Article
A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty.
The Journal of clinical endocrinology and metabolism - 1 Mar 1999
Kremer H, Martens J W, van Reen M, Verhoef-Post M, Wit J M, Otten B J, Drop S L, Delemarre-van de Waal H A, Pombo-Arias M, De Luca F, Potau N, Buckler J M, Jansen M, Parks J S, Latif H A, Moll G W, Epping W, Saggese G, Mariman E C, Themmen A P, Brunner H G
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.