A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty
| Autor: | Kremer, H, Martens, Jwm, VAN REEN, M, VERHOEF POST, M, Wit, Jm, Otten, Bj, Drop, Sls, DELEMARRE VAN DE WAAL HA, POMBO ARIAS, M, DE LUCA, Filippo, Potau, N, Buckler, Jmh, Jansen, M, Parks, Js, Latif, Ha, Moll, Gw, Epping, W, Saggese, G, Mariman, Ecm, Themmen, Apn, Brunner, Hg |
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| Rok vydání: | 1999 |
| Předmět: |
Male
Endocrinology Diabetes and Metabolism Biochemistry (medical) Clinical Biochemistry DNA Mutational Analysis Puberty Precocious Luteinizing Hormone Receptors LH Biochemistry Endocrinology Mutation Mechanistische en klinisch genetische aspecten van gonadotropine receptor mutaties Cyclic AMP Humans Amino Acid Sequence Mechanistic and clinical genetic aspects of gonadotropin receptor mutations Child |
| Zdroj: | Journal of Clinical Endocrinology and Metabolism, 84, 3, pp. 1136-1140 Journal of Clinical Endocrinology and Metabolism, 84, 1136-1140 |
| ISSN: | 0021-972X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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