Mutations and polymorphism of LH and FSH receptors and sperm quality in men with hypergonadotropic hypogonadism without obvious testicular noxa

Inactivating mutations in the luteinizing hormone (LH) or follicle-stimulating hormone (FSH) receptor (R) are known causes of gonadotrophin resistance. This study was aimed to evaluate the sperm quality in infertile men with hypergonadotropic hypogonadism without obvious testicular pathogenic noxa. The presence of pathogenic mutations and polymorphisms of FSH and LH receptors was investigated. We selected 14 infertile males with elevated levels of FSH and/or LH and normal levels of testosterone. Sperm parameters were analysed following WHO (1999) guidelines and by Transmission Electron Microscopy (TEM). TEM data, mathematically elaborated (Baccetti et al., 1995), provided the percentage of sperm pathologies and the number of structurally normal sperm (fertility index). FSHR and LHR gene mutations have been searched by PCR technique, followed by DHPLC analysis and direct sequencing in all patients and in 40 healthy subjects. The presence of FSHR and LHR mutations and polymorphisms in 14 selected infertile males was associated with an increased percentage of sperm pathologies and a lower fertility index evaluated by TEM.