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Congenital absence of the vas deferens

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Congenital absence of the vas deferens ( CAVD ) is a condition in which the vasa deferentia reproductive organs fail to form properly prior to birth . It may either be unilateral (CUAVD) or bilateral (CBAVD).

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56-409: The vas deferens connect the sperm-producing testicles to the penis . Therefore, those who are missing both vas deferens are typically able to create sperm but are unable to transport them appropriately. Their semen does not contain sperm, a condition known as azoospermia . Unilateral absence may not show any abnormalities in semen analysis. Vas deferens are less commonly palpated during routine

112-448: A centriole , and perhaps also an oocyte -activating factor (OAF). It may also contribute with paternal messenger RNA (mRNA), also contributing to embryonic development. The human spermatozoon contains at least 7500 different proteins . Human sperm genetics has been associated with human evolution , per a 2020 study. DNA damages present in spermatozoa in the period after meiosis but before fertilization may be repaired in

168-419: A Y-chromosome. A human sperm cell consists of a flat, disc shaped head 5.1  μm by 3.1 μm and a tail known as a flagellum 50 μm long. The flagellum propels the sperm cell (at about 1–3 mm/minute in humans) by whipping in an elliptical cone. Sperm have an olfactory guidance mechanism , and after reaching the fallopian tubes , must undergo a period of capacitation before penetration of

224-431: A new diploid individual, known as a sporophyte . In seed plants , a structure called the ovule contains the female gametophyte. The gametophyte produces an egg cell. After fertilization , the ovule develops into a seed containing the embryo. In flowering plants , the female gametophyte (sometimes referred to as the embryo sac) has been reduced to just eight cells inside the ovule . The gametophyte cell closest to

280-863: A physical examination, hence the absence may go unnoticed. Also, injury to Vas deferens common in surgery. Vas deferens may be absent on one or both sides, and in whole or in part. When only a part of Vas deferens is absent, it may fail to establish communication with the epididymis. In one of the largest such studies, a study of 23,013 individuals seeking for vasectomy, 159 were suspected to be having UAVD. Among 159 men identified as potentially having CUAVD, 47 had only one testicle, 26 had bilateral vasa, and four were misdiagnosed (post-vasectomy semen analysis showing motile sperm after unilateral vasectomy) leaving 82 men deemed cases of CUAVD (0.36% of total sample). 82 men were further classified as confirmed (n=48, 0.21%) and possible (n=34, 0.15%; 22 without and 12 with scrotal anomalies) congenital UAVD. The misdiagnosis ratio of CUAVD

336-426: A signal that the cell should not be rejected. The female immune system might otherwise attack sperm in the reproductive tract . The specific glycoproteins coating sperm cells are also utilized by some cancerous and bacterial cells, some parasitic worms, and HIV-infected white blood cells, thereby avoiding an immune response from the host organism . The blood-testis barrier , maintained by the tight junctions between

392-445: Is 21 years. The capacitation is the final phase of spermatozoa development, when they acquire the capability to fertilize the oocyte. In vivo, it happens during ejaculation, when spermatozoa leave the vagina and come in the superior female reproductive tract. In vitro, it happens when the spermatozoa is washed and purified. Almost 30-40% of infertility is due to male factor, so several strategies have been created in order to recover

448-416: Is a motile sperm cell produced by male animals relying on internal fertilization. A spermatozoon is a moving form of the haploid cell that is the male gamete that joins with an ovum to form a zygote . (A zygote is a single cell, with a complete set of chromosomes , that normally develops into an embryo .) Sperm cells contribute approximately half of the nuclear genetic information to

504-433: Is a necessary medium for sperm and egg to meet. Algae and lower plant sperm cells are often multi-flagellated (see image) and thus morphologically different from animal spermatozoa. Some algae and fungi produce non-motile sperm cells, called spermatia. In higher plants and some algae and fungi, fertilization involves the migration of the sperm nucleus through a fertilization tube (e.g. pollen tube in higher plants) to reach

560-416: Is an intermediate form, the ovoviviparous animals: the embryo develops within and is nourished by an egg as in the oviparous case, but then it hatches inside the mother's body shortly before birth, or just after the egg leaves the mother's body. Some fish, reptiles and many invertebrates use this technique. Nearly all land plants have alternating diploid and haploid generations. Gametes are produced by

616-518: Is increased by tobacco smoking, and occupational exposure to benzene, insecticides, and perfluorinated compounds. Increased aneuploidy of spermatozoa often occurs in association with increased DNA damage. DNA fragmentation and increased in situ DNA susceptibility to denaturation, the features similar to these seen during apoptosis of somatic cells, characterize abnormal spermatozoa in cases of male infertility . Although DNA repair has long been considered impossible in human spermatozoa due to

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672-405: Is one of the most consistent features of cystic fibrosis as it affects 98-99% of individuals in this CF patient population. In contrast, acute or persistent respiratory symptoms present in only 51% of total CF patients. Scrotal ultrasonography and transrectal ultrasonography (TRUS) are useful in detecting uni- or bilateral CAVD, which may be associated with visible abnormalities or agenesis of

728-410: Is referred to a total amount of >39 mill ejaculated , >32% with progressive motility and >4% normal morphology. Also, a normal ejaculation in humans must have a volume over 1.5 ml, being an excessive volume 6 ml per ejaculation ( hyperspermia ). An insufficient volume is called hypospermia . These problems are related to several complications in spermatozoa production, for example: Approaching

784-399: Is responsible for the influx of calcium. The sudden rise in calcium levels causes the flagellum to form deeper bends, propelling the sperm more forcefully through the viscous environment. Sperm hyperactivity is necessary for breaking through two physical barriers that protect the egg from fertilization. The second process in sperm activation is the acrosome reaction . This involves releasing

840-412: Is the female reproductive cell, or gamete , in most anisogamous organisms (organisms that reproduce sexually with a larger, female gamete and a smaller, male one). The term is used when the female gamete is not capable of movement (non- motile ). If the male gamete ( sperm ) is capable of movement, the type of sexual reproduction is also classified as oogamous . A nonmotile female gamete formed in

896-442: Is the reproductive cell in males and will only survive in warm environments; once it leaves the male body the sperm's survival likelihood is reduced and it may die, thereby decreasing the total sperm quality . Sperm cells come in two types, "female" and "male". Sperm cells that give rise to female (XX) offspring after fertilization differ in that they carry an X-chromosome, while sperm cells that give rise to male (XY) offspring carry

952-437: Is used for the young ovum of an animal. In vertebrates, ova are produced by female gonads (sex glands) called ovaries . A number of ova are present at birth in mammals and mature via oogenesis . Studies performed on humans, dogs, and cats in the 1870s suggested that the production of oocytes (immature egg cells) stops at or shortly after birth. A review of reports from 1900 to 1950 by zoologist Solomon Zuckerman cemented

1008-487: The Illini Variable Temperature (IVT) diluent, which have been reported to be able to preserve high fertility of spermatozoa for over seven days. The IVT diluent is composed of several salts, sugars and antibacterial agents and gassed with CO 2 . Semen cryopreservation can be used for far longer storage durations. For human spermatozoa, the longest reported successful storage with this method

1064-547: The Sertoli cells of the seminiferous tubules, prevents communication between the forming spermatozoa in the testis and the blood vessels (and immune cells circulating within them) within the interstitial space . This prevents them from eliciting an immune response. The blood-testis barrier is also important in preventing toxic substances from disrupting spermatogenesis. Fertilization relies on spermatozoa for most sexually reproductive animals. Some species of fruit fly produce

1120-460: The diploid offspring (excluding, in most cases, mitochondrial DNA ). In mammals, the sex of the offspring is determined by the sperm cell: a spermatozoon bearing an X chromosome will lead to a female (XX) offspring, while one bearing a Y chromosome will lead to a male (XY) offspring. Sperm cells were first observed in Antonie van Leeuwenhoek 's laboratory in 1677. The human sperm cell

1176-402: The germinal vesicle , and the nucleolus , called the germinal disc . The ooplasm consists of the cytoplasm of the ordinary animal cell with its spongioplasm and hyaloplasm , often called the formative yolk ; and the nutritive yolk or deutoplasm , made of rounded granules of fatty and albuminoid substances imbedded in the cytoplasm. Mammalian ova contain only a tiny amount of

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1232-415: The micropyle opening of the ovule develops into the egg cell. Upon pollination , a pollen tube delivers sperm into the gametophyte and one sperm nucleus fuses with the egg nucleus. The resulting zygote develops into an embryo inside the ovule. The ovule, in turn, develops into a seed and in many cases, the plant ovary develops into a fruit to facilitate the dispersal of the seeds. Upon germination ,

1288-418: The axial filament in the cytoplasm. It provides motility, and hence is called the powerhouse of the sperm. It also has a ring centriole (annulus) that form a diffusion barrier between the middle piece and the principal piece and serve as a stabilizing structure for tail rigidity. Tail: The flagellum is the longest part (50 μm), having an axial filament surrounded by cytoplasm and plasma membrane, but at

1344-414: The belief that females have a finite number of oocytes that are formed before they are born. This dogma has been challenged by a number of studies since 2004. Several studies suggest that ovarian stem cells exist within the mammalian ovary. Whether or not mature mammals can actually create new egg cells remains uncertain and is an ongoing research question. In all mammals , the ovum is fertilized inside

1400-405: The contents of the acrosome, which disperse, and the exposure of enzymes attached to the inner acrosomal membrane of the sperm. This occurs after the sperm first meets the egg. This lock-and-key type mechanism is species-specific and prevents the sperm and egg of different species from fusing. There is some evidence that this binding is what triggers the acrosome to release the enzymes that allow

1456-419: The egg cell is a rather complex, multistep process of chemotaxis guided by different chemical substances/stimuli on individual levels of phylogeny. One of the most significant, common signaling characters of the event is that a prototype of professional chemotaxis receptors, formyl peptide receptor (60,000 receptor/cell) as well as the activator ability of its ligand formyl Met-Leu-Phe have been demonstrated in

1512-430: The egg cell. Spermatozoa are produced in the seminiferous tubules of the testicles in a process called spermatogenesis . Round cells called spermatogonia divide and differentiate eventually to become spermatozoa. During copulation , the cloaca or vagina gets inseminated , and then the spermatozoa move through chemotaxis to the ovum inside an oviduct . In assisted reproductive technology , normozoospermia

1568-400: The egg, it undergoes the acrosome reaction in which the membrane surrounding the acrosome fuses with the plasma membrane of the sperm's head, exposing the contents of the acrosome. Neck: It is the smallest part (.03 μm), and has a proximal centriole parallel to the base of the nucleus and distal centriole perpendicular to the previous one. The proximal centriole is present also in

1624-725: The embryo grows into a seedling . In the moss Physcomitrella patens , the Polycomb protein FIE is expressed in the unfertilised egg cell (Figure, right) as the blue colour after GUS staining reveals. Soon after fertilisation the FIE gene is inactivated (the blue colour is no longer visible, left) in the young embryo. In algae , the egg cell is often called oosphere. Drosophila oocytes develop in individual egg chambers that are supported by nurse cells and surrounded by somatic follicle cells. The nurse cells are large polyploid cells that synthesize and transfer RNA, proteins, and organelles to

1680-677: The epididymis, seminal vesicles or kidneys. Individuals with CAVD can reproduce with the assistance of modern technology with a combination of testicular sperm extraction and intracytoplasmic sperm injection (ICSI). However, as the risk of either cystic fibrosis or renal agenesis is likely to be higher in the children, genetic counseling is generally recommended. Spermatozoon A spermatozoon ( / s p ər ˌ m æ t ə ˈ z oʊ . ən , ˌ s p ɜːr m ə t ə -/ ; also spelled spermatozoön ; pl. : spermatozoa ; from Ancient Greek σπέρμα ( spérma )  'seed' and ζῷον ( zôion )  'animal')

1736-424: The female body (as in birds), or outside (as in many fish). After fertilization, an embryo develops, nourished by nutrients contained in the egg. It then hatches from the egg, outside the mother's body. See egg for a discussion of eggs of oviparous animals. The egg cell's cytoplasm and mitochondria are the sole means the egg can reproduce by mitosis and eventually form a blastocyst after fertilization. There

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1792-461: The female body. Human ova grow from primitive germ cells that are embedded in the substance of the ovaries . The ovum is one of the largest cells in the human body, typically visible to the naked eye without the aid of a microscope or other magnification device. The human ovum measures approximately 120 μm (0.0047 in) in diameter. Ooplasm is like the yolk of the ovum, a cell substance at its center, which contains its nucleus , named

1848-405: The female reproductive tract and are a means by which fertilization is promoted. The postmeiotic phase of mouse spermatogenesis is very sensitive to environmental genotoxic agents, because as male germ cells form mature spermatozoa they progressively lose the ability to repair DNA damage. Irradiation of male mice during late spermatogenesis can induce damage that persists for at least 7 days in

1904-436: The fertilized egg, but if not repaired, can have serious deleterious effects on fertility and the developing embryo. Human spermatozoa are particularly vulnerable to free radical attack and the generation of oxidative DNA damage. (see e.g. 8-Oxo-2'-deoxyguanosine ) Exposure of males to certain lifestyle, environmental or occupational hazards may increase the risk of aneuploid spermatozoa. In particular, risk of aneuploidy

1960-677: The fertilizing spermatozoa, and disruption of maternal DNA double-strand break repair pathways increases spermatozoa-derived chromosomal aberrations. Treatment of male mice with melphalan , a bifunctional alkylating agent frequently employed in chemotherapy, induces DNA lesions during meiosis that may persist in an unrepaired state as germ cells progress through DNA repair-competent phases of spermatogenic development. Such unrepaired DNA damages in spermatozoa, after fertilization, can lead to offspring with various abnormalities. Sea urchins such as Arbacia punctulata are ideal organisms to use in sperm research, they spawn large numbers of sperm into

2016-403: The functional spermatozoa. The MMP (Million Motile Progressive cells per milliliter) measure is synonymous with capacitation , and is very useful parameter to decide, along with a spermiogram , the kind of treatment needed. it represents the ratio between the % of progressive motile sperm obtained in capacitated and the % of progressive motile sperm obtained in ejaculated. It is based on

2072-454: The haploid generation, which is known as the gametophyte . The female gametophyte produces structures called archegonia , and the egg cells form within them via mitosis . The typical bryophyte archegonium consists of a long neck with a wider base containing the egg cell. Upon maturation, the neck opens to allow sperm cells to swim into the archegonium and fertilize the egg. The resulting zygote then gives rise to an embryo, which will grow into

2128-430: The high level of DNA compaction in these cells, human spermatozoa possess a truncated base excision repair pathway that is mediated by 8-oxoguanine DNA glycosylase 1 (OGG1) . Thus mature spermatozoa appear to have a limited capacity to mount a DNA repair response to oxidative stress . Glycoprotein molecules on the surface of ejaculated sperm cells are recognized by all human female immune systems, and interpreted as

2184-416: The largest known spermatozoon found in nature. Drosophila melanogaster produces sperm that can be up to 1.8 mm, while its relative Drosophila bifurca produces the largest known spermatozoon, measuring over 58 mm in length. In Drosophila melanogaster , the entire sperm, tail included, gets incorporated into the oocyte cytoplasm , however, for Drosophila bifurca only a small portion of

2240-517: The mature spermatozoon; the distal centriole disappears after axoneme assembly. The proximal centriole enters into the egg during fertilisation and starts the first cleavage division of the egg, which has no centriole. The distal centriole gives rise to the axial filament which forms the tail and has a (9+2) arrangement. A transitory membrane called the Manchette lies in the middle piece. Middle piece: It has 10–14 spirals of mitochondria surrounding

2296-461: The next step will be intrauterine insemination and later conventional in vitro fertilization . With less than 1.0×10 progressive motile sperm per milliliter, we will perform intracytoplasmic sperm injection . In case of azoospermia (no spermatozoa in the ejaculate), we will do a testicular biopsy in order to check if there are spermatozoa in the testes or if no spermatozoa are being produced. Ovum The egg cell or ovum ( pl. : ova )

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2352-436: The nutritive yolk, for nourishing the embryo in the early stages of its development only. In contrast, bird eggs contain enough to supply the chick with nutriment throughout the whole period of incubation. In the oviparous animals (all birds , most fish , amphibians and reptiles ), the ova develop protective layers and pass through the oviduct to the outside of the body. They are fertilized by male sperm either inside

2408-427: The oocyte is said to have become activated . It undergoes its secondary meiotic division, and the two haploid nuclei (paternal and maternal) fuse to form a zygote . In order to prevent polyspermy and minimise the possibility of producing a triploid zygote, several changes to the egg's zona pellucida renders them impenetrable shortly after the first sperm enters the egg. Spermatozoa can be stored in diluents such as

2464-440: The oogonium of some algae, fungi, oomycetes, or bryophytes is an oosphere . When fertilized, the oosphere becomes the oospore . When egg and sperm fuse during fertilisation , a diploid cell (the zygote ) is formed, which rapidly grows into a new organism. While the non-mammalian animal egg was obvious, the doctrine ex ovo omne vivum ("every living [animal comes from] an egg"), associated with William Harvey (1578–1657),

2520-529: The ovary with the egg and support it as it grows. The initial change is called "hyperactivation", which causes a change in spermatozoa motility. They swim faster and their tail movements become more forceful and erratic. A recent discovery links hyperactivation to a sudden influx of calcium ion into the tails. The whip-like tail (flagellum) of the sperm is studded with ion channels formed by proteins called CatSper . These channels are selective, allowing only calcium ions to pass. The opening of CatSper channels

2576-466: The ovum. Head: It has a compact nucleus with only chromatic substance and is surrounded by only a thin rim of cytoplasm. Above the nucleus lies a cap-like structure called the acrosome , formed by modification of the Golgi body, which secretes the enzyme spermlysin ( hyaluronidase, corona-penetrating enzyme, zona lysin, or acrosin ), that is necessary for fertilization. As the spermatozoon approaches

2632-420: The posterior end the axial filament is naked. The flagellum gives movement to the cell. Semen has an alkaline nature and the spermatozoa do not reach full motility (hypermotility) until they reach the vagina , where the alkaline pH is neutralized by acidic vaginal fluids. This gradual process takes 20–30 minutes. During this period, fibrinogen from the seminal vesicles forms a clot, securing and protecting

2688-557: The recovery percentage. Depending on the percentage, we will decide the quality of the motile spermatozoa recovery: 15 to 25 million sperm/ml is considered optimal, between 5 and 15 million is considered enough and less than 5 million is considered sub-optimal or not sufficient. Regarding the values that we have obtained, along with the spermiogram results, different techniques will be displayed. For example, if more than 1.0×10 progressive motile sperm per milliliter are found, it will be recommended to have sexual intercourse, and if that fails,

2744-422: The sea, making them well-suited as model organisms for experiments. The spermatozoa of marsupials are usually longer than those of placental mammals . The gametophytes of bryophytes , ferns and some gymnosperms produce motile sperm cells, contrary to pollen grains employed in most gymnosperms and all angiosperms . This renders sexual reproduction in the absence of water impossible, since water

2800-457: The second group is not well understood. In the subset of males with both CBAVD and URA, the CFTR mutation has been shown to occur at a rate only slightly higher than the overall population. It has been suggested that another gene may be responsible for this condition. Mutation of the CFTR gene is found to result in obstructive azoospermia in postpubertal males with cystic fibrosis. Strikingly, CAVD

2856-402: The sperm to fuse with the egg. ZP3, one of the proteins that make up the zona pellucida, then binds to a partner molecule on the sperm. Enzymes on the inner acrosomal membrane digest the zona pellucida. After the sperm penetrates the zona pellucida, part of the sperm's cell membrane then fuses with the egg cell's membrane, and the contents of the head diffuse into the egg. Upon penetration,

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2912-424: The sperm. Just as they become hypermotile, fibrinolysin from the prostate gland dissolves the clot, allowing the sperm to progress optimally. The spermatozoon is characterized by a minimum of cytoplasm and the most densely packed DNA known in eukaryotes . Compared to mitotic chromosomes in somatic cells , sperm DNA is at least sixfold more highly condensed. The specimen contributes with DNA / chromatin ,

2968-464: The surface membrane even in the case of human sperms. Mammalian sperm cells become even more active when they approach an egg cell in a process called sperm activation . Sperm activation has been shown to be caused by calcium ionophores in vitro , progesterone released by nearby cumulus cells and binding to ZP3 of the zona pellucida . The cumulus cells are embedded in a gel-like substance made primarily of hyaluronic acid , and developed in

3024-425: The tail enters the oocyte. The wood mouse Apodemus sylvaticus possesses spermatozoa with falciform morphology. Another characteristics which makes these gametocytes unique is the presence of an apical hook on the sperm head. This hook is used to attach to the hooks or to the flagella of other spermatozoa. Aggregation is caused by these attachments and mobile trains result. These trains provide improved motility in

3080-488: Was a rejection of spontaneous generation and preformationism as well as a bold assumption that mammals also reproduced via eggs. Karl Ernst von Baer discovered the mammalian ovum in 1827. The fusion of spermatozoa with ova (of a starfish) was observed by Oskar Hertwig in 1876. In animals, egg cells are also known as ova (singular ovum , from the Latin word ovum meaning ' egg '). The term ovule in animals

3136-613: Was low when scrotal content was otherwise normal (1:48), but higher if anomalies were present (3:12). There are two main populations of CAVD; the larger group is associated with cystic fibrosis and occurs because of a mutation in the CFTR gene , while the smaller group (estimated between 10 and 40%) is associated with unilateral renal agenesis (URA). The mutational spectrum of CFTR in the first group differs from that observed in classic cystic fibrosis, with milder missense or splice variants present on at least one chromosome. The genetic basis of

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