Idiopathic infertility in married couples in the light of cytogenetic analysis and sperm penetration assay

We have selected 47 couples with unexplained infertility in order to analyse a possible link between sperm dysfunction studied in males in in vitro conditions and karyotype analysis of somatic cells. In order to identify so called "idiopathically infertile" couples we had to exclude any change in reproductive organs in both partners or in spermiogram which would qualify any of spouses into known category of infertility. We have revealed chromosome aberrations (translocations and marker chromosomes) in 19% of infertile males and in 6% of infertile females. Idiopathically infertile males had an overall decreased ability of sperm function (measured by proportion of penetrated hamster oocytes by human sperm) in comparison to fertile controls, however, still well placed within physiological range of values. Only sperm from a patient with identified translocation was clearly below the normal level of penetration (20% of penetrated oocytes), however, also the patients with revealed chromosome variant polymorphisms presented statistically lower values of penetration in comparison to fertile controls (39% vs 57%, p<0.05). On the contrary, patients with marker chromosomes did not exhibit affected sperm function. It can be speculated that only particular chromosome aberration in group of idiopathically infertile males may affect sperm functional capability (measured in vitro), however, the intragonadal genetic analysis has to be recommended in order to confirm such a causative link.     

Results of cytogenetic examinations in 255 married couples with a history of infertility]

The results of cytogenetic examination carried out in 255 couples with a history of infertility have been analysed. Chromosomal aberrations have been detected in 15 examinations (6.7%) with predominance of translocations (mutual - 3.6%; Robertson' - 1.3%). Identified aberrations have been noted in 9 women and 6 men. The obtained results have been analysed in relation to the number of abortions, dead and live newborn babies with inherited abnormalities. It was found that the incidence of chromosomal aberrations increases with the number of the spontaneous abortions in anamnesis. Such aberrations have also been more frequent in the families in which spontaneous abortions have been accompanied by other fertility disorders.     

Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies

An apparently balanced reciprocal translocation 46,X,t(Y;6) (q11.23 ∼ q12;p11.1) was observed in an infertile man with severe oligozooteratozoospermia. Different mitotic chromosome banding patterns were performed and fluorescence in situ hybridization indicated a breakpoint in the fluorescent Yq heterochromatin. Molecular genetic deletion experiments for the azoospermia factor region in distal Yq11 showed the retention of the DAZ gene and meiotic pairing configurations suggested that the man’s infertility could be due to the pairing behaviour of the Y;6 translocation chromosome with the X chromosome visualised by synaptonemal complex analysis at the electron microscopy level. The morphological appearance of the normal chromosome 6 and the Y;6 translocated chromosome included in the compartment of the sex vesicle may allow an explanation of the degeneration of most spermatocytes after the pachytene stage. Received: 1 August 1997 / Accepted: 25 September 1997     

A cytogenetic study of Kuwaiti couples with infertility and reproductive disorders: short arm deletion of chromosome 21 is associated with male infertility

Chromosomal anomalies may be a reason for both male and female infertility. The aim of this study was to investigate the contribution of chromosomal abnormalities in sterile couples from Kuwait. A total of 118 patients with clinical diagnosis of infertility was analyzed using cytogenetic banding techniques. Common chromosomal abnormalities were detected in 12 patients. We describe here one new case of an infertile male with the karyotype 46,XY, del(21)(pter;q11.2). The overall incidence of 11% abnormality indicates that routine chromosome analysis of infertile couples in Kuwait should be considered before the planning of intracytoplasmic sperm injection.     

X trisomy in an infertile bitch: cytogenetic, anatomic, and histologic studies

Three copies of the X chromosome were identified in a 5-year-old mixed breed infertile bitch. One year after the cytogenetic examination, the bitch died due to gastritis hemorrhagica, an inflammation of the mucus coat of the stomach. Dental studies showed congenital lack of some premolar and molar teeth. Ovaries were of normal shape and size. Also, histologic sections of the ovaries revealed their normal structure, with two corpora lutea and primary follicles. Phenotypic effects of X trisomy are discussed.     

Problems in using basal body temperature recordings in an infertility clinic.

Basal body temperature recordings are extensively used to diagnose and treat infertility, but too great an emphasis on the interpretation of these charts might be counter-productive in managing these patients. Several gynaecologists who use temperature charts clinically were asked to score 60 charts taken from a selection of normal and infertile women, and their results were compared with those obtained by a group of non-experts. Since the full hormonal profiles had been obtained for each of the 60 charts the accuracy of the predictions could be assessed. About 80% of the temperature charts were correctly interpreted by both groups as being either ovulatory or anovulatory but the day of ovulation was predicted correctly for only about 34% of the charts. When the charts were examined retrospectively the thermal nadir was found to coincide with the luteinising hormone surge in 43% of the charts from normal subjects but in only 25% of those from the infertile patients. Predicting the day of ovulation from the temperature recording, particularly in infertile women, is clearly unjustified.     

Chlamydial infection among females attending an abortion clinic: prevalence and risk factors.

