|
Genetics Of Infertility
About 10–15% of human couples are infertile, unable to conceive. In approximately in half of these cases, the underlying cause is related to the male. The underlying causative factors in the male infertility can be attributed to environmental toxins, systemic disorders such as, hypothalamic–pituitary disease, testicular cancers and germ-cell aplasia. Genetic factors including aneuploidies and single-gene mutations are also contributed to the male infertility. Patients with nonobstructive azoospermia or oligozoospermia show microdeletions in the long arm of the Y chromosome and/or chromosomal abnormalities, each with the respective frequency of 9.7% and 13%. A large percentage of human male infertility is estimated to be caused by mutations in genes involved in primary or secondary spermatogenesis and sperm quality and function. Single-gene defects are the focus of most research carried out in this field. NR5A1 mutations are associated with male infertility, suggesting the po ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Infertility
Infertility is the inability of a person, animal or plant to reproduce by natural means. It is usually not the natural state of a healthy adult, except notably among certain eusocial species (mostly haplodiploid insects). It is the normal state of a human child or other young offspring, because they have not undergone puberty, which is the body's start of reproductive capacity. In humans, infertility is the inability to become pregnant after one year of unprotected and regular sexual intercourse involving a male and female partner.Chowdhury SH, Cozma AI, Chowdhury JH. Infertility. Essentials for the Canadian Medical Licensing Exam: Review and Prep for MCCQE Part I. 2nd edition. Wolters Kluwer. Hong Kong. 2017. There are many causes of infertility, including some that medical intervention can treat. Estimates from 1997 suggest that worldwide about five percent of all heterosexual couples have an unresolved problem with infertility. Many more couples, however, experience involu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 9 (human)
Chromosome 9 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome, as they normally do with all chromosomes. Chromosome 9 spans about 138 million base pairs of nucleic acids (the building blocks of DNA) and represents between 4.0 and 4.5% of the total DNA in cells. Genes Number of genes These are some of the gene count estimates of human chromosome 9. Because researchers use different approaches to genome annotation, their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 9. For a complete list, see the link in the infobox on the right. Diseases and disorders The follo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ovarian Failure
Primary ovarian insufficiency (POI) (also called premature ovarian insufficiency, premature menopause, and premature ovarian failure) is the partial or total loss of reproductive and hormonal function of the ovaries before age 40 because of folliclular (egg producing area) dysfunction or early loss of eggs. POI can be seen as part of a continuum of changes leading to menopause that differ from age-appropriate menopause in the age of onset, degree of symptoms, and sporadic return to normal ovarian function. POI affects approximately 1 in 10,000 women under age 20, 1 in 1,000 women under age 30, and 1 in 100 of those under age 40. A medical triad for the diagnosis is amenorrhea, hypergonadotropism, and hypoestrogenism. Physical and emotional symptoms include hot flashes, night sweats, dry skin, vaginal dryness, irregular or absent menstruation, anxiety, depression, mental fog, irritability, nervousness, decreased libido, and increased autoimmune disruption. The sense of shock a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Zygotes
A zygote (, ) is a eukaryotic cell formed by a fertilization event between two gametes. The zygote's genome is a combination of the DNA in each gamete, and contains all of the genetic information of a new individual organism. In multicellular organisms, the zygote is the earliest developmental stage. In humans and most other anisogamous organisms, a zygote is formed when an egg cell and sperm cell come together to create a new unique organism. In single-celled organisms, the zygote can divide asexually by mitosis to produce identical offspring. German zoologists Oscar and Richard Hertwig made some of the first discoveries on animal zygote formation in the late 19th century. Humans In human fertilization, a released ovum (a haploid secondary oocyte with replicate chromosome copies) and a haploid sperm cell (male gamete) combine to form a single diploid cell called the zygote. Once the single sperm fuses with the oocyte, the latter completes the division of the second meio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosomes
A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins are the histones. These proteins, aided by chaperone proteins, bind to and condense the DNA molecule to maintain its integrity. These chromosomes display a complex three-dimensional structure, which plays a significant role in transcriptional regulation. Chromosomes are normally visible under a light microscope only during the metaphase of cell division (where all chromosomes are aligned in the center of the cell in their condensed form). Before this happens, each chromosome is duplicated (S phase), and both copies are joined by a centromere, resulting either in an X-shaped structure (pictured above), if the centromere is located equatorially, or a two-arm structure, if the centromere is located distally. The joined copies are now called sis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Small Supernumerary Marker Chromosome
A small supernumerary marker chromosome (sSMC) is an abnormal extra chromosome. It contains copies of parts of one or more normal chromosomes and like normal chromosomes is located in the cell's nucleus, is replicated and distributed into each daughter cell during cell division, and typically has genes which may be expressed. However, it may also be active in causing birth defects and neoplasms (e.g. tumors and cancers). The sSMC's small size makes it virtually undetectable using classical cytogenetic methods: the far larger DNA and gene content of the cell's normal chromosomes obscures those of the sSMC. Newer molecular techniques such as fluorescence in situ hybridization, next generation sequencing, comparative genomic hybridization, and highly specialized cytogenetic G banding analyses are required to study it. Using these methods, the DNA sequences and genes in sSMCs are identified and help define as well as explain any effect(s) it may have on individuals. Human cells t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Germany
