Klinefelter Syndrome
Sperm Retrieval
Sex Chromosome Disorders
Gynecomastia
Chromosomes, Human, X
Sex Chromosome Aberrations
Chromosomes, Human, Y
Gonadal Dysgenesis, 46,XX
Primed In Situ Labeling
Aneuploidy
Infertility, Male
Mosaicism
Oligospermia
Breast Neoplasms, Male
Testis
Testosterone
In Situ Hybridization, Fluorescence
Encyclopedias as Topic
Y Chromosome
Germ cell development in the XXY mouse: evidence that X chromosome reactivation is independent of sexual differentiation. (1/226)
Prior to entry into meiosis, XX germ cells in the fetal ovary undergo X chromosome reactivation. The signal for reactivation is thought to emanate from the genital ridge, but it is unclear whether it is specific to the developing ovary. To determine whether the signals are present in the developing testis as well as the ovary, we examined the expression of X-linked genes in germ cells from XXY male mice. To facilitate this analysis, we generated XXY and XX fetuses carrying X chromosomes that were differentially marked and subject to nonrandom inactivation. This pattern of nonrandom inactivation was maintained in somatic cells but, in XX as well as XXY fetuses, both parental alleles were expressed in germ cell-enriched cell populations. Because testis differentiation is temporally and morphologically normal in the XXY testis and because all germ cells embark upon a male pathway of development, these results provide compelling evidence that X chromosome reactivation in fetal germ cells is independent of the somatic events of sexual differentiation. Proper X chromosome dosage is essential for the normal fertility of male mammals, and abnormalities in germ cell development are apparent in the XXY testis within several days of X reactivation. Studies of exceptional germ cells that survive in the postnatal XXY testis demonstrated that surviving germ cells are exclusively XY and result from rare nondisjunctional events that give rise to clones of XY cells. (+info)Birth of a healthy neonate following the intracytoplasmic injection of testicular spermatozoa from a patient with Klinefelter's syndrome. (2/226)
Klinefelter's syndrome is one of the known causes of azoospermia or cryptoazoospermia, and it may present in non-mosaic (47,XXY) or mosaic (47,XXY/46,XY) form. The likelihood of finding spermatozoa in the ejaculate or testicular tissue of patients with mosaic Klinefelter's syndrome is low, and with the non-mosaic form, even lower. We describe a patient with non-mosaic Klinefelter in whom initially non-motile spermatozoa were derived from searching the ejaculate. Ten mature oocytes were injected, but none was fertilized. Subsequently, testicular biopsy was undertaken in order to collect spermatozoa for oocyte injection. Fifteen motile sperm cells were found and injected. Nine oocytes were fertilized and cleaved; three embryos were transferred into the uterine cavity. The woman conceived and following a normal pregnancy delivered a healthy child. Genetic analysis of the neonate disclosed a normal 46,XY karyotype. Non-motile spermatozoa in the ejaculate did not prove their fertilization potential, but their presence did not exclude finding motile, fertile spermatozoa in the testicular tissue in a non-mosaic Klinefelter patient. This report is further evidence that normal spermatozoa with fertilization potential are produced in the testes of patients with Klinefelter's syndrome. (+info)Klinefelter's syndrome in the male infertility clinic. (3/226)
The clinical features of patients with Klinefelter's syndrome attending a male infertility clinic have been investigated in order to consider their assisted reproduction treatment options. Over 12 years, a total of 148 patients with sterility due to azoospermia had Klinefelter's syndrome. Eight patients were shown by fluorescence in-situ hybridization (FISH) on metaphase spreads to be mosaic (46,XY/47,XXY), and 140 patients showed only 47,XXY. Small testes were observed in 95% of patients and gynaecomastia was seen in 12.4%. Half of the patients showed hypergonadotrophic hypogonadism, while others showed normogonadism (usually hypergonadotrophic). Spermatozoa were observed in semen from one patient with mosaicism and one without. Three-colour FISH revealed hyperploidy in 2.7% and 2.3% of these spermatozoa respectively. Multiple-site testicular biopsies in five recent patients were performed and yielded a specimen with round and elongated spermatids in one patient with 47,XXY karyotype. This sample was cryopreserved for future intracytoplasmic sperm injection. At follow-up, 46% of couples had chosen artificial insemination with donor sperm, and none had chosen adoption. Two patients developed testicular tumours, one a mature teratoma and the other a Leydig cell tumour. Two patients required androgen replacement therapy. (+info)Fertilization and pregnancy outcome with intracytoplasmic sperm injection for azoospermic men. (4/226)
