Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P56851 (epididymal)
 11,273 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two siblings with 46,XY male pseudohermapthroditism were demonstrated to have the phenotype characteristic of 5 alpha-reductase deficiency, namely normal testes and male Wolffian duct derivatives (epididymis, vas deferens, and seminal vesicle) terminating in a blind-ending vagina. Clitoromegaly was present at birth and increased further at the time of expected puberty. The diagnosis of 5 alpha-reductase deficiency was confirmed by demonstration of male levels of testosterone and testosterone precursors before and after hCG administration, elevated plasma testosterone to dihydrotestosterone and urinary etiocholanolone to androsterone ratios, and by in vitro studies indicating 5 alpha-reductase enzyme deficiency in the epididymis of one patient. Studies of control and mutant epididymal microsomes indicated that a single enzyme is responsible in the normal person for the 5 alpha-reduction of testosterone and cortisol (and probably other delta 4-3-ketosteroids as well) and that 5 alpha-reductase activity is undetectable for all substrates examined in the mutant. This finding explains why the formation of 5 alpha-reduced glucocorticoids is also defective in the disorder.
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PMID:Clinical, endocrinological, and enzymatic characterization of two patients with 5 alpha-reductase deficiency: evidence that a single enzyme is responsible for the 5 alpha-reduction of cortisol and testosterone. 26 18

The original study conducted 22 years earlier at the Chicago Lying-in Hospital attempted to determine the value of diethylstilbestrol (DES) in maintaining pregnancy. The number completing the course of therapy was 840 in the DES group; there were 860 in a control group. Increasing doses were given beginning during the 7th week of pregnancy. The present study was to determine the level of risk of cancer and other anomalies in the female and male offspring of mothers who participated in the study. So far, 84 DES-exposed females, 43 female controls, 43 DES-exposed males, and 37 male controls have been examined. No cases of cancer have been found. The average age was 22 years. For female patients the medical history, a general physical examination, a gynecological examination, a colposcopic study, and laboratory tests were made. Laboratory tests consisted of cervical, endocervical, and 4 vaginal wall Pap smears, urine cytology, and follicle stimulating hormone and luteinizing hormone determinations. Biopsies were performed when indicated. Progesterone and total estrogens were determined only in patients with irregular menstrual cycles. In male patients, a general physical examination, urologic studies, and laboratory work-up were done. Medical records of all the newborn infants were surveyed and pediatric records examined. No cases of congenital malformations were recorded. Minor differences in menstrual histories and in ability to conceive were noted. The differences appeared mainly at vaginal examinations. Circumferential ridges in the vagina and cervix were seen in 39% of the exposed females but in none of the controls. Erythroplakia of the cervix was seen in 67% of the exposed and in 53% of the controls. Colposcopic findings in the vagina revealed vaginal epithelial changes in 78% of the DES-exposed females and 2% of female controls. Iodine negative areas in the vagina were noted in 78% of the exposed females compared with 2% of the unexposed females. Iodine negative areas on the cervix were seen in 74% of the exposed and 58% of the unexposed. All dysplastic lesions were confirmed by histology. The cytology was negative in all. In the males abnormal findings were noted mainly in the DES-exposed group. An undersized penis was noted in 2, small testes in 2, varicocele in 1, and epididymal cysts in 4. Urine cy tology and prostatic fluid cytology did not reveal unusual findings. A more detailed analysis of findings will follow when material is larger and older.
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PMID:Follow-up study of male and female offspring of DES-treated mothers a preliminary report. 117 Dec 34

Unlike those of many mammals, rat and hamster spermatozoa do not appear to be fully activated at ejaculation. Most rat spermatozoa transported en masse to the uterus approximately 2 minutes after coitus were vigorously motile on recovery soon thereafter in uterine fluid, whereas a majority, and sometimes all, were immotile in samples collected less than 2 minutes after coitus from the anterior vagina of normal females and up to 15 minutes after coitus from the anterior vagina in females with obstructed cervices. Many of these immotile rat vaginal spermatozoa began instant vigorous movement upon exposure to Tyrode's solution or uterine fluid. Hamster spermatozoa recovered from the vagina about 2 minutes after coitus were also immotile or displayed only slow, languid serpentine movements, but that motility profile remained very similar in spermatozoa taken 0.5 hours to 6 hours after coitus from the uterus, which is essentially fluid-free in the hamster. In the hamster, actively motile spermatozoa were evident only in the isthmus of the (transilluminated) oviduct. As in the rat, immotile vaginal and uterine hamster spermatozoa instantly began vigorous progressive motility in vitro on contact with Tyrode's solution or rat uterine fluid. Immotile spermatozoa from the rat and hamster cauda epididymidis immediately became highly motile in Tyrode's solution, and they developed a somewhat less rapid flagellar beat in 150 mmol/L NaCl or KCl, with or without 2 mmol/L CaCl2. In contrast, dilution with an isotonic sucrose solution containing no ions, or only 2 mmol/L CaCl2, evoked very slow and transient movement of rat and hamster epididymal sperm tails.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Initiation of sperm motility after mating in the rat and hamster. 142 20

