3 research outputs found
Relative quantification of mitochondrial on nuclear DNA copy number (mtDNA/nDNA) in peripheral blood cells.
<p>Total DNA isolated from whole blood has been quantified by real-time quantitative PCR analysis using the RNAse P as an endogenous control. The PCR data were analyzed by using a comparative Ct method <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0042423#pone.0042423-Pfaffl1" target="_blank">[25]</a> and values are here expressed as the Logarithm of mtDNA/nDNA copy number. Mean value for each group is graphically indicated by a line. The grey area is indicating the range observed in the NR group. The significant differences detected by one-way ANOVA test are indicated in the figure (****p<0.0001; **p<0.01).</p
Anagraphical, clinical and biochemical parameters in the four groups of subjects.
a<p>Antral Follicle Count per ovary.</p>*<p><i>p</i><0.03 vs PR and NR.</p>**<p><i>p</i><0.05 vs NR.</p
Table_1_Genetic and phenotypic differences between sexes in congenital hypogonadotropic hypogonadism (CHH): Large cohort analysis from a single tertiary centre.docx
BackgroundCongenital hypogonadotropic hypogonadism (CHH) is a condition with a strong genetic background, caused by a deficient production, secretion, or action of gonadotropin-releasing hormone (GnRH). Published data on CHH cohorts indicate a male predominance, although this is not supported by our current understandings.AimsIn order to unravel the possible causes or contributors to such epidemiological sex difference, the aim of our study is to investigate differences in genetic background and clinical presentation between males and females in a large cohort of CHH patients.Materials and methodsWe enrolled 338 CHH patients with absent or arrested pubertal development, referred to our Center from 01/2016. Data collection included clinical assessment at diagnosis and genetic analysis performed by next generation sequencing (NGS), employing a custom panel of 28 candidate genes.ResultsAmong 338 patients 94 were female (F) and 244 male (M), with a ratio of 1:2.6. We found that 36.09% (122/338) of patients harbored potentially pathogenic rare genetic variants (RVs) with no significant differences between sexes; on the other hand, a significantly higher frequency of oligogenicity was observed in females (F 9,57% 9/94 vs M 3,69% 9/244, P = 0.034). The prevalence of non-reproductive phenotypic features was significantly higher (P = 0.01) in males (53/228, 23.2%) than in females (10/93, 10.8%): in particular, kidney abnormalities affected only male patients and midline defects had a significantly higher prevalence in males (P = 0.010). Finally, BMI SDS was -0.04 ± 1.09 in females and 0.69 ± 1.51 in males, with a statistically significant difference between groups (P = ConclusionOur data confirm the male predominance in CHH and identify some differences with regard to the clinical presentation between males and females that could indicate a variable expression of genetic rare variants and a dimorphic modulation of phenotype according to metabolic/behavioral factors, which will need to be substantiated and investigated by further studies.</p