The evident ability of the intracytoplasmic sperm injection (ICSI) procedure to achieve high fertilization and pregnancy rates regardless of semen characteristics has induced its application with spermatozoa surgically retrieved from azoospermic men. Here, ICSI outcome was analysed in 308 cases according to the cause of azoospermia; four additional cycles were with cases of necrozoospermia. All couples were genetically counselled and appropriately screened. Spermatozoa were retrieved by microsurgical epididymal aspiration or from testicular biopsies. Epididymal obstructions were considered congenital (n = 138) or acquired (n = 103), based on the aetiology. Testicular sperm cases were assessed according to the presence (n = 14) or absence (n = 53) of reproductive tract obstruction. The fertilization rate using fresh or cryopreserved epididymal spermatozoa was 72.4% of 911 eggs for acquired obstructions, and 73.1% of 1524 eggs for congenital cases; with clinical pregnancy rates of 48.5% (50/103) and 61.6% (85/138) respectively. Spermatozoa from testicular biopsies fertilized 57.0% of 533 eggs in non-obstructive cases compared to 80.5% of 118 eggs (P = 0.0001) in obstructive azoospermia. The clinical pregnancy rate was 49.1% (26/53) for non-obstructive cases and 57.1% (8/14) for testicular spermatozoa obtained in obstructive azoospermia, including three established with frozen-thawed testicular spermatozoa. In cases of obstructive azoospermia, fertilization and pregnancy rates with epididymal spermatozoa were higher than those achieved using spermatozoa obtained from the testes of men with non-obstructive azoospermia. (+info)Meiotic aneuploidy in the XXY mouse: evidence that a compromised testicular environment increases the incidence of meiotic errors. (5/226)
Male mammals with two X chromosomes are sterile due to the loss of virtually all germ cells in the differentiating testis. The survival of rare germ cells, however, can give rise to patches of normal-appearing spermatogenesis in the adult testis. Intracytoplasmic sperm injection (ICSI) makes possible the establishment of a pregnancy using spermatozoa from severely oligozoospermic men and, indeed, has been successful using spermatozoa from human 47,XXY (Klinefelter syndrome) males. The risk of an abnormal pregnancy, however, may be significantly increased since several studies have demonstrated elevated levels of aneuploidy in spermatozoa from Klinefelter syndrome men. This has been suggested to reflect the consequences of meiotic segregation in XXY germ cells; however, it is also possible that it is a consequence of abnormalities in meiotic regulation in the XXY testis. We have addressed this question experimentally in the XXY male mouse. Analysis of testicular spermatozoa from XXY and control males demonstrates a significant increase in meiotic aneuploidy in the XXY mouse. Since previous studies have demonstrated that germ cells in the adult XXY testis are exclusively XY, the meiotic abnormalities observed must be attributable to segregation errors in XY germ cells. These findings have potential significance for ICSI pregnancies using spermatozoa from other types of male factor infertility patients, since they raise the possibility that increased meiotic errors are a generalized feature of the severely oligozoospermic testis. (+info)Developmental and genetic disorders in spermatogenesis. (6/226)
The most common cause of male infertility is idiopathic. Fresh insights based on genetic and molecular analysis of the human genome permit classification of formerly unexplained disorders in spermatogenesis. In this article, we review new procedures that expand diagnostic and therapeutic approaches to male infertility. Recombinant DNA technology makes it possible to detect specific chromosomal and/or genetic defects among infertile patients. The identification of genes linked to disorders in spermatogenesis and male sexual differentiation has increased exponentially in the past decade. Genetic defects leading to male factor infertility can now be explained at the molecular level, even though the germ cell profile of infertile patients is too variable to permit