ABSTRACT

Aim:

The aetiology of Idiopathic Hypogonadotropic Hypogonadism (IHH) has not been clearly understood. Gonadotropin Releasing Hormone (GnRH) is the major regulator of pituitary gonadotrophins (FSH and LH). GnRH secretion is regulated by some hormonal factors coming from other parts of hypotalamus and some other areas. One of the factors regulating GnRH secretion is kisspeptin. Recently, some studies have shown that kisspeptin mutations may have a role at the aetiology of IHH. In our study, we have measured the frequency of inactivating KISS1 mutation at the male IHH patients.

Material and Methods:

In this study, we have included 50 male IHH patients. Using the DNA samples gathered by genomic DNA extraction technique from the lymphocyte and granulocyte of the blood samples of IHH patients, we have proliferated the 3. exon region of the gene by PCR technique to detect KISS1 mutations with reverse and forward primers. The mutation analyses have been made with sequence analysis.

Results:

We have not detected an nucleotid differantiation (KISS1 Inactivating Mutation) after reverse and forward reading of 3. Exon region of the KISS1 gene that contains the mutation the at the 50 patients in our study group.

Conclusion:

This mutation that has been identified at female IHH, has not been detected in our male IHH study group. It can be concluded that this finding is because of the the rarity of this spesific mutation. We think that new and more expanded studies should be build for clearly identifying the molecular causes of IHH.