An autosomal recessive mutation (ipv) causing infertility in homozygous females (ipv/ipv) because of imperforate vaginae was discovered in a line of mice selected for low lean tissue mass as a proportion of body weight. The aim of this study was to determine if the mutation could be propagated in offspring following embryo transfer of oocytes collected from mutant females and fertilized in vitro with sperm from males known to carry the gene (ipv/?). Caudal epididymal sperm were incubated with cumulus-enclosed oocytes for 8-10 hr in tissue culture medium 199 + 5% fetal calf serum + 0.4% bovine serum albumin. Oocytes possessing at least two pronuclei were transferred to recipient CD-1 females which had been mated 24 hr earlier to vasectomized males. A total of 683 oocytes was collected from 27 superovulated mutant females. A large proportion of the oocytes was abnormal as evidenced by cytoplasmic fragmentation (259/683, 38%). Seventy-eight percent (331/424) of the normal oocytes were fertilized and 181 of these were transferred to 10 recipients. Six of 10 recipients delivered 38 offspring (24 females, 14 males). Fifty-eight percent (14/24) of the female offspring displayed an imperforate vagina. The results demonstrate that in vitro fertilization and embryo transfer can be used for propagating a mutant gene that causes infertility in females.
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PMID:Use of in vitro fertilization and embryo transfer to circumvent infertility caused by an inherited imperforate vagina in mice. 191 65

To investigate the contribution of the rat copulatory plug (RCP) to fertilization we evaluated the following: 1) its role as a reservoir for spermatozoa, 2) its role in the prevention of the outflow of spermatozoa from the vagina, and 3) its importance in the process of the sperm into the uterus. Artificial inseminations with either fresh RCP or epididymal spermatozoal solutions or the postcoital removal of the RCP was performed in normal female rats in estrus and in pseudopregnant rats (following relaxation of the cervix by faradic stimulation). The pregnancy rates in the different groups indicated that only the third mechanism was important.
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PMID:The role of rat copulatory plug for fertilization. 207 20

The economic potential of the biotechnology of artificial insemination for genetic improvement and disease control was recognized in the United States 50 years ago. To fully exploit this technology in dairy cattle, researchers worked closely with industry to study testicular function, best methods for harvesting and evaluating semen, techniques for preserving and inseminating sperm and finally, methods for mass recording of fertility information. Methods of testicular and semen evaluation have been developed which are highly correlated with other reproductive characteristics, including fertility. This has resulted in an unprecedented opportunity to study experimentally imposed conditions and naturally occurring environmental conditions upon reproductive efficiency in the male. The selection and testing of sires has resulted practically in the elimination of genes which produce lethal or severely depressed performance. The use of one male for the controlled insemination of many females also has facilitated studies on reproductive problems in the female. While less selective breeding programs have been conducted with the rabbit relative to reproductive function, the rabbit has been used extensively as a model for large domestic animals and humans. The rabbit is the smallest laboratory animal which can be trained easily to ejaculate into an artificial vagina and use the semen for insemination. This permits longitudinal and correlative studies to be performed relating testis function and epididymal transport to sperm output, semen quality and fertility. Spermatogenesis of both bulls and rabbits is sensitive to toxicants. The effects can be monitored by testicular biopsy and cytological evaluation of the testis, by semen collection and semen evaluation, and by in vitro and in vivo fertility testing. Gross effects on the testis are detectable in the live animal by measuring testis size and by ultrasound profiles.
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PMID:Value of testicular and sperm profiles in optimizing reproductive success: lessons learned from selective breeding programs of domestic and laboratory animals. 266 85

The reproductive biology of the female little mastiff bat (Mormopterus planiceps) was studied from specimens obtained throughout the year in southeast Australia, within the region occupied only by the long penile form of this species. Mormopterus planiceps appeared to undergo a single pregnancy each year and was monotocous. Conception occurred during late winter/early spring after a protracted proestrus, during which the uterine/vaginal epithelia attained an extraordinary thickness; spermatozoa were present in the uterine corpus, vagina, and intramural oviduct for at least 2 months prior to ovulation, although only those present in the oviducts were entire and thus appeared to be viable. Following ovulation, a massive postovulatory infiltration of phagocytes occurred; and the thickness of the uterine corpus epithelium was dramatically reduced. As in other molossids, the tract was bicornuate and dextrally functional. The length of gestation was difficult to determine because early embryonic stages, up to implantation, appeared to span several months (late July/August/September) as did parturition (December/January). Growth of the young was slow; nevertheless, females attained sexual maturity in their first year. Several unusual features included the presence of a long os clitoridis, and tubuloalveolar sudoriferous and associated lobulated, sebaceous, paravaginal glands, which surrounded and emptied into the lower vagina. A deep fornix anterior and lateral to the cervix probably serves to receive the secondary glans penis. The epithelium of the uterine corpus was stratified and indistinguishable, in its cytology and cyclicity, from that of the vagina; furthermore, it lacked a glandular endometrium. This portion of the female tract likely receives the elongated primary glans. These findings are discussed in relation to other Molossidae and to the reproductive biology of male M. planiceps. Although the number of animals sampled was relatively small, the data suggest that this species does not exhibit the usual temperate molossid pattern of late winter/spring coincidence of spermatogenesis and ovulation. It would seem that pregnancy may begin, at least in some individuals, during the inhospitable winter months (when epididymal and uterine spermatozoa are abundant but spermatogenesis has largely terminated) and that additional conceptions continue into the early spring. The occurrence of sperm storage in both sexes of this species is unique among Molossidae studied to date.
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PMID:Reproductive biology of the female little mastiff bat, Mormopterus planiceps (Chiroptera: Molossidae) in southeast Australia. 360 56

