Karyotype of a normal male with 22 pairs of autosomes and one pair of sex chromosomes. U.S. Department of Energy Human Genome Program

How Chromosomes Determine Sex:

Chromosomes are long, stringy aggregates of genes that carry heredity information. They are composed of DNA and proteins and are located within the nucleus of our cells. Chromosomes determine everything from hair color and eye color to sex. Whether you are a male or female depends on the presence or absence of certain chromosomes.

Human cells contain 23 pairs of chromosomes for a total of 46.

There are 22 pairs of autosomes and one pair of sex chromosomes. The sex chromosomes are the X chromosome and the Y chromosome.

Sex Chromosomes:

In human sexual reproduction, two distinct gametes fuse to form a zygote. Gametes are reproductive cells produced by a type of cell division called meiosis. Gametes are also called sex cells. They contain only one set of chromosomes and are said to be haploid.

The male gamete, called the spermatozoan, is relatively motile and usually has a flagellum. The female gamete, called the ovum, is nonmotile and relatively large in comparison to the male gamete. When the haploid male and female gametes unite in a process called fertilization, they form what is called a zygote. The zygote is diploid, meaning that it contains two sets of chromosomes.

Sex Chromosomes X-Y:

The male gametes or sperm cells in humans and other mammals are heterogametic and contain one of two types of sex chromosomes. They are either X or Y. The female gametes or eggs however, contain only the X sex chromosome and are homogametic.

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How Chromosomes Determine Sex - About

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Reviewed January 2012

The X chromosome is one of the two sex chromosomes in humans (the other is the Y chromosome). The sex chromosomes form one of the 23 pairs of human chromosomes in each cell. The X chromosome spans about 155 million DNA building blocks (base pairs) and represents approximately 5 percent of the total DNA in cells.

Each person normally has one pair of sex chromosomes in each cell. Females have two X chromosomes, while males have one X and one Y chromosome. Early in embryonic development in females, one of the two X chromosomes is randomly and permanently inactivated in cells other than egg cells. This phenomenon is called X-inactivation or Lyonization. X-inactivation ensures that females, like males, have one functional copy of the X chromosome in each body cell. Because X-inactivation is random, in normal females the X chromosome inherited from the mother is active in some cells, and the X chromosome inherited from the father is active in other cells.

Some genes on the X chromosome escape X-inactivation. Many of these genes are located at the ends of each arm of the X chromosome in areas known as the pseudoautosomal regions. Although many genes are unique to the X chromosome, genes in the pseudoautosomal regions are present on both sex chromosomes. As a result, men and women each have two functional copies of these genes. Many genes in the pseudoautosomal regions are essential for normal development.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. The X chromosome likely contains 800 to 900 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body.

Genes on the X chromosome are among the estimated 20,000 to 25,000 total genes in the human genome.

Many genetic conditions are related to changes in particular genes on the X chromosome. This list of disorders associated with genes on the X chromosome provides links to additional information.

Changes in the structure or number of copies of a chromosome can also cause problems with health and development. The following chromosomal conditions are associated with such changes in the X chromosome.

In most individuals with 46,XX testicular disorder of sex development, the condition results from an abnormal exchange of genetic material between chromosomes (translocation). This exchange occurs as a random event during the formation of sperm cells in the affected person's father. The translocation affects the gene responsible for development of a fetus into a male (the SRY gene). The SRY gene, which is normally found on the Y chromosome, is misplaced in this disorder, almost always onto an X chromosome. A fetus with an X chromosome that carries the SRY gene will develop as a male despite not having a Y chromosome.

48,XXYY syndrome is caused by the presence of an extra X chromosome and an extra Y chromosome in a male's cells. Extra genetic material from the X chromosome interferes with male sexual development, preventing the testes from functioning normally and reducing the levels of testosterone in adolescent and adult males. Extra copies of genes from the pseudoautosomal regions of the extra X and Y chromosome contribute to the signs and symptoms of 48,XXYY syndrome; however, the specific genes have not been identified.

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X chromosome - Genetics Home Reference

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Genetic Components of Sex and Gender

Humans are born with 46 chromosomes in 23 pairs. The X and Y chromosomes determine a persons sex. Most women are 46XX and most men are 46XY. Research suggests, however, that in a few births per thousand some individuals will be born with a single sex chromosome (45X or 45Y) (sex monosomies) and some with three or more sex chromosomes (47XXX, 47XYY or 47XXY, etc.) (sex polysomies). In addition, some males are born 46XX due to the translocation of a tiny section of the sex determining region of the Y chromosome. Similarly some females are also born 46XY due to mutations in the Y chromosome. Clearly, there are not only females who are XX and males who are XY, but rather, there is a range of chromosome complements, hormone balances, and phenotypic variations that determine sex.

The biological differences between men and women result from two processes: sex determination and differentiation.(3) The biological process of sex determination controls whether the male or female sexual differentiation pathway will be followed. The process of biological sex differentiation (development of a given sex) involves many genetically regulated, hierarchical developmental steps. More than 95% of the Y chromosome is male-specific (4) and a single copy of the Y chromosome is able to induce testicular differentiation of the embryonic gonad. The Y chromosome acts as a dominant inducer of male phenotype and individuals having four X chromosomes and one Y chromosome (49XXXXY) are phenotypically male. (5) When a Y chromosome is present, early embryonic testes develop around the 10th week of pregnancy. In the absence of both a Y chromosome and the influence of a testis-determining factor (TDF), ovaries develop.

Gender, typically described in terms of masculinity and femininity, is a social construction that varies across different cultures and over time. (6) There are a number of cultures, for example, in which greater gender diversity exists and sex and gender are not always neatly divided along binary lines such as male and female or homosexual and heterosexual. The Berdache in North America, the faafafine (Samoan for the way of a woman) in the Pacific, and the kathoey in Thailand are all examples of different gender categories that differ from the traditional Western division of people into males and females. Further, among certain North American native communities, gender is seen more in terms of a continuum than categories, with special acknowledgement of two-spirited people who encompass both masculine and feminine qualities and characteristics. It is apparent, then, that different cultures have taken different approaches to creating gender distinctions, with more or less recognition of fluidity and complexity of gender.