Germany,, officially the Federal Republic of Germany, is a country in Central Europe. It is the second most populous country in Europe after Russia, and the most populous member state of the European Union. Germany is situated between the Baltic and North seas to the north, and the Alps to the south; it covers an area of , with a population of almost 84 million within its 16 constituent states. Germany borders Denmark to the north, Poland and the Czech Republic to the east, Austria and Switzerland to the south, and France, Luxembourg, Belgium, and the Netherlands to the west. The nation's capital and most populous city is Berlin and its financial centre is Frankfurt; the largest urban area is the Ruhr. Various Germanic tribes have inhabited the northern parts of modern Germany since classical antiquity. A region named Germania was documented before AD 100. In 962, the Kingdom of Germany formed the bulk of the Holy Roman Empire. During the 16th ce ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Caucasian Race
The Caucasian race (also Caucasoid or Europid, Europoid) is an obsolete racial classification of human beings based on a now-disproven theory of biological race. The ''Caucasian race'' was historically regarded as a biological taxon which, depending on which of the historical race classifications was being used, usually included ancient and modern populations from all or parts of Europe, Western Asia, Central Asia, South Asia, North Africa, and the Horn of Africa. First introduced in the 1780s by members of the Göttingen school of history, the term denoted one of three purported major races of humankind (those three being Caucasoid, Mongoloid, and Negroid). In biological anthropology, ''Caucasoid'' has been used as an umbrella term for phenotypically similar groups from these different regions, with a focus on skeletal anatomy, and especially cranial morphology, without regard to skin tone. Ancient and modern "Caucasoid" populations were thus not exclusively "white", but rang ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gonadal Dysgenesis
Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in the male or female. It is the atypical development of the gonads in an embryo, with reproductive tissue replaced with functionless, fibrous tissue, termed streak gonads. Streak gonads are a form of aplasia, resulting in hormonal failure that manifests as sexual infantism and infertility, with no initiation of puberty and secondary sex characteristics. Gonadal development is a genetically controlled process by the chromosomal sex ( XX or XY) which directs the formation of the gonad (ovary or testis). Differentiation of the gonads requires a tightly regulated cascade of genetic, molecular and morphogenic events. At the formation of the developed gonad, steroid production influences local and distant receptors for continued morphological and biochemical changes. This results in the appropriate phenotype corresponding to the karyotype (46,XX for females and 46,XY for males). Gon ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Adrenal Gland Disorder
Adrenal gland disorders (or diseases) are conditions that interfere with the normal functioning of the adrenal glands. Adrenal disorders may cause hyperfunction or hypofunction, and may be congenital or acquired. The adrenal gland produces hormones that affects growth, development and stress, and also helps to regulate kidney function. There are two parts of the adrenal glands, the adrenal cortex and the adrenal medulla. The adrenal cortex produces mineralocorticoids, which regulate salt and water balance within the body, glucocorticoids (including cortisol) which have a wide number of roles within the body, and androgens, hormones with testosterone-like function.Adrenal Glands Johns Hopkins Medicine Health Library. The |
Disorders Of Sex Development
Disorders of sex development (DSDs), also known as differences in sex development, diverse sex development and variations in sex characteristics (VSC), are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical. DSDs are subdivided into groups in which the labels generally emphasize the karyotype's role in diagnosis: 46,XX; 46,XY; sex chromosome; XX, sex reversal; ovotesticular disorder; and XY, sex reversal. Overview DSDs are medical conditions encompassing any problem noted at birth where the genitalia are atypical in relation to the chromosomes or gonads. There are several types of DSDs and their effect on the external and internal reproductive organs varies greatly. A frequently-used social and medical adjective for people with DSDs is "intersex". Urologists were concerned that terms like intersex, hermaphrodite, and pseudohermaphrodite were confusing and pejorative. This led to the Chicago Consen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Karyotype
A karyotype is the general appearance of the complete set of metaphase chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes. Karyotyping is the process by which a karyotype is discerned by determining the chromosome complement of an individual, including the number of chromosomes and any abnormalities. A karyogram or idiogram is a graphical depiction of a karyotype, wherein chromosomes are organized in pairs, ordered by size and position of centromere for chromosomes of the same size. Karyotyping generally combines light microscopy and photography, and results in a photomicrographic (or simply micrographic) karyogram. In contrast, a schematic karyogram is a designed graphic representation of a karyotype. In schematic karyograms, just one of the sister chromatids of each chromosome is generally shown for brevity, and in reality they are generally so close together that they look as one on photomicrographs as well ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