Multidisciplinary and multinational task forces representing principal fields of research in fertility control have been set up by the World Health Organization. One task force is studying agents and methods that interfere with the transport and survival of the ovum, including chemical and surgical methods of occluding the oviducts, postcoital contraceptives, and the effect of drugs on the transport and survival of the ovum. The research of the task force on methods for the regulation of implantation includes investigation of medicated IUDs, immunological methods, and orally active agents disrupting implantation. The lines of research pursued by the task force on methods for the regulation of male fertility are on the mechanism of action of drugs shown to be effective in mammals, studies of epididymal function in relation to sperm maturation, storage, survival and transport, clinical trials of selected gestagen-androgen combinations, and studies designed to identify materials capable of inhibiting the secretion of follicle-stimulating hormone. Another task force is investigating methods for regulating sperm migration and survival in the human female, and aims at developing new agents and systems for their local delivery to the vagina and cervix. The objective of the task force on prostaglandins in fertility is to establish the efficacy, safety, and acceptability of prostaglandins and their analogs for the interruption of pregnancy and as contraceptives. Another task force is investigating the attributes of fertility-regulating methods and the sociocultural and psychological factors that determine acceptability. The assessment of the sequelae of induced abortion is the subject of another task force;y Consideration is being given to research projects on agents stimulating gonadal function and on mechanism of action of hormones and antihormones in relation to the regulation of fertility, developing better pharmacological models for screening new products, and the detection of ovulation.
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PMID:WHO task forces undertake collaborative research and development in fertility regulation. 474 97

The relationship between decreasing spermatogenic activity and fertility, pregnancy outcome and the progeny is poorly understood. To study this relationship a model where testosterone is given by a sustained release device is used. Adult male Sprague-Dawley rats received empty or testosterone-filled implants measuring 0.5, 1.0, 2.0, 3.0, 4.0 and 8.0 cm. On Day 90 and again on Day 104 each male was exposed to two females in proestrus. Twenty days later the females were killed. Corpora lutea, implantation sites, resorptions and live normal and abnormal fetuses were counted. Sperm counts in the caput-corpus region of the epididymis in the 3.0-, 4.0- and 8.0-cm testosterone treatment groups were 12.6%, 3.0% and 29.9% of control, while those in the caudal region were 19.8%, 4.0% and 50.8% of control, respectively. The number of females with spermatozoa in the vagina after breeding was significantly diminished only in animals treated with the 4.0-cm testosterone implants (control, 95.8%; 4.0-cm, 50%) while the number of pregnant females per sperm-positive females was markedly reduced in the females mated with both the 3.0-cm and 4.0-cm testosterone implants (control, 82.6%; 3.0-cm, 10.0%; 4.0-cm, 7.7%). There was no effect on the numbers of corpora lutea, on the incidence of pre- or post-implantation loss, malformations, or on the numbers of pups/litter. Individual animals with a decrease in caudal epididymal spermatozoal reserves to less than 5 million, however, are infertile. A decrease in epididymal spermatozoal reserves mediated by testosterone does not cause an increase in teratogenicity in the resultant progeny.
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PMID:Suppression of spermatogenesis by testosterone in adult male rats: effect on fertility, pregnancy outcome and progeny. 608 20

Exposure to diethylstilbestrol (DES) in utero is associated with adverse effects on the reproductive tract in male and female progeny. These effects include epididymal cysts, microphallus, cryptorchidism, and testicular hypoplasia in male subjects and adenosis, clear cell adenocarcinoma, and structural defects of the cervix, vagina, uterus, and fallopian tubes in female subjects. As these offspring have reached reproductive age, reports of adverse reproductive performance have been published, including still controversial reports of menstrual dysfunction and infertility. More well established are increased rates of spontaneous abortion, ectopic pregnancy, premature deliveries, and perinatal deaths, all contributing to an increase in overall adverse pregnancy outcome. Often there is correlation between the DES-associated anatomic abnormalities in the reproductive tract and the adverse reproductive performance. Altered male reproductive capacity is also suggested by diminished semen analyses and sperm penetration assays. A detailed review of these effects of in utero DES exposure is presented.
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PMID:In utero exposure to diethylstilbestrol: adverse effects on the reproductive tract and reproductive performance and male and female offspring. 612 86


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