To determine the prevalence of Chlamydia trachomatis infection and the epidemiologic risk factors for chlamydial infection in the Quebec City region, screening was done with an enzyme immunoassay in 920 females who attended an abortion clinic between November 1985 and June 1986. The organism was detected in 105 (11.4%) of the patients. After adjustment for confounding variables, four variables were found to be independent risk factors for chlamydial infection: age 24 years or less (prevalence ratio 3.0 [p less than 0.001]), two or more sexual partners during the previous year (prevalence ratio 1.8 [p = 0.001]), no contraception or the use of a nonbarrier method (prevalence ratio 1.9 [p = 0.030]) and living in an urban area (prevalence ratio 1.6 [p = 0.046]). The results confirm that chlamydial infection is prevalent in this population. The identified risk factors may prove useful in determining the target population for screening programs.     

Clinical and cytogenetic studies of two infants with partial monosomy G

Summary Clinical and cytogenetic studies are reported in two infants with a stable ring G chromosome. Identification of the abnormal chromosomes was performed by the G-banding and the Q-banding methods.     

Molecular cytogenetic studies in strepsirrhine primates, dermoptera and scandentia

Since the first chromosome painting study between human and strepsirrhine primates was performed in 1996, nearly 30 species in Strepsirrhini, Dermoptera and Scandentia have been analyzed by cross-species chromosome painting. Here, the contribution of chromosome painting data to our understanding of primate genome organization, chromosome evolution and the karyotype phylogenetic relationships within strepsirrhine primates, Dermoptera and Scandentia is reviewed. Twenty-six to 43 homologous chromosome segments have been revealed in different species with human chromosome-specific paint probes. Various landmark rearrangements characteristic for each different lineage have been identified, as cytogenetic signatures that potentially unite certain lineages within strepsirrhine primates, Dermoptera and Scandentia.     

Oral Candida carriage of patients attending a dental clinic in Braga,Portugal

BackgroundThe ability of the Candida species to colonize surfaces can be considered as a risk factor for oral infection.AimsTo establish oral Candida carriage in patients attending a dental clinic in Braga, Portugal.MethodsA total of 97 patients were analysed. Swab samples were collected and directly cultured onto CHROMagar Candida. Representative yeasts were identified by polymerase chain reaction.ResultsFrom the samples analysed 54.6% (n=53) were Candida positive, and Candida albicans was the most frequently isolated species, accounting for 79% of all the species identified. Non-C. albicans Candida (NCAC) species recovered included Candida parapsilosis, Candida glabrata, Candida tropicalis, and Candida guilliermondii. There was a lack of association between the presence of C. albicans or NCAC species, and age, gender, or prostheses wearing in this population. In 17% of the cases (n=9), polymicrobial cultures, with two different Candida species, were identified.ConclusionsThis study shows a high Candida carriage rate among this population, thus pointing to the relevance of an accurate diagnostic approach in Candida species identification.     

Parvovirus B19 antibodies and correlates of infection in pregnant women attending an antenatal clinic in central Nigeria

Human parvovirus B19 infection is associated with spontaneous abortion, hydrops foetalis, intrauterine foetal death, erythema infectiosum (5th disease), aplastic crisis and acute symmetric polyarthropathy. However, data concerning Nigerian patients with B19 infection have not been published yet. The purpose of this study was to establish the prevalence of B19 IgG and IgM antibodies, including correlates of infection, among pregnant women attending an antenatal clinic in Nigeria. Subsequent to clearance from an ethical committee, blood samples were collected between August-November 2008 from 273 pregnant women between the ages of 15-40 years who have given their informed consent and completed self-administered questionnaires. Recombinant IgG and IgM enzyme linked immunosorbent assay kits (Demeditec Diagnostics, Germany) were used for the assays. Out of the 273 participants, 111 (40.7%) had either IgG or IgM antibodies. Out of these, 75 (27.5%) had IgG antibodies whereas 36 (13.2%) had IgM antibodies, and those aged 36-40 years had the highest prevalence of IgG antibodies. Significant determinants of infection (p < 0.05) included the receipt of a blood transfusion, occupation and the presence of a large number of children in the household. Our findings have important implications for transfusion and foeto-maternal health policy in Nigeria. Routine screening for B19 IgM antibodies and accompanying clinical management of positive cases should be made mandatory for all Nigerian blood donors and women of childbearing age.     

Chlamydia trachomatis serovar distribution and other sexually transmitted coinfections in subjects attending an STD outpatients clinic in Italy

We studied the prevalence of Chlamydia trachomatis (CT) urogenital infection and the distribution of different genotypes in a non-selected STD population of 1625 patients, evaluating presence of coinfections with other sexually transmitted diseases. Each patient was bled to perform serological tests for syphilis and HIV, then urethral or endocervical swabs were obtained for the detection of CT and Neisseria gonorrhoeae by culture. DNA extracted from remnant positive swabs was amplified by omp1 Nested PCR and products were sequenced. Total prevalence of CT infection was 6.3% (103/1625), with strong differences between men and women (11.4% vs 3.9%, P<0.01). Clinical symptoms and coinfections were much more frequent in men than in women (P<0.01). The most common serovar was E (prevalence of 38.8%), followed by G (23.3%), F (13.5%) D/Da (11.6%) and J (4.8%). Serovars distribution was statistically different between men and women (P=0.042) and among patients with or without coinfection (P=0.035); patients infected by serovar D/Da showed the highest coinfection rate. This study can be considered a contribution in increasing knowledge on CT serovar distribution in Italy. Further studies are needed to better define molecular epidemiology of CT infection and to investigate its correlation with other STDs.