BACKGROUND: 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. METHODS: We screened 109 patients with cryptorchidism and 250 controls in a Moroccan population. RESULTS: We found that 3 of the 109 patients tested carry the T222P mutation and 4 individuals in the control group also carry the mutation. CONCLUSIONS: Our results show in fact that the same mutation is present in the Moroccan population, but an association between cryptorchidism and the T222P mutation was not found. Copyright 2008 S. Karger AG, Basel.
BACKGROUND: 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 humanINSL3 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. METHODS: We screened 109 patients with cryptorchidism and 250 controls in a Moroccan population. RESULTS: We found that 3 of the 109 patients tested carry the T222P mutation and 4 individuals in the control group also carry the mutation. CONCLUSIONS: Our results show in fact that the same mutation is present in the Moroccan population, but an association between cryptorchidism and the T222P mutation was not found. Copyright 2008 S. Karger AG, Basel.