File:Leydig cells stained for LHCGR1.jpg

Leydig Cells

Labelled for luteinizing hormone/chorionic gonadotropin receptor (LHCGR).

Mutation in this receptor can cause Leydig cell hypoplasia (LCH).

Leydig cell hypoplasia, (LCH) is an autosomal recessive disorder in individuals with a 46,XY karyotype who have a predominantly female phenotype (blind-ending vagina, absence of breast development, primary amenorrhea, presence of testicular structures) that is with gonads of one sex, external genitalia of opposite. One cause has been recently identified as the presence of a cryptic exon in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene.

Bar indicates 100 μM

Links: Testis Development | Endocrine - Gonad

Reference

<pubmed>18433292</pubmed>

Kossack N, Simoni M, Richter-Unruh A, Themmen APN, Gromoll J (2008) Mutations in a Novel, Cryptic Exon of the Luteinizing Hormone/Chorionic Gonadotropin Receptor Gene Cause Male Pseudohermaphroditism. PLoS Med 5(4): e88. doi:10.1371/journal.pmed.0050088

Copyright

© 2008 Kossack et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Modified from PLOS - Kossack N, etal., 2008