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© Research
Publication : Hormone research

No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Hormone research - 05 Sep 2008

El Houate B, Rouba H, Imken L, Sibai H, Chafik A, Boulouiz R, Chadli E, Hassar M, McElreavey K, Barakat A

Link to Pubmed [PMID] – 18772597

Horm. Res. 2008;70(4):236-9

Cryptorchidism is the most common genital anomaly in men. The INSL3/LGR8 system is involved in testicular descent via gubernacular development. INSL3 binds with high affinity to its receptor LGR8 and receptor activation is associated with cAMP signaling. Analysis of human INSL3 and LGR8 mutations confirms that some cases of cryptorchidism are caused by mutations in these genes. The T222P mutation is the only one within the LGR8 gene associated with the cryptorchidism phenotype. A strong association of the T222P mutation with cryptorchidism was found in an Italian population. Due to the same mutation being found in patients within the Mediterranean area, a possible founder effect of this mutation is supposed.

http://www.ncbi.nlm.nih.gov/pubmed/18772597