Sex Chromosome Abnormalities Turner syndrome XXX Females Klinefelter Syndrome XYY Males

Typical sexual development is the result of numerous genes, and mutation in any of these genes can result in partial or complete failure of sex differentiation. These include mutations or structural anomalies of the SRY region on the Y chromosome resulting in XY gonadal dysgenesis, XX males, or XY females; defects of androgen biosynthesis or androgen receptors, and others.

Hermaphroditism Congenital Adrenal Hyperplasia Androgen Insensitivity Syndrome

The issues of gender assignment, gender verification testing, and legal definitions of gender are especially pertinent to a discussion on the ELSI of gender and genetics. These practices, however, are misnomers as they actually refer to biological sex and not gender. Such a discrepancy is highlighted by the existence of intersex individuals whose psychosexual development and gender sometimes do not match the biological sex assigned to them as infants. In this report the term sex will be used where the practice refers to biological sex and not the more social construct of gender.

Gender Assignment of Intersex Infants and Children Legal Definitions of Gender

Chromosomes are the structures that carry genes which in turn transmit hereditary characteristics from parents to offspring. Humans have 23 pairs of chromosomes, one half of each pair inherited from each parent. The Y chromosome is small, carries few genes, and has abundant repetitive sequence, while the X chromosome is more autosome-like in form and content. (14)Despite being relatively gene-poor overall due to reduced recombination, the X and Y sex chromosomes are enriched for genes that relate to sexual development. (15)

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WHO | Gender and Genetics

Recommendation and review posted by Bethany Smith

A male () organism is the physiological sex that produces sperm. Each spermatozoon can fuse with a larger female gamete, or ovum, in the process of fertilization. A male cannot reproduce sexually without access to at least one ovum from a female, but some organisms can reproduce both sexually and asexually. Most male mammals, including male humans, have a Y chromosome, which codes for the production of larger amounts of testosterone to develop male reproductive organs.

Not all species share a common sex-determination system. In most animals, including humans, sex is determined genetically, but in some species it can be determined due to social, environmental or other factors. For example, Cymothoa exigua changes sex depending on the number of females present in the vicinity. [1]

The existence of two sexes seems to have been selected independently across different evolutionary lineages (see Convergent Evolution). The repeated pattern is sexual reproduction in isogamous species with two or more mating types with gametes of identical form and behavior (but different at the molecular level) to anisogamous species with gametes of male and female types to oogamous species in which the female gamete is very much larger than the male and has no ability to move. There is a good argument that this pattern was driven by the physical constraints on the mechanisms by which two gametes get together as required for sexual reproduction.[2]

Accordingly, sex is defined operationally across species by the type of gametes produced (i.e.: spermatozoa vs. ova) and differences between males and females in one lineage are not always predictive of differences in another.

Male/female dimorphism between organisms or reproductive organs of different sexes is not limited to animals; male gametes are produced by chytrids, diatoms and land plants, among others. In land plants, female and male designate not only the female and male gamete-producing organisms and structures but also the structures of the sporophytes that give rise to male and female plants.

A common symbol used to represent the male sex is the Mars symbol, (Unicode: U+2642 Alt codes: Alt+11)a circle with an arrow pointing northeast. The symbol is identical to the planetary symbol of Mars. It was first used to denote sex by Carolus Linnaeus in 1751. The symbol is often called a stylized representation of the Roman god Mars' shield and spear. According to Stearn, however, all the historical evidence favours that it is derived from , the contraction of the Greek name for the planet, Thouros.[3]

The sex of a particular organism may be determined by a number of factors. These may be genetic or environmental, or may naturally change during the course of an organism's life. Although most species with male and female sexes have individuals that are either male or female, hermaphroditic animals, such as worms, have both male and female reproductive organs.

Most mammals, including humans, are genetically determined as such by the XY sex-determination system where males have an XY (as opposed to XX) sex chromosome. It is also possible in a variety of species, including human beings, to be XXY or have other intersex/hermaphroditic qualities. These qualities are widely reported to be as common as redheadedness (about 2% of the population).[4] During reproduction, a male can give either an X sperm or a Y sperm, while a female can only give an X egg. A Y sperm and an X egg produce a male, while an X sperm and an X egg produce a female.

The part of the Y-chromosome which is responsible for maleness is the sex-determining region of the Y-chromosome, the SRY. The SRY activates Sox9, which forms feedforward loops with FGF9 and PGD2 in the gonads, allowing the levels of these genes to stay high enough in order to cause male development;[5] for example, Fgf9 is responsible for development of the spermatic cords and the multiplication of Sertoli cells, both of which are crucial to male sexual development.[6]

The ZW sex-determination system, where males have a ZZ (as opposed to ZW) sex chromosome may be found in birds and some insects (mostly butterflies and moths) and other organisms. Members of the insect order Hymenoptera, such as ants and bees, are often determined by haplodiploidy, where most males are haploid and females and some sterile males are diploid.[citation needed]

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Male - Wikipedia, the free encyclopedia

Recommendation and review posted by Bethany Smith

-A curious adult from California

August 6, 2004

What a fun question! This sort of thing has been bothering me too lately. The usual statistic is that all people are 99.9% the same. But is that true for men and women?

And what about our similarity to other animals? We are really only about 80% the same as a mouse at the genetic level so men and women are clearly more similar to each other than to mice. But what about chimpanzees? If people really are 98.7% the same as a chimpanzee, are male chimpanzees closer genetically to men than men are to women?

As you know, men have an X and a Y chromosome and women have two X chromosomes. So besides the usual 0.1% (or 3.2 million base pair) difference between people, men and women differ by the presence of the Y chromosome.

The Y chromosome is a tiny thing; it is about 59 million base pairs long and has only 78 genes. If we look at base pairs, the difference between men and women would be 59 million divided by 3.2 billion or about 1.8%. This translates to men and women being 98.2% the same.

Men and women are actually a bit more similar as the Y chromosome has about 5% of its DNA sequences in common with the X chromosome. This would change the number to 98.4% the same.

If the 98.7% number for chimp-human similarity is right, then by this measure, men and women are less alike than are female chimps and women. (More recent data suggests that chimps may be 95% instead of 98.7% the same, but this is still up in the air.)

Now if we look at the gene level instead of at the base pair level, men and women become much more similar. If we assume 30,000 total genes, then men and women are about 99.7% the same instead of 98.4%. (I haven't been able to find a good number for how many genes chimpanzees and humans share.)

So is the bottom line that men and male chimps have more in common than men and women? Of course not. If we take a closer look, we see some of the dangers of looking at raw percentages instead of individual changes.

More:
Understanding Genetics

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Susan knew she wasnt crazy. Although she hadnt felt like herself for a while, she knew her symptoms werent made up. She couldnt figure out why she was so tired and moody seemingly all the time. After all, she always took care of herself and enjoyed being active at age 51. Now, getting a good nights sleep is almost impossible. At times she even feels depressed.

Her symptoms are starting to affect her relationship with her kids, her husband, and friends. Little things that never used to bother her now seem like huge events. An accomplished professional, she experiences brain fog at work. And her diminished libido . . . well thats a new one. Sometimes she feels like she could lose it at any moment.

Her primary care doctor ran a battery of tests, including for low thyroid, but her results came back normal. The advice of youre just getting older doesnt sit well with her. Her PCP even prescribed anti-depressants and sleeping pills for Susan. Thats when she decided to take control of her health. Susan isnt someone who just wants to take another pill to treat symptoms. She wants to get to the bottom of her issues.

She was always curious about alternative health treatments. She'd heard about "integrative medicine" but wasn't sure what it entailed. She suspects that traditional medicine doesnt always have all the answers. Susan values her health immensely.

Shes spent so much time taking care of others and now its time to take care of herself.

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Hormone Center - Home

Recommendation and review posted by Bethany Smith

March 2015 we celebrate 3 years in business. In these 3 years we have experienced tremendous growth. With this growth has come growing pains and we sincerely thank you, our patients, for your patience with our expansion! We are honored and blessed to have you as part of our wellness initiative and, especially, for helping support a family-owned, small business in our community. We know were not the only option in town to purchase your supplements, but we thank you for investing in your health by supporting your local integrative provider! Thank you for your commitment to improving the quality of your life by improving your health.

As defined by the National Center for Complementary and Alternative Medicine at the National Institutes of Health:

Integrative medicine is medicine that integrates or combines the therapies of complimentary and alternative medicine with those practiced by mainstream medical practitioners for which there is high quality evidence of safety and effectiveness.

Dr. Stephanie Gray welcomes you to Functional, Holistic, and Integrative Medicinethe best of all the healthcare worlds combined!

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Integrative Health and Hormone Clinic Cedar Rapids, IA

Recommendation and review posted by Bethany Smith

Rationale: Autologous bone marrowderived or cardiac-derived stem cell therapy for heart disease has demonstrated safety and efficacy in clinical trials, but functional improvements have been limited. Finding the optimal stem cell type best suited for cardiac regeneration is the key toward improving clinical outcomes.

Objective: To determine the mechanism by which novel bone-derived stem cells support the injured heart.

Methods and Results: Cortical bonederived stem cells (CBSCs) and cardiac-derived stem cells were isolated from enhanced green fluorescent protein (EGFP+) transgenic mice and were shown to express c-kit and Sca-1 as well as 8 paracrine factors involved in cardioprotection, angiogenesis, and stem cell function. Wild-type C57BL/6 mice underwent sham operation (n=21) or myocardial infarction with injection of CBSCs (n=67), cardiac-derived stem cells (n=36), or saline (n=60). Cardiac function was monitored using echocardiography. Only 2/8 paracrine factors were detected in EGFP+ CBSCs in vivo (basic fibroblast growth factor and vascular endothelial growth factor), and this expression was associated with increased neovascularization of the infarct border zone. CBSC therapy improved survival, cardiac function, regional strain, attenuated remodeling, and decreased infarct size relative to cardiac-derived stem cells or saline-treated myocardial infarction controls. By 6 weeks, EGFP+ cardiomyocytes, vascular smooth muscle, and endothelial cells could be identified in CBSC-treated, but not in cardiac-derived stem cellstreated, animals. EGFP+ CBSC-derived isolated myocytes were smaller and more frequently mononucleated, but were functionally indistinguishable from EGFP myocytes.

Conclusions: CBSCs improve survival, cardiac function, and attenuate remodeling through the following 2 mechanisms: (1) secretion of proangiogenic factors that stimulate endogenous neovascularization, and (2) differentiation into functional adult myocytes and vascular cells.

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Bone-Derived Stem Cells Repair the Heart After Myocardial ...

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Clara's Story

Clara had a severe heart attack in 2004. Before contacting us she had received adult stem cells from a company in Thailand - a process requiring at least a one week stay.

When she contacted Stemaid, she had just had an echocardiogram showing that her overall left ventricular ejection fraction was estimated to be 30 to 35%. She opted to receive one injection of 5 million Embryonic Stem Cells by Stemaid in November 2010. She arrived at 1pm and was done by 3pm the same day.

We received the following email from her in April 2011: I had an EKO last week and rate is 44%, up from the 33/35% it was before I received Stemaid's stem cells! . Are the stem cells still available and still as good?

The heart contains a small amount of stem cells, the cardiac stem cells, that are produced when there is a need for production of more heart cells or for an active replacement of damaged ones. These cardiac cells are produced in high quantity for about one week following an infarction, actively repairing the damaged areas of the heart.

However this high production stops after a week and the repair stops as well.

Initial studies showed that by introducing embryonic stem cells, the heart starts to repair again within minutes of their injection. More recent studies showed that the injection of embryonic stem cells actually triggers the production of cardiac stem cells for one week. Another week of active repair is offered each time that one receives embryonic stem cells.

If you have suffered from an infarction, we suggest a minimum of 3 injections of esc over the course of 3 weeks to get significant repair.

Some of the patients who have received Stemaid Embryonic Stem-Cells have agreed to be mentioned on our website so that we may illustrate the benefits of them.

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Heart Disease - Stemaid : Embryonic Stem-cells

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Plant and fruit stem cells are in bloom as ingredients du jour in a new generation of anti-aging skin care products.

What exactly are stem cells? Stem cells are in all living things: plants, animals, and humans. Theyre the most basic type of cells, kind of like the raw materials from which all other cells are made. Stem cells are able to develop into many different kinds of cells and are able to divide and regenerate for extended periods of time, making them a potential treasure trove for regenerating the body. In the past decade, human stem cells have been the subject of a lot of debate. But scientists have recently found a way to tap the healing and rejuvenating benefits of stem cells without all the ethical baggage: extract them from plants and fruits.

What can plant stem cells do for skin? Skin cells grow and die at a surprisingly fast rate, turning over about every month. With constant assaults from free radicals, UV rays, environmental toxins, and debased nutrition, every time our skin cells turn over, they run the risk of damage and mutation. Plus, with age, stem cells become depleted and turnover rate slows down. The result? Visible aging, wrinkles, and less-than lustrous skin. Supplying the skin with a fresh batch of stem cells could potentially allow for the creation of new, younger-looking skin. Could scientists have found the fountain of youth?

Do plant stem cells actually work? It depends on whom you ask. Cosmetic companies tout compelling information about plant and fruit stem cells miracles. And some studies, albeit limited, show that plant and fruit stem cells have the ability to stimulate the growth of human stem cells and protect human stem cells from UV damage and oxidative stress that causes aging. In time, the hopeful science of stem cell research may become something tried and true. In the meantime, many of the natural formulas that tout plant and fruit stem cells are also loaded with skin-beneficial ingredients with demonstrated anti-aging effects such as antioxidant vitamin C, collagen-building peptides, and nourishing plant oilsthe whole of which may be more than the sum of their parts.

Check out these plant and fruit stem cell products that can renew and regenerate your skin:

Juice Beauty Stem Cellular Repair Moisturizer contains a proprietary blend of fruit stem cells to repair DNA and encourage new cell growth along with its signature antioxidant-rich fruit juice base, vitamin C, and hydrating plant oils. 1.7 fl oz, $65, juicebeauty.com

La Prairie Cellular Power Infusion is an ultra-deluxe formula infused with Swiss Red Grape stem cells to protect skins own stem cells, Swiss Snow Algae to activate longevity of cells, and an exclusive peptide to renew skin cells. 4 x 0.26 fl oz, $475, shoplaprairie.com

MyChelle Apple Brightening Serum combines PhytoCellTec apple stem cells to regenerate skin, and unique peptides to diminish sunspots as well as aid in UVA and UVB damage recovery. 1 fl oz, $44.30, mychelle.com

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Plant Stem Cells for Beauty | Women's Health Magazine

Recommendation and review posted by Bethany Smith

Quotes are real-time for NASDAQ, NYSE, and NYSE MKT. See also delay times for other exchanges. All information provided "as is" for informational purposes only, not intended for trading purposes or advice. Neither Yahoo! nor any of independent providers is liable for any informational errors, incompleteness, or delays, or for any actions taken in reliance on information contained herein. By accessing the Yahoo! site, you agree not to redistribute the information found therein.

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VIVO: Summary for Meridian Bioscience Inc.- Yahoo! Finance

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IPS Stem Cells: New Ethical Quandaries By Sally Lehrman

Listen to the Audio

When scientists learned how to turn back the clock in a young skin cell, to bring it back to an early-stage cell that could become any other type in the body, both they and ethicists rejoiced. The reprogrammed cell was pluripotent, much like an embryonic stem cell. Maybe even better, it also might be prompted to jump from one cell type to another.

One day, these induced pluripotent stem cells -- iPS cells for short -- might be able to correct any number of life-threatening and disabling conditions. Much sooner, these cells will almost certainly serve as extremely useful models for studying disease.

The researchers used viruses to deliver three to four new genes into the cell nucleus. And with the new information, the skin cells reprogrammed themselves. They behaved almost exactly like embryonic stem cells, which are derived from fertilized eggs. But with these reprogrammed cells, people thought, there would be no moral and political controversy. No embryo would be destroyed.

Recently, new studies have taken the work a step further. Researchers used synthetic RNA instead of viruses to get new instructions into the cell nucleus. This sped up the process and lessened the possibility of side effects such as cancer when the cells finally become a treatment for patients. (They're called RNA-induced pluripotent cells.)

But as researchers and ethicists take a closer look at these iPS cells, they are realizing that the issues posed are as thorny as ever. In fact, the issues may be even more urgent because the new techniques are so much easier and cheaper. The concerns fall into three main areas.

First, the possibility of human cloning from one person's skin cells or human reproduction from cells made into sperm and egg. The possibility is far-off, but real. Scientists already have reported progress that could lead to either. One could become a parent at any age, using tissue from someone either living or dead.

More immediate concerns have to do with control of the original tissue donation and the purposes to which it is applied.

For instance, privacy. Because of the desire to use these cells to study or treat diseases such as Parkinson's, juvenile diabetes or Alzheimer's, it will be important to know the donor's health history. The donor's personal information and health history must always be linked to the cells. It may be impossible to maintain donor privacy.

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IPS Stem Cells: New Ethical Quandaries

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Hypopituitarism is a general term that refers to any under function of the pituitary gland. This is a clinical definition used by endocrinologists and is interpreted to mean that one or more functions of the pituitary are deficient. The term may refer to both anterior and posterior pituitary gland failure.

Deficient pituitary gland function can result from damage to either the pituitary or the area just above the pituitary, the hypothalamus. The hypothalamus contains releasing and inhibitory hormones which control the pituitary. Since these hormones are necessary for normal pituitary function, damage to the hypothalamus can also result in deficient pituitary gland function. Injury to the pituitary can occur from a variety of insults, including damage from an enlarging pituitary tumor, irradiation to the pituitary, pituitary apoplexy, trauma and abnormal iron storage (hemochromatosis). With increasing damage there is a progressive decrease in function. There appears to be a predictable loss of hormonal function with increasing damage. The progression from most vulnerable to least vulnerable is usually as follows: first is growth hormone (GH), next the gonadotropins (LH and FSH which control sexual/reproductive function), followed by TSH (which control thyroid hormone release) and finally the last to be lost is typically ACTH (which controls adrenal function).

Sheehan's syndrome is a condition that may occur in a woman who has a severe uterine hemorrhage during childbirth. The resulting severe blood loss causes tissue death in her pituitary gland and leads to hypopituitarism following the birth. For more on this Sheehan's syndrome, please visit MedlinePlus on Sheehan's Syndrome.

Deficiency of ACTH resulting in cortisol deficiency is the most dangerous and life threatening of the hormonal deficiency syndromes. With gradual onset of deficiency over days or weeks, symptoms are often vague and may include weight loss, fatigue, weakness, depression, apathy, nausea, vomiting, anorexia and hyperpigmentation. As the deficiency becomes more serious or has a more rapid onset, (Addisonian crisis) symptoms may include confusion, stupor, psychosis, abnormal electrolytes (low serum sodium, elevated serum potassium), and vascular collapse (low blood pressure and shock) which can be fatal. Treatment consists of cortisol administration or another similar steroid (like prednisone). For patients with acute adrenal insufficiency (Addisonian crisis), rapid intravenous administration of high dose steroids is essential to reverse the crisis.

Deficiency of thyroid hormone causes a syndrome consisting of decreased energy, increased need to sleep, intolerance of cold (inability to stay warm), dry skin, constipation, muscle aching and decreased mental functions. This constellation of symptoms is very uncomfortable and is often the symptom complex that drives patients with pituitary disease to seek medical attention. Replacement therapy consists of a daily pill called thyroxine (Synthroid, Levothyroxine etc). The correct dose is determined through blood tests.

Women develop ovarian suppression with irregular periods or absence of periods (amenorrhea), infertility, decreased libido, decreased vaginal secretions, breast atrophy, and osteoporosis. Blood levels of estradiol are low. Estrogen should be replaced and can be given orally as Premarin or estrace, or can be given as a patch applied twice weekly. Women taking estrogen also need to take progesterone replacement (unless they have undergone a hysterectomy). Annual pap smears and mammograms are mandatory.

Men develop testicular suppression with decreased libido, impotence, decreased ejaculate volume, loss of body and facial hair, weakness, fatigue and often anemia. On testing, blood levels of testosterone are low and should be replaced. In the United States, testosterone may be given as a bi-weekly intramuscular injection, a patch form, or a gel preparation. In other countries, oral preparations of testosterone are available.

Growth hormone is necessary in children for growth, but also appears necessary in adults to maintain normal body composition (muscle and bone mass). It may also be helpful for maintaining an adequate energy level, optimal cardiovascular status and some mental functions. Symptoms of GH deficiency in adults include fatigue, poor exercise performance and symptoms of social isolation. GH is only available in injectable form and must be given 6-7 times per week.

This problem arises from damage to the pituitary stalk or the posterior pituitary gland. It may occur transiently after transsphenoidal surgery but is rarely permanent. Patients with diabetes insipidus have increased thirst and urination. Replacement of antidiuretic hormone resolves these symptoms. Antidiuretic hormone (ADH) is currently replaced by administration of DDAVP (also called Desmopressin) a synthetic type of ADH. DDAVP can be given by subcutaneous injection, intranasal spray, or by tablet, usually once or twice a day.

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Pituitary Network Association - Disorders - Hypopituitarism

Recommendation and review posted by Bethany Smith

Although advances in genetic testing have improved doctors' ability to diagnose and treat certain illnesses, there are still some limits. Genetic tests can identify a particular problem gene, but can't always predict how severely that gene will affect the person who carries it. In cystic fibrosis, for example, finding a problem gene on chromosome number 7 can't necessarily predict whether a child will have serious lung problems or milder respiratory symptoms.

Also, simply having problem genes is only half the story because many illnesses develop from a mix of high-risk genes and environmental factors. Knowing that you carry high-risk genes may actually be an advantage if it gives you the chance to modify your lifestyle to avoid becoming sick.

As research continues, genes are being identified that put people at risk for illnesses like cancer, heart disease, psychiatric disorders, and many other medical problems. The hope is that someday it will be possible to develop specific types of gene therapy to totally prevent some diseases and illnesses.

Gene therapy is already being used studied as a possible way to treat conditions like cystic fibrosis, cancer, and ADA deficiency (an immune deficiency), sickle cell disease, hemophilia, and thalassemia. However, severe complications have occurred in some patients receiving gene therapy, so current research with gene therapy is very carefully controlled.

Although genetic treatments for some conditions may be a long way off, there is still great hope that many more genetic cures will be found. The Human Genome Project, which was completed in 2003, identified and mapped out all of the genes (about 25,000) carried in our human chromosomes. The map is just the start, but it's a very hopeful beginning.

Reviewed by: Larissa Hirsch, MD Date reviewed: April 2014 Originally reviewed by: Louis E. Bartoshesky, MD, MPH

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Genetics and Genetic Testing - KidsHealth

Recommendation and review posted by Bethany Smith

How does CDI's technology work? A human biological sample, for example blood or skin, is obtained, and the cells within the sample are grown under appropriate cell culture conditions. In the episomal reprogramming method, vectors containing multiple reprogramming genes are introduced into the cells.

While the vectors turn genes in the cell on and off, reprogramming them to a stem cell state, they do not integrate into the genome itself. This method alleviates concerns arising over the potential risks associated with the insertion of foreign DNA to induce reprogramming, which other prior iPS methods use (bottom row in illustration above).

iPS cells are somatic cells (e.g., skin or blood) that have been genetically reprogrammed to a pluripotent stem cell state through forced expression of pluripotency genes.By definition, iPS cells replicate indefinitely and have the potential to differentiate into any cell type in the human body.

Reprogramming factors are the genes introduced into somatic cells that induce a pluripotent stem cell state. Initial reports describing the creation of human iPS cells utilized four reprogramming factors: OCT4, SOX2, KLF4 and MYC (OSKM) (Takahashi, et al. 2007) or OCT4, SOX2, NANOG and LIN28 (OSNL) (Yu, et al. 2007). Subsequent studies revealed that reprogramming using a specific combination of all 6 of these factors combined with SV40LT and a cocktail of small molecules yields iPS cells at much higher efficiency (Yu, et al. 2009; Yu, et al. 2011).

iPS cells are genetically reprogrammed through forced expression of pluripotency genes into somatic cells.The expression of these genes can be accomplished using a variety of different methods.The episomal reprogramming method introduces pluripotency genes into a target cell using circular DNA plasmid vectors (i.e. episomes) that replicate autonomously within the cell cytoplasm and do not integrate into the host cell genome.

Initial methods of iPS cell reprogramming utilized retroviral and lentiviral vectors to introduce pluripotency genes into somatic cells. While these methods generally work well, the viral DNA integrates into the genome of the target cell, and the resulting iPS cells (and cells differentiated from them) will contain foreign DNA, which may result in defects and errors. By contrast, episomal vectors replicate autonomously within the cell cytoplasm and do not integrate into the host genome. In addition, the episomal vectors are released from the target cell at a rate of ~5% per cell cycle resulting in transgene-free or footprint-free iPS cells.These features, combined with recent advancements in episomal reprogramming efficiency, have led to a strong preference for this method to alleviate concerns about genome integrity for drug discovery and cell therapy applications.

Episomal reprogramming has been reported successful from a variety of somatic cells, including fibroblasts, lymphoblastoid cells, and peripheral blood mononuclear cells. Importantly, CDI has optimized its episomal reprogramming method to achieve high efficiency iPS cell generation from small amounts of human peripheral blood. Not only does this enable more streamlined and less invasive collection of donor samples, but ensures increased sterility and lower cost production of iPS cells. In addition, efficient iPS cell production from peripheral blood enables access to large banks of normal and disease-associated clinical samples for disease research and drug screening.

CDIs suite of MyCell Products includes episomal reprogramming of customer-provided donor samples and subsequent genetic engineering and/or differentiation of the iPS cells. In addition, for researchers who would like to generate their own iPS cells, CDIs episomal reprogramming technology is available as a kit from Life Technologies, including Episomal iPSC Reprogramming Vectors, Vitronectin, and Essential 8 Medium. Customer-generated iPS cells using this kit may then be transferred to CDI for genetic engineering and/or differentiation through MyCell Products.

Integration-free iPS cells have been generated using a variety of methods including adenovirus, Sendai virus, piggyBac, minicircle vectors, and direct introduction of protein or synthesized mRNA. The efficiency and success rate of these methods varies depending on the source of somatic cells and experimental conditions, but in general these approaches are limited by impractically low reprogramming efficiency, requirement for higher biosafety containment, and/or labor- and cost-intensive protocols that require repeated transfection/infection.Compared to these methods, episomal reprogramming is virus-free, safe to use, stable, and inexpensive.

A variety of small molecules have been identified that can functionally substitute for one or more reprogramming factors and/or improve the efficiency of iPS cell reprogramming. However, no combination of small molecules has been shown to functionally substitute for all four reprogramming factors. The use of small molecules in iPS cell reprogramming offers some practical advantages including the ability to optimize the chemical structure, fine-tune dose and concentration, and simplify handling and application protocols. However, the use of small molecules presents a number of scientific challenges. Most notably, small molecules may have more than one target, which may or may not be known. In addition, unexpected toxicity and other side effects in vivo may interfere with the clinical application of small molecules.

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CDI | iPS Cells - Cellular Dynamics | Home

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Components of an Anti-inflammatory Diet (focus on meats, fish, eggs and leafy vegetables) Note: All food is unhealthy without gut bacteria adapted to the food. See other posts on repair of gut flora. Low starch and other simple sugars -- insulin and high blood glucose are inflammatory; so use complex polysaccharides (not starch); starch only in small portions (1/2 banana or one side of a hamburger bun) and preferably in unprocessed, less available forms, e.g. coarse ground or fat coated -- bread with butter; less than 30 gm in any meal, less is healthier, grains are frequently a problem -- gluten intolerance No high fructose corn syrup -- high free fructose (in contrast to sucrose) is inflammatory and contributes to crosslinking of collagen fibers, which means prematurely aged skin; sucrose is much better than alternative sweeteners High ratio of omega-3 to omega-6 fats -- most vegetable oils (olive oil is the exception) are very high in omega-6 fats and are inflammatory and should be avoided; omega-3 fats from fish oil cannot have their full anti-inflammatory impact in the presence of vegetable oils; omega-3 supplements are needed to overcome existing inflammation -- take with saturated fats No trans fats -- all are inflammatory Probiotics and prebiotics -- the bacteria in your gut are vitally important in reducing inflammation; most of the bacteria that initially colonize breastfed babies and are also present in fermented products seem to be helpful; formula quickly converts baby gut bacteria to inflammatory species and should be avoided completely for as long as possible to permit the babys immune system to mature (at least 6 months exclusive breastfeeding.) Saturated fatsare healthy and reduce the peroxidation of omega-3 fatty acids at sites of local inflammation, e.g. fatty liver. Saturated fats should be the major source of dietary calories. Vegetable antioxidants -- vegetables and fruits, along with coffee and chocolate supply very useful, anti-inflammatory anti-oxidants Sensible daily supplements: 1,000 mg vitamin C; 2,000-5,000 i.u vitamin D3 (to produce serum levels of 60ng/ml); 750 mg glucosamine Associated anti-inflammatory lifestyle components:

exercise (cardiovascular and muscle building),

minimizing body fat,

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Cooling Inflammation: Anti-inflammatory Diet

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Resources What is Genetic Counseling?

By Amy Adams, MS

Reviewed by Kari Danziger, MS, CGC; Jennifer Graham, MS, CGC; Larry Prensky, MS, CGC, CCGC Last Updated April 11, 2011

Every day researchers are learning more about the genetics of common diseases and how those diseases run in families. If you have an inherited disease in your family, a genetic counseling session can help you understand your personal risk or the risk for other family members. It can also help you learn what testing, surveillance, prevention strategies, or research trials may be right for your situation. In most cases, a genetic counselor will lead the session, but some nurses, doctors, and medical geneticists are also trained to do genetic counseling.

Traditionally, a genetic counselor has a masters degree in genetic counseling and has studied genetic diseases and how those diseases run in families. The genetic counselor can help a person or family understand their risk for genetic conditions (such as cystic fibrosis, cancer, or Down syndrome), educate the person or family about that disease, and assess the risk of passing those diseases on to children.

A genetic counselor will often work with families to identify members who are at risk. If it is appropriate, they will discuss genetic testing, coordinate any testing, interpret test results, and review all additional testing, surveillance, surgical, or research options that are available to members of the family.

Genetic counselors often work as part of a health care team in conjunction with specially trained doctors, social workers, nurses, medical geneticists, or other specialists to help families make informed decisions about their health. They also work as patient advocates, helping individuals receive additional support and services for their health care needs.

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Any person who may have a genetic condition, has a family history of an inherited disease, or has other risk factors for a genetic condition or birth defect may benefit from seeing a genetic counselor. If a person's family history indicates the possibility of an inherited disease, their doctor may give them a referral. Some pregnant women may also be referred to genetic counselors to receive counseling about the risks of birth defects or for help in interpreting test results. Pregnant women older than 35 are especially likely to see a genetic counselor because it is standard for them to be offered amniocentesis due to their increased risk of having a baby with a chromosomal abnormality such as Down syndrome.

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What Is Genetic Counseling?

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Hypogonadism can begin during fetal development, before puberty or during adulthood. Signs and symptoms depend on when the condition develops.

If the body doesn't produce enough testosterone during fetal development, the result may be impaired growth of the external sex organs. Depending on when hypogonadism develops and how much testosterone is present, a child who is genetically male may be born with:

Male hypogonadism may delay puberty or cause incomplete or lack of normal development. It can cause:

In adult males, hypogonadism may alter certain masculine physical characteristics and impair normal reproductive function. Signs and symptoms may include:

Hypogonadism can also cause mental and emotional changes. As testosterone decreases, some men may experience symptoms similar to those of menopause in women. These may include:

See a doctor if you have any symptoms of male hypogonadism. Establishing the cause of hypogonadism is an important first step to getting appropriate treatment.

Mayo Clinic is a not-for-profit organization. Make a difference today.

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Male hypogonadism Symptoms - Mayo Clinic

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A disruptive technology that saves lives and improves patient care Main menu Marx Biotechnology is developing a proprietary first-in-class molecular diagnostic kit for the early detection of Graft versus Host Disease (GVHD). GVHD is a life threatening complication of allogeneic (non-self) stem cell transplantation such as bone marrow, peripheral blood or cord blood transplantation

and solid organ transplantations. The cells from the donor react

adversely to the cells in the patient. GVHD affects approximately 50% of all such transplant patients, frequently resulting in death. https://www.youtube.com/watch?v=c_8PcfZSkrI Marx Bios approach has 5 clear advantages:

Incorporated in Jerusalem in January 2011, the Marx Bio team has completed proof of concept in animal studies, has published in a peer reviewed journal, and has filed three patents. It is commencing a Phase 1 clinical trial in humans in Tel Aviv.

Marx Bio has a clear work schedule to deliver a validated and cleared product, ready for market entry within 36 to 48 months. The company is looking for strategic partners to join in that journey.

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Marx Biotechnology A disruptive technology that saves ...

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A Revolutionary Skincare System that Combats the Visible Signs of Aging

The RG-CELL line was developed by a renowned South Korean Master Herbalist, and is the first line of cosmeceuticals to use several naturally occurring, scientifically proven skin cell activating, correcting and reconstructing ingredients together in one range of products. All products in the RG-CELL AGELESS COMPLETE Skin Care Regimen contain EGF (Epidermal Growth Factor) or Human Oligopeptide-1 and AFA Algae, a Natural Retinoid Alternative. These high powered ingredients are expertly blended along with scientifically proven botanical and herbal skincare essentials that have been utilized for centuries and have stood the test of time.

Fashioned after the Korean skincare philosophy of nurturing the skin and treating it as a treasured possession, RG-CELL advocates prevention, protection and perfection utilizing the highest quality ingredients we can source from throughout the globe. We formulate these ingredients using Korean medicinal theories and apply them with processes that combine traditional with modern, cutting edge technologies to present a product that enables the skins maximum absorption of the active ingredients.

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Stem Cell Skin Care, Anti-Aging, Facial Cleansers ...

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Personalized medicine and pharmacogenomics Pharmacogenomics holds the promise that drugs might one day be tailored to your genetic makeup. By Mayo Clinic Staff

Modern medications save millions of lives a year. Yet any one medication might not work for you, even if it works for other people. Or it might cause severe side effects for you but not for someone else.

Your age, lifestyle and health all influence your response to medications. But so do your genes. Scientists are working to match specific gene variations with responses to particular medications.

With that information, doctors can tailor treatments to individuals. That's what pharmacogenomics is all about. Part of a new field called personalized medicine, pharmacogenomics offers the promise of predicting whether a medication is likely to help or hurt you before you ever take it.

Imagine you've had a heart attack and your doctor wants to give you medication to lower your risk of having another. Taking into account such factors as your weight, age and medical history, your doctor might prescribe a blood-thinning drug to help prevent blood clots from causing another heart attack.

Without testing, neither you nor your doctor knows exactly how you'll react to the medication. It may not work for you, or you may have serious side effects such as bleeding. You might have to try different doses or even different medications before finding a treatment that works for you.

Pharmacogenomics speeds up that process. Before you take a single dose of medication, you can have a test to see how you're likely to respond to the medication. With that information, your doctor can tailor the dose or avoid that drug entirely and prescribe a different one.

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Personalized medicine and pharmacogenomics - Mayo Clinic

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May 23, 2015 - Scientists Meet in Louisville to Share Research That Could Improve Treatments for Spinal Cord, Head Injury

LOUISVILLE, Ky. (5/23/15) More than a dozen leading basic scientists from around the nation and the world studying neurological function made presentations to 160 fellow researchers in Louisville Wednesday and Thursday. The goal? To facilitate collaborations that will advance science leading to improved spinal cord and head injury rehabilitation. Scientists from Sweden, Canada and Continue Reading

A new thought-controlled robotic arm taps into a different part of the brain than most, which its creators say may give its paralyzed users an easier learning curve and allow for more fluid movements. They report on the success of their first patient, Erik G. Sorto, in a paper published Thursday in Science. When Sorto, Continue Reading

Erik Sorto, a 34-year old American, has been unable to move his arms or legs for more than a decade, since a gunshot wound left him paralysed from the neck down. Even now, he misses the little things. I want to be able to drink my own beer to be able to take a Continue Reading

Clinton Township Charlie Parkhill talks with his hands. Its remarkable, given that 17 years ago, an accident left him unable to move his body below his neck. Parkhill was a CPA with his own business when, in 1998, he went on vacation with his wife to Mexico. While he was coming out of the Continue Reading

The first two patients to receive InVivos Neuro-Spinal Scaffold for spinal cord injury are showing improvement three-to-six months after surgery. The first spinal cord injury patient was treated in October 2014 at Barrow Neurological Institute in Phoenix and the second was treated in January 2015 at Carolinas Medical Center in Charlotte.

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Spinal Cord Injury Zone

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Hypopituitarism in Children Hypopituitarism in Children Overview

The pituitary is a small gland located at the base of the brain, roughly in the space between your eyes. It is responsible for the regulation and secretion of a number of different hormones both in adults and in children. These are described in detail below.

Hypopituitarism is a condition in which the pituitary gland does not produce enough of one or more of these hormones. This condition may occur because of disease in the pituitary gland or hypothalamus (a part of the brain that controls the pituitary gland). When there is low or no production of all the pituitary hormones, the condition is called hypopituitarism. Hypopituitarism can occur at any age.

The pituitary gland sends signals to other glands to produce hormones (for example, it makes thyroid stimulating hormone (TSH - which regulates production of thyroid hormone by the thyroid gland). The hormones released by the pituitary and other glands have a significant impact on important bodily functions, such as growth, reproduction, blood pressure, and metabolism (the physical and chemical processes of the body). When levels of one or more of these hormones are not properly balanced, the body's normal functions can be affected.

The pituitary gland produces several hormones.

In hypopituitarism, the level of one or more of these pituitary hormones is insufficient. The lack of hormone results in a loss of function of the gland or organ that it controls.

The most common pituitary hormone deficiency is growth hormone deficiency. In the United States, growth hormone deficiency occurs rarely with a frequency of less than 1 in 3,480 children.

Medically Reviewed by a Doctor on 6/23/2014

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Hypopituitarism in Children: Get Information About Symptoms

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Hypopituitary Hypopituitary Overview

Hypopituitarism is a condition in which the pituitary gland (a small gland at the base of the brain) does not produce one or more of its hormones or not enough of them. This condition may occur because of disease in the pituitary or hypothalamus (a part of the brain that contains hormones that control the pituitary gland). When there is low or no production of all the pituitary hormones, the condition is called panhypopituitarism. This condition may affect either children or adults.

The pituitary gland sends signals to other glands (eg, thyroid gland) to produce hormones (eg, thyroid hormone). The hormones produced by the pituitary gland and other glands have a significant impact on the bodys functions, such as growth, reproduction, blood pressure, and metabolism (the physical and chemical processes of the body). When one or more of these hormones is not produced properly, the bodys normal functions can be affected. Some of the hormones like cortisol and thyroid hormone may require prompt treatment, whereas others may not be life threatening.

The pituitary gland produces several hormones. Some of the important hormones are as follows:

In hypopituitarism, one or more of these pituitary hormones is missing. The lack of hormone results in a loss of function of the gland or organ that it controls.

Medically Reviewed by a Doctor on 7/30/2014

Medical Author:

James R Mulinda, MD, FACP, FACE

Medical Editor:

Arthur B Chausmer, MD, PhD, FACP, FACE, FACN, CNS

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Hypopituitary: Learn Hypopituitarism Causes and Symptoms

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