RFamide-related peptide-3 (RFRP-3), the orthologue of avian gonadotrophin-inhibitory hormone, and its receptor GPR147 have been recently identified in the human hypothalamus, and their roles in the regulation of reproductive axis has been studied. The present study aimed to investigate whether the presence of variants in the genes encoding human RFRP-3 (NPVF gene) and its receptor, GPR147 (NPFFR1 gene), is associated with the occurrence of gonadotrophin-releasing hormone-dependent pubertal disorders. Seventy-eight patients with idiopathic central precocious puberty (CPP) and 51 with normosmic isolated hypogonadotrophic hypogonadism (nIHH) were investigated. Fifty healthy subjects comprised the control group. The coding sequences of the NPVF and NPFFR1 genes were amplified and sequenced. Odds ratios (OR) were used to estimate the likelihood of CPP or nIHH in the presence of the described polymorphisms. All such polymorphisms have already been registered in the National Center for Biotechnology Information database. A three-nucleotide in frame deletion was identified in the NPVF gene (p.I71_K72), with a smaller proportion in the CPP (5%) compared to the nIHH (15%) group (P = 0.06). This results in the deletion of the isoleucine at position 71, adjacent to lysine at an endoproteolytic cleavage site of the precursor peptide. This polymorphism was associated with a lower risk of CPP (OR = 0.33; 95% confidence interval = 0.08-0.88); interestingly, only two men with nIHH were homozygotes for this variant. A total of five missense polymorphisms were found in the NPFFR1 gene, which encodes GPR147, with similar frequencies among groups and no association with pubertal timing. Our data suggest that RFRP-3/GPR147 may play secondary, modulatory roles on the regulation of pubertal development; a restraining modulatory effect of the NPVF p.I71_K72 variant on the activation of the gonadotrophic axis cannot be ruled out and deserves further investigation.
Melasma represents a pigmentary disorder that is difficult to treat. This study aims to broadly review the use of ablative lasers (Er:YAG and CO2) in the treatment of melasma, presenting the level of evidence of studies published to date. A total of 75 patients were enrolled in four case series studies (n=39), one controlled clinical trial (n=6) and one randomized controlled clinical trial (n=30). Studies on the Er:YAG laser showed better results with the use of short square-shaped pulses, which determined low rates of post-inflammatory hyperpigmentation and long-lasting maintenance of results. Likewise, studies on the CO2 laser proved the benefits of short pulse duration along with low-density energy. Post-treatment maintenance with the use of antipigmenting creams was necessary and effective to sustain long-term results. Ablative lasers may represent another useful and effective tool against melasma. Postinflammatory hyperpigmentation and difficulty in sustaining long-term results still represent the main limitations to a broader use of ablative lasers. Based on actual evidence, the use of this technology should be restricted to patients with recalcitrant disease. Further studies will help establish optimal laser parameters and treatment regimens.
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