Endocrine Abstracts

Introduction: To date, several mutations have been identified as the underlying cause of hypogonadotropic hypogonadism. However, they account for a small minority of cases, suggesting that other genes play a significant role in the pathogenesis. The aim of the present study was to examine the prevalence of KAL1, GnRH1, GnRHR, PROK2 and PROKR2 mutations. Because it has several advantages over traditional screening methods, multiplex ligation dependent probe amplification (MLPA)...