Novel FAM126A mutations in hypomyelination and congenital cataract disease.

Hypomyelination and congenital cataract (HCC, OMIM #610532) is a rare autosomal recessive disorder due to FAM126A mutations characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in the central and peripheral nervous system. We have identified two novel mutations in three affected members of two unrelated families. Two sibs harbouring a microdeletion causing a premature stop in the protein showed the classical clinical and neuroradiologic HCC picture. The third patient carrying a missense mutation showed a relatively mild clinical picture without peripheral neuropathy. A residual amount of hyccin protein in primary fibroblasts was demonstrated by functional studies indicating that missense mutations are likely to have less detrimental effects if compared with splice-site mutations or deletions that cause the full-blown HCC phenotype, including peripheral nervous system involvement.

In vitro effect of Escherichia coli on human sperm acrosome reaction.

Escherichia coli are known to reduce human sperm motility. The purpose of the present study was to examine whether these bacteria may also affect the acrosome reaction, which is another important sperm function. The acrosome reaction was determined in spermatozoa from 29 fertile men by triple stain after 3-h incubation at 37 degrees C with 2 x 10(6) E. coli/mL or without bacteria (control). Each sample was treated with 0.1% DMSO (spontaneous acrosome reaction) or calcium ionophore A23187 (induced acrosome reaction) for 1 h at 37 degrees C. The inducibility of the acrosome reaction was significantly lower in semen samples pretreated with E. coli than in the control samples (9.8 +/- 4.2% vs. 12.7 +/- 5.3%; p < .05). The results demonstrate that E. coli affect the inducibility of the acrosome reaction in vitro and may impair the fertilizing capacity of human spermatozoa.

The effect of smoking and varicocele on human sperm acrosin activity and acrosome reaction.

Smoking and varicocele are frequent findings in the medical history and physical examination of patients attending andrological outpatient departments. However, data about their influence on human semen parameters, such as sperm concentration and motility, are contradictory. Therefore, the purpose of this study was to examine sperm function (acrosin activity and induction of the acrosome reaction) in smokers (n = 30) and varicocele patients (n = 30) compared with normal fertile donors (n = 20). The acrosome reaction was detected by triple staining after 3 h of incubation at 37 degrees C, followed by treatment with 0.1% dimethylsulphoxide (spontaneous acrosome reaction) and 10 microM calcium ionophore A23187 (induced acrosome reaction) for 1 h at 37 degrees C. Acrosin activity was measured by gelatinolysis. The diameters around the sperm heads after gelatinolysis and the percentages of spermatozoa showing halo formations were evaluated. The inducibility of the acrosome reaction was significantly lower in semen samples from smokers than in those from the fertile group (7.1 +/- 3.2 versus 11.2 +/- 4.0%, P < 0.01), whereas no statistically significant difference was demonstrated in spermatozoa from patients with varicocele (9.3 +/- 4.3%). Both the percentages of spermatozoa with halo formation (53.3 +/- 20.0 versus 76.6 +/- 13.6%, P < 0.05) and the halo diameters (16.1 +/- 6.6 versus 31.0 +/- 14.5 microns, P < 0.001) were significantly lower in the varicocele group than in the samples from fertile men. These data suggest that smoking and varicocele affect sperm function, and that the standard semen parameters alone are insufficient to evaluate the influence of both factors on human male fertility.

Cytogenetic study in idiopathic infertile males.

Sex chromatin investigations, including X-chromatin and Y-chromatin, was carried out on one hundred idiopathic infertile males with marked oligospermia or azoospermia. Seven cases (7%) were X-chromatin positive, 18% of the cases had aberrant Y-body (10% big Y, 7% small Y and 1% double Y). Such Y-chromosome abnormalities were frequent among azoospermic than oligospermic males. Chromosomal analysis of patients with positive X-chromatin and/or abnormalities of the Y-chromosome showed chromosomal abnormalities in the seven azoospermic cases (7%) which were X-chromatin positive. These chromosomal abnormalities are varieties of mosaic Klinefelter. Six patients (6%) were 46,XY/47,XXY mosaic and one patient (1%) was 46, XY/47,XXY/48,XXYY mosaic. In conclusion, chromosome analysis as well as sex-chromatin analysis is thus necessary in the investigation of male infertility.

Hyperprolactinemia and impotence.

One hundred impotent men and 15 sexually active male volunteers served as the source for this study. Serum prolactin was estimated in all cases using radioimmunoassay technique. Cases with hyperprolactinemia were treated with bromocriptine for 3 months. Hyperprolactinemia was detected in three patients only (3%), with no findings of pituitary tumors. Treatment with bromocriptine markedly reduced the level of serum prolactin together with improvement of sexual libido and potency. The mere presence of 3 cases only with hyperprolactinemia among 100 impotent subjects suggested that hyperprolactinemia is not one of the main causes of impotence.

Niridazole and fertility in bilharzial men.

The antispermatogenic effect of niridazole was studied in 20 bilharzialmale patients. Niridazole was found to induce defective spermatogenesis in the form of focal spermatocyte arrest and or germinal cell hypoplasia. The effect was transient, with active recovery occurring 3 months after therapy. Niridazole therapy must be postponed or changed for those subjects whose semen parameters prove to be subfertile.

The leprous testis.

A clinical investigative study of 148 male leprous patients demonstrated the presence of testicular lesions in 35 cases. Semen analysis revealed marked oligo-athenozoospermia in 10 cases and azoospermia in 25 cases. Testicular biopsies from leprous testes showed different histologic patterns ranging from spermatogenic arrest to complete hyalinization of both seminiferous tubules and interstitial tissue. Histochemical staining for neurovascular supply revealed degenerative nerve change in addition to altered permeability of the testicular capillaries. There was good correlation between the results of semen analysis and histological and histochemical examination of testicular biopsies.

Methotrexate and fertility in men.

The possible deleterious effects of folic acid antagonist methotrexate on the fertility potential have been investigated in 26 male psoriatic patients. Examination for semen, testicular histology, and spermatogenic function using radioactive phosphorus revealed that methotrexate had no unfavorable effect on male fertility. A long follow up of the patients and their offspring is needed to exclude the possible teratogenic effect of the drug.

Radiozinc spermatogenesis test: follow-up semen analysis.

PIP: Semen analysis was performed on 8 men, every 2 months, for a period of 8 months, after the application of the radiozinc spermatogensis test. Semen was examined for volume, cell count, motility, and abnormal forms. Results showed no evidence of any changes in semen parameters. Student's test was used to compare the data before the test with the data after the test, and no significant differences were seen. The radiozinc spermatogensis test seems safe, from a radiologic point of view, does not have an adverse effect on semen, and unlike testicular biopsy, saves the patient from surgical exposure. The radiozinc spermatogensis test can be applied as an important adjuvant measure in the diagnosis and prognosis of male infertility.^ieng