Recently, the knowledge of the genetic basis of fertility disorders has expanded enormously, mainly thanks to the use of next-generation sequencing (NGS). However, the genetic cause of infertility, in Show more
Recently, the knowledge of the genetic basis of fertility disorders has expanded enormously, mainly thanks to the use of next-generation sequencing (NGS). However, the genetic cause of infertility, in the majority of patients, is still undefined. The aim was to identify novel and recurrent pathogenic/likely pathogenic variants in patients with isolated infertility or puberty delay using a targeted NGS technique. We have enrolled 41 patients (36 males and 5 females) with infertility problems or delayed puberty. We included the patients with hypogonadotropic hypogonadism (n = 12), hypergonadotropic hypogonadism (n = 15), abnormal sperm parameters (n = 10), androgen insensitivity syndrome (n = 3) and 46,XY gonadal dysgenesis (n = 1). Genetic tests were performed using targeted NGS panel of 35 genes implicated in fertility. Pathogenic or likely pathogenic variants potentially explaining the clinical phenotype were identified in 12 of 41 patients (29%). These included 9 of 12 patients (75%) with hypogonadotropic hypogonadism, 2 of 3 patients (66%) with androgen insensitivity syndrome, and the single patient with 46,XY gonadal dysgenesis. Among the 18 identified variants, 4 were novel (FGF8:p.Ala147Thr; SEMA3A:p.Arg544Cys; FGFR1:p.Thr141IlefsTer10; NSMF: p.Tyr242Cys), while 14 were recurrent. Our study expands the knowledge of the genetic basis of the infertility disorders and highlights the importance of genetic testing for proper diagnosis making and genetic counselling. Show less
The aim of the study was to evaluate the reliability of self-reported smoking status and environmental tobacco smoke exposure (ETS) during pregnancy, assessing serum cotinine level. The prospective co Show more
The aim of the study was to evaluate the reliability of self-reported smoking status and environmental tobacco smoke exposure (ETS) during pregnancy, assessing serum cotinine level. The prospective cohort study was conducted in 2 antenatal care units in Lodz, Poland. Study population consisted of 183 pregnant women between 20-24 weeks of pregnancy. All of the women who agreed to participate in the study were interviewed to investigate certain socio-demographic, lifestyles, behavioural characteristics and obstetric background. Self-reported smoking status and ETS exposure were verified with the help of serum cotinine level. Cotinine level was analyzed by means of gas chromatography with mass spectroscopy (GC-MS). We choose more than 15 ng/ml as serum cotinine level for smokers, 2-15 ng/ml for ETS exposure and less than 2 ng/ml for non-smokers not exposed to ETS. Among non-smoking and not ETS-exposed women, 17% had cotinine level indicating active smoking and 74% ETS exposure. About 4% of the women who indicated ETS exposure during pregnancy had serum cotinine level higher than 15 ng/ml indicating active smoking. The information about active and passive smoking during pregnancy obtained from mothers and based on the questionnaire does not indicate objective maternal exposure to tobacco smoke. Show less