":"3.49.0"},"reference-count":10,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,7]]},"abstract":"<jats:p>A family of male limited gonadotrophin independent precocious puberty was examined for activating mutation of the LH receptor. A transition of A to G in nucleotide 1733 of the human LH receptor gene was identified in all affected males and in an unaffected carrier female. The mutation was shown by identifying a new restriction site created by the mutation. This mutation appears to be a common feature of the disorder, as it has been reported previously in unrelated families. Therefore, the presence of this new restriction site can serve as a diagnostic tool in males at risk before the onset of symptoms, as well as identifying carrier females.<\/jats:p>","DOI":"10.1136\/jmg.32.7.553","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"553-554","source":"Crossref","is-referenced-by-count":38,"title":["Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis)."],"prefix":"10.1136","volume":"32","author":[{"given":"N","family":"Kawate","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G B","family":"Kletter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B E","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M L","family":"Netzloff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K M","family":"Menon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,7,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1056\/NEJM198408233110807","article-title":"Malelimited familial precocious puberty in three generations. Apparent leydig-cell autonomy and elevated glycoprotein hormone alpha subunit","volume":"311","author":"Reiter, E.O.; Brown, R.S.; Longcope, C.; Beitens, I.Z.","year":"1984","unstructured":"Reiter EO, Brown RS, Longcope C, Beitens IZ. Malelimited familial precocious puberty in three generations. Apparent leydig-cell autonomy and elevated glycoprotein hormone alpha subunit. N Engl 7 Med 1984;311:515-19.","journal-title":"N Engl 7 Med"},{"key":"ref_2","article-title":"Familial male sexual precocity: report of the eleventh kindred found, with observations on blood group linkage and urinary","author":"Beas, F.; Zurbrugg, R.P.; Leibow, S.G.; Patton, R.G.; Gardner, L.I.","unstructured":"Beas F, Zurbrugg RP, Leibow SG, Patton RG, Gardner LI. Familial male sexual precocity: report of the eleventh kindred found, with observations on blood group linkage and urinary C1 9 steroid execretion. _7 Clin Endocrinol Metab 1962;22:1095."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1056\/NEJM198501103120201","article-title":"Puberty without gonadotropins: a unique mechanism of sexual development","volume":"312","author":"Wierman, M.E.; Beardsworth, D.E.; Mansfield, J.","year":"1985","unstructured":"Wierman ME, Beardsworth DE, Mansfield J, et al. Puberty without gonadotropins: a unique mechanism of sexual development. N Engl_7 Med 1985; 312:65-72.","journal-title":"N Engl_7 Med"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1056\/NEJM198504183121604","article-title":"Ketokonazole in the management of precocious responsive to LHRH-analogue therapy","volume":"312","author":"Holland, F.J.; Fishman, L.; Bailey, J.D.; Fazekas, A.T.A.","year":"1985","unstructured":"Holland FJ, Fishman L, Bailey JD, Fazekas ATA. Ketokonazole in the management of precocious responsive to LHRH-analogue therapy. N puberty not Engl. Med 1985;312: 1023-8.","journal-title":"N puberty not Engl. Med"},{"key":"ref_5","first-page":"732","article-title":"Role of cyclic AMP in reproductive processes","volume-title":"Fertil Steril","volume":"25","author":"Menon, K.M.J.; Gunaga, K.P.","year":"1974","unstructured":"Menon KMJ, Gunaga KP. Role of cyclic AMP in reproductive processes. Fertil Steril 1974;25:732-50."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1038\/365652a0","article-title":"A constitutively activating mutation of the lutenizing hormone receptor in familial male precocious puberty","volume":"365","author":"Shenker, A.; Larce, L.; Kosugi, S.; JJ, Jr, Merendino; Minegishi, T.; Cutler, G.B.J.","year":"1993","unstructured":"Shenker A, Larce L, Kosugi S, Merendino JJ Jr, Minegishi T, Cutler GBJ. A constitutively activating mutation of the lutenizing hormone receptor in familial male precocious puberty. Nature 1993;365:652.","journal-title":"Nature"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1779","DOI":"10.1093\/hmg\/2.11.1779","article-title":"Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty","volume":"2","author":"Kremer, H.; Mariman, E.; Otten, B.J.","year":"1993","unstructured":"Kremer H, Mariman E, Otten BJ, et al. Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. Hum Mol Genet 1993;2:1779-83.","journal-title":"Hum Mol Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller, S.A.; Dykes, D.D.; Polesky, H.F.","year":"1989","unstructured":"Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1989;16:1215.","journal-title":"Nucleic Acids Res"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1016\/0006-291X(90)91552-4","article-title":"Cloning and sequencing of human LH\/hCG receptor cDNA","volume":"172","author":"Minegishi, T.; Nakamura, K.; Takura, Y.","year":"1990","unstructured":"Minegishi T, Nakamura K, Takura Y, et al. Cloning and sequencing of human LH\/hCG receptor cDNA. Biochem Biophys Res Commun 1990;172:1049.","journal-title":"Biochem Biophys Res Commun"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1016\/0092-8674(93)90609-T","article-title":"Mutations in G protein-linked receptors: novel insights on diseased cell","volume":"75","author":"Clapham, D.E.","year":"1993","unstructured":"Clapham DE. Mutations in G protein-linked receptors: novel insights on diseased cell. Cell 1993;75:1237-9.","journal-title":"Cell"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.32.7.553","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:09:11Z","timestamp":1760735351000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.32.7.553"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,7]]},"references-count":10,"journal-issue":{"issue":"7","published-online":{"date-parts":[[1995,7,1]]},"published-print":{"date-parts":[[1995,7]]}},"alternative-id":["10.1136\/jmg.32.7.553"],"URL":"https:\/\/doi.org\/10.1136\/jmg.32.7.553","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,7]]}}}