classification of the clinical phenotype. Increasing knowledge of genes that direct spermatogenesis provides important new information about the molecular and cellular events involved in human spermatogenesis. Molecular analysis of chromosomes and/or genes of infertile patients offers unique opportunities to uncover the aetiology of genetic disorders in spermatogenesis. Increasing numbers of cases, previously classified as idiopathic, can now be diagnosed to facilitate the treatment of infertile men. Advanced knowledge also poses ethical dilemmas, since children conceived with assisted reproductive technologies such as intracytoplasmic sperm injection (ICSI) are at risk for congenital abnormalities, unbalanced complements of chromosomes and male infertility. (+info)Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases. (7/226)
A cytogenetic study was performed on 4,117 Korean patients referred for suspected chromosomal abnormalities. Chromosome aberrations were identified in 17.5% of the referred cases. The most common autosomal abnormality was Down syndrome and Turner syndrome in abnormalities of sex chromosome. The proportions of different karyotypes in Down syndrome (trisomy 21 92.5%, translocation 5.1%, mosaic 2.4%) were similar to those reported in other countries. However, it was different in Turner syndrome (45, X 28.1%, mosaic 50.8%, 46, X, del (Xq) 4.4%, 46, X, i (Xq) 16.7%), in which proportions of mosaics and isochromosome, 46, X, i(Xq), were higher than those reported in other countries. In structural chromosome aberrations of autosome, translocation was the most common (43.6%), and duplication (21.3%), deletion (14.4%), marker chromosome (7.9%) and ring chromosome (4.0%) followed in order of frequency. Rates of several normal variant karyotypes were also described. Inversion of chromosome 9 was observed in 1.7% of total referred cases. (+info)Klinefelter's syndrome accompanied by mixed connective tissue disease and diabetes mellitus. (8/226)
We report a rare case of Klinefelter's syndrome (KS) with mixed connective tissue disease (MCTD), diabetes mellitus (DM) and several endocrine disorders. A 57-year-old man presented with polyarthritis and tapering fingers with Raynaud's phenomenon on admission. In addition to a karyotype of 47, XXY, a marked restrictive change in respiratory functional test, a myogenic pattern in electromyogram, the positive tests for anti-RNP antibody indicated that this was a case of KS complicated with MCTD. The patients also presented DM with insulin resistance, hyperprolactinemia, slight primary hypothyroidism and hypoadrenocorticism. The mechanism for these coincidences remains to be elucidated. (+info)Klinefelter Syndrome: A genetic disorder in males, caused by the presence of one or more extra X chromosomes, typically resulting in XXY karyotype. It is characterized by small testes, infertility, gynecomastia (breast enlargement), tall stature, and often mild to moderate intellectual disability. The symptoms can vary greatly among individuals with Klinefelter Syndrome. Some men may not experience any significant health problems and may never be diagnosed, while others may have serious medical or developmental issues that require treatment. It is one of the most common chromosomal disorders, affecting about 1 in every 500-1,000 newborn males.
Sperm retrieval is a medical procedure that involves obtaining sperm from a male patient, usually for the purpose of assisted reproduction. This can be indicated in cases where the man has obstructive or non-obstructive azoospermia (absence of sperm in the semen), ejaculatory dysfunction, or other conditions that prevent the successful collection of sperm through conventional means, such as masturbation.
There are several methods for sperm retrieval, including:
1. Testicular sperm aspiration (TESA): A procedure where a fine needle is inserted into the testicle to aspirate (or draw out) sperm.
2. Percutaneous epididymal sperm aspiration (PESA): Similar to TESA, but the needle is inserted into the epididymis, a small structure that stores and transports sperm from the testicle.
3. Microsurgical epididymal sperm aspiration (MESA): A more invasive procedure where an incision is made in the scrotum to directly visualize the epididymis with a surgical microscope, allowing for the careful removal of sperm.
4. Testicular sperm extraction (TESE): Involves making a small incision in the testicle and removing a piece of tissue containing sperm-producing tubules. The tissue is then processed to extract viable sperm.
