Aberrant transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II |
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| Authors: | Nina Kossack,Britta Troppmann,Annette Richter-Unruh,Gunnar Kleinau,Jö rg Gromoll |
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| Affiliation: | 1. Centre of Reproductive Medicine and Andrology, Albert-Schweitzer-Campus 1, 48149 Muenster, Germany;2. Endokrinologikum Ruhr, Zentrum für Hormon- und Stoffwechselerkrankungen, Alter Markt 4, 44866 Bochum, Germany;3. Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany |
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| Abstract: | The luteinizing hormone/chorionic gonadotropin receptor (LHCGR) is essential for normal male sex differentiation. Recently, the additional primate-specific exon 6A of the LHCGR was discovered and it was shown to act as regulatory element at the transcriptional level. |
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| Keywords: | Luteinizing hormone receptor Leydig cell hypoplasia Micropenis Male sex differentiation |
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