Two mutations in one sporadic HH case were found in screening of GNRHR gene in thirty one HH patients.
In the current investigation, two mutations in GNRHR were found in one sporadic case.
In a similar study, three different heterozygous GNRHR mutations among 146 subjects with delayed puberty were reported.
In the present study, the GNRHR mutation Ser34Phe was identified in a 16 years old boy, who had low FSH, LH and T concentrations and retractile testes and genitalia.
Therefore, this aspect of the regulation of GNRHR remains to be determined by conducting phosphorylation studies and its possible effect on the cellular signaling.
A large-scale screening has shown that GNRHR mutations account for about 3.
The current literature indicates the presence of twenty one different mutations in GNRHR (Noel and Kaiser, 2011).
Primers designed for the exons of GNRH1 and GNRHR genes are shown in Tables I and II.
The probable genetic mutations in the GNRH1 and GNRHR were determined by Sanger Sequencing.
The substitution of serine with phenylalanine, Ser34Phe might have disrupted the GNRHR function and caused low gonadotropins secretion and resulted in HH.
The sequence analysis demonstrated that protein serine 34 in GNRHR is highly conserved among different species and any alteration may result in altered structure and protein function (Table IV).
In the current study, two novel mutations in GNRHR were found in one sporadic case.