5. Microdissection testicular sperm extraction (microTESE): A refined version of TESE, where a surgical microscope is used to identify and isolate individual seminiferous tubules containing sperm in men with non-obstructive azoospermia.
The retrieved sperm can then be used for various assisted reproductive techniques, such as intracytoplasmic sperm injection (ICSI), where a single sperm is injected directly into an egg to facilitate fertilization.
Azoospermia is a medical condition where there is no measurable level of sperm in the semen. This means that during ejaculation, the seminal fluid does not contain any sperm cells. Azoospermia can be caused by various factors including problems with testicular function, obstruction of the genital tract, or hormonal imbalances. It is an important cause of male infertility and may require further medical evaluation and treatment to determine the underlying cause and explore potential options for fertility.
There are two types of azoospermia: obstructive azoospermia and non-obstructive azoospermia. Obstructive azoospermia is caused by blockages or obstructions in the genital tract that prevent sperm from being released into the semen, while non-obstructive azoospermia is due to problems with sperm production in the testicles.
In some cases, men with azoospermia may still be able to father children through assisted reproductive technologies such as intracytoplasmic sperm injection (ICSI), where a single sperm is injected directly into an egg for fertilization. However, this will depend on the underlying cause of the azoospermia and whether or not there are viable sperm available for extraction.
Sex chromosome disorders are genetic conditions that occur due to an atypical number or structure of the sex chromosomes, which are X and Y. Normally, females have two X chromosomes (XX), and males have one X and one Y chromosome (XY). However, in sex chromosome disorders, there is a variation in the number or composition of these chromosomes.
The most common sex chromosome disorders include:
1. Turner syndrome (Monosomy X): Occurs when a female has only one X chromosome (45,X). This condition affects about 1 in every 2,500 female births and can lead to short stature, infertility, heart defects, and learning disabilities.
2. Klinefelter syndrome (XXY): Occurs when a male has an extra X chromosome (47,XXY). This condition affects about 1 in every 500-1,000 male births and can lead to tall stature, infertility, breast development, and learning disabilities.
3. Jacobs syndrome (XYY): Occurs when a male has an extra Y chromosome (47,XYY). This condition affects about 1 in every 1,000 male births and can lead to tall stature, learning disabilities, and behavioral issues.
4. Triple X syndrome (XXX): Occurs when a female has an extra X chromosome (47,XXX). This condition affects about 1 in every 1,000 female births and can lead to mild developmental delays and learning disabilities.
5. Other rare sex chromosome disorders: These include conditions like 48,XXXX, 49,XXXXY, and mosaicism (a mixture of cells with different chromosome compositions).
Sex chromosome disorders can have varying degrees of impact on an individual's physical and cognitive development. While some individuals may experience significant challenges, others may have only mild or no symptoms at all. Early diagnosis and appropriate interventions can help improve outcomes for those affected by sex chromosome disorders.
Gynecomastia is a medical term that refers to the benign enlargement of the glandular tissue in male breasts, usually caused by an imbalance of the hormones estrogen and testosterone. It's important to note that gynecomastia is not the same as having excess fat in the breast area, which is called pseudogynecomastia.
Gynecomastia can occur during infancy, puberty, or old age due to natural hormonal changes. Certain medications, medical conditions, and recreational drugs can also cause gynecomastia by affecting hormone levels in the body. In some cases, the exact cause of gynecomastia may remain unknown.
Mild cases of gynecomastia may not require treatment, but severe or persistent cases may be treated with medication or surgery to remove excess breast tissue. It's essential to consult a healthcare professional for an accurate diagnosis and appropriate treatment options if you suspect you have gynecomastia.
A chromosome is a thread-like structure that contains genetic material, made up of DNA and proteins, in the nucleus of a cell. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each cell of the body, with the exception of the sperm and egg cells which contain only 23 chromosomes.
The X chromosome is one of the two sex-determining chromosomes in humans. Females typically have two X chromosomes (XX), while males have one X and one Y chromosome (XY). The X chromosome contains hundreds of genes that are responsible for various functions in the body, including some related to sexual development and reproduction.
Humans inherit one X chromosome from their mother and either an X or a Y chromosome from their father. In females, one of the two X chromosomes is randomly inactivated during embryonic development, resulting in each cell having only one active X chromosome. This process, known as X-inactivation, helps to ensure that females have roughly equal levels of gene expression from the X chromosome, despite having two copies.
Abnormalities in the number or structure of the X chromosome can lead to various genetic disorders, such as Turner syndrome (X0), Klinefelter syndrome (XXY), and fragile X syndrome (an X-linked disorder caused by a mutation in the FMR1 gene).
Sex chromosome aberrations refer to structural and numerical abnormalities in the sex chromosomes, which are typically represented as X and Y chromosomes in humans. These aberrations can result in variations in the number of sex chromosomes, such as Klinefelter syndrome (47,XXY), Turner syndrome (45,X), and Jacobs/XYY syndrome (47,XYY). They can also include structural changes, such as deletions, duplications, or translocations of sex chromosome material.
Sex chromosome aberrations may lead to a range of phenotypic effects, including differences in physical characteristics, cognitive development, fertility, and susceptibility to certain health conditions. The manifestation and severity of these impacts can vary widely depending on the specific type and extent of the aberration, as well as individual genetic factors and environmental influences.
It is important to note that while sex chromosome aberrations may pose challenges and require medical management, they do not inherently define or limit a person's potential, identity, or worth. Comprehensive care, support, and education can help individuals with sex chromosome aberrations lead fulfilling lives and reach their full potential.
Human Y chromosomes are one of the two sex-determining chromosomes in humans (the other being the X chromosome). They are found in the 23rd pair of human chromosomes and are significantly smaller than the X chromosome.
The Y chromosome is passed down from father to son through the paternal line, and it plays a crucial role in male sex determination. The SRY gene (sex-determining region Y) on the Y chromosome initiates the development of male sexual characteristics during embryonic development.
In addition to the SRY gene, the human Y chromosome contains several other genes that are essential for sperm production and male fertility. However, the Y chromosome has a much lower gene density compared to other chromosomes, with only about 80 protein-coding genes, making it one of the most gene-poor chromosomes in the human genome.
Because of its small size and low gene density, the Y chromosome is particularly susceptible to genetic mutations and deletions, which can lead to various genetic disorders and male infertility. Nonetheless, the Y chromosome remains a critical component of human genetics and evolution, providing valuable insights into sex determination, inheritance patterns, and human diversity.
Gonadal dysgenesis, 46,XX is a medical condition where an individual with a 46,XX karyotype has underdeveloped or absent gonads (ovaries). Normally, individuals with a 46,XX karyotype have ovaries that produce female sex hormones and develop into reproductive organs. However, in cases of gonadal dysgenesis, the gonads do not develop properly and may appear as streak gonads, which lack germ cells and are incapable of producing sex hormones or gametes (eggs).
Individuals with 46,XX gonadal dysgenesis often have female external genitalia but may have primary amenorrhea (absence of menstruation) due to the underdeveloped or absent ovaries. They may also have other features such as short stature, webbed neck, and intellectual disability, depending on the underlying cause of the condition.
The underlying causes of 46,XX gonadal dysgenesis can vary, including genetic mutations, chromosomal abnormalities, or exposure to environmental factors during fetal development. Some individuals with this condition may have an increased risk of developing gonadal tumors, so regular monitoring and follow-up care are essential.
Karyotyping is a medical laboratory test used to study the chromosomes in a cell. It involves obtaining a sample of cells from a patient, usually from blood or bone marrow, and then staining the chromosomes so they can be easily seen under a microscope. The chromosomes are then arranged in pairs based on their size, shape, and other features to create a karyotype. This visual representation allows for the identification and analysis of any chromosomal abnormalities, such as extra or missing chromosomes, or structural changes like translocations or inversions. These abnormalities can provide important information about genetic disorders, diseases, and developmental problems.
"Primed In Situ Labeling" (PRINS) is not a widely recognized medical term, but it is a technique used in molecular biology and pathology. Here's a definition of the PRINS technique:
Primed In Situ Labeling (PRINS) is a cytogenetic method that allows for the detection and visualization of specific DNA sequences within chromosomes or interphase nuclei through fluorescence in situ hybridization (FISH). The technique involves denaturing double-stranded DNA in fixed cells, followed by annealing a primer to a specific target sequence. A DNA polymerase then extends the primer, incorporating labeled nucleotides that can be visualized under a fluorescence microscope.
The PRINS technique offers several advantages over traditional FISH methods, including higher sensitivity and specificity, lower background signal, and the ability to analyze multiple targets simultaneously using different colored probes. It is commonly used in the diagnosis and monitoring of various genetic disorders, cancer, and infectious diseases.
Aneuploidy is a medical term that refers to an abnormal number of chromosomes in a cell. Chromosomes are thread-like structures located inside the nucleus of cells that contain genetic information in the form of genes.
In humans, the normal number of chromosomes in a cell is 46, arranged in 23 pairs. Aneuploidy occurs when there is an extra or missing chromosome in one or more of these pairs. For example, Down syndrome is a condition that results from an extra copy of chromosome 21, also known as trisomy 21.
Aneuploidy can arise during the formation of gametes (sperm or egg cells) due to errors in the process of cell division called meiosis. These errors can result in eggs or sperm with an abnormal number of chromosomes, which can then lead to aneuploidy in the resulting embryo.
Aneuploidy is a significant cause of birth defects and miscarriages. The severity of the condition depends on which chromosomes are affected and the extent of the abnormality. In some cases, aneuploidy may have no noticeable effects, while in others it can lead to serious health problems or developmental delays.
XYY karyotype is a chromosomal abnormality where an individual's cells have one extra Y chromosome, resulting in a 47, XYY pattern of sex chromosomes. This condition is also known as Jacob's syndrome or XYY syndrome. Typically, human cells contain 23 pairs of chromosomes, for a total of 46 chromosomes, with one pair being the sex chromosomes (XX in females and XY in males). In an XYY karyotype, there are two Y chromosomes and one X chromosome, which can lead to developmental differences and various health concerns.
Individuals with XYY karyotype may have a higher risk of developing learning disabilities, speech and language delays, and behavioral issues such as attention deficit hyperactivity disorder (ADHD) or autism spectrum disorders. However, many people with XYY karyotype do not experience significant health problems and can lead typical lives with appropriate support and interventions.
It is important to note that an XYY karyotype does not typically affect physical characteristics, and most individuals with this condition are phenotypically male. However, they may be taller than their peers due to the influence of the extra Y chromosome on growth hormones.
A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.
For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.
It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.
Male infertility is a condition characterized by the inability to cause pregnancy in a fertile female. It is typically defined as the failure to achieve a pregnancy after 12 months or more of regular unprotected sexual intercourse.
The causes of male infertility can be varied and include issues with sperm production, such as low sperm count or poor sperm quality, problems with sperm delivery, such as obstructions in the reproductive tract, or hormonal imbalances that affect sperm production. Other factors that may contribute to male infertility include genetic disorders, environmental exposures, lifestyle choices, and certain medical conditions or treatments.
It is important to note that male infertility can often be treated or managed with medical interventions, such as medication, surgery, or assisted reproductive technologies (ART). A healthcare provider can help diagnose the underlying cause of male infertility and recommend appropriate treatment options.
Mosaicism, in the context of genetics and medicine, refers to the presence of two or more cell lines with different genetic compositions in an individual who has developed from a single fertilized egg. This means that some cells have one genetic makeup, while others have a different genetic makeup. This condition can occur due to various reasons such as errors during cell division after fertilization.
Mosaicism can involve chromosomes (where whole or parts of chromosomes are present in some cells but not in others) or it can involve single genes (where a particular gene is present in one form in some cells and a different form in others). The symptoms and severity of mosaicism can vary widely, depending on the type and location of the genetic difference and the proportion of cells that are affected. Some individuals with mosaicism may not experience any noticeable effects, while others may have significant health problems.
Oligospermia is a medical term used to describe a condition in which the semen contains a lower than normal number of sperm. Generally, a sperm count of less than 15 million sperm per milliliter (ml) of semen is considered to be below the normal range.
Oligospermia can make it more difficult for a couple to conceive naturally and may require medical intervention such as intracytoplasmic sperm injection (ICSI) or in vitro fertilization (IVF). The condition can result from various factors, including hormonal imbalances, genetic abnormalities, varicocele, environmental factors, and certain medications.
It's important to note that oligospermia is not the same as azoospermia, which is a condition where there is no sperm present in the semen at all.
Breast neoplasms in males refer to abnormal growths or tumors in the male breast tissue. These neoplasms can be benign (non-cancerous) or malignant (cancerous). While breast cancer is much less common in men than in women, it can still occur and should be taken seriously.
The most common type of breast cancer in men is invasive ductal carcinoma, which starts in the milk ducts and spreads to surrounding tissue. Other types of breast cancer that can occur in men include inflammatory breast cancer, lobular carcinoma, and Paget's disease of the nipple.
Risk factors for developing male breast cancer include age (most cases are diagnosed after age 60), family history of breast cancer, genetic mutations such as BRCA1 or BRCA2, radiation exposure, obesity, liver disease, and testicular conditions such as undescended testicles.
Symptoms of male breast neoplasms may include a painless lump in the breast tissue, skin changes such as dimpling or redness, nipple discharge, or a retracted nipple. If you notice any of these symptoms, it is important to consult with a healthcare professional for further evaluation and treatment.
The term "Fathers" is a general term used to describe male parents or parental figures. It does not have a specific medical definition. In the context of genetics and reproduction, the father is the biological male who contributes his sperm to fertilize an egg, resulting in conception and pregnancy. However, it's important to note that there are many different types of families and parental relationships, and not all fathers are biological parents or male.
The testis, also known as the testicle, is a male reproductive organ that is part of the endocrine system. It is located in the scrotum, outside of the abdominal cavity. The main function of the testis is to produce sperm and testosterone, the primary male sex hormone.
The testis is composed of many tiny tubules called seminiferous tubules, where sperm are produced. These tubules are surrounded by a network of blood vessels, nerves, and supportive tissues. The sperm then travel through a series of ducts to the epididymis, where they mature and become capable of fertilization.
Testosterone is produced in the Leydig cells, which are located in the interstitial tissue between the seminiferous tubules. Testosterone plays a crucial role in the development and maintenance of male secondary sexual characteristics, such as facial hair, deep voice, and muscle mass. It also supports sperm production and sexual function.
Abnormalities in testicular function can lead to infertility, hormonal imbalances, and other health problems. Regular self-examinations and medical check-ups are recommended for early detection and treatment of any potential issues.
Testosterone is a steroid hormone that belongs to androsten class of hormones. It is primarily secreted by the Leydig cells in the testes of males and, to a lesser extent, by the ovaries and adrenal glands in females. Testosterone is the main male sex hormone and anabolic steroid. It plays a key role in the development of masculine characteristics, such as body hair and muscle mass, and contributes to bone density, fat distribution, red cell production, and sex drive. In females, testosterone contributes to sexual desire and bone health. Testosterone is synthesized from cholesterol and its production is regulated by luteinizing hormone (LH) and follicle-stimulating hormone (FSH).
In situ hybridization, fluorescence (FISH) is a type of molecular cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes through the use of fluorescent probes. This technique allows for the direct visualization of genetic material at a cellular level, making it possible to identify chromosomal abnormalities such as deletions, duplications, translocations, and other rearrangements.
The process involves denaturing the DNA in the sample to separate the double-stranded molecules into single strands, then adding fluorescently labeled probes that are complementary to the target DNA sequence. The probe hybridizes to the complementary sequence in the sample, and the location of the probe is detected by fluorescence microscopy.
FISH has a wide range of applications in both clinical and research settings, including prenatal diagnosis, cancer diagnosis and monitoring, and the study of gene expression and regulation. It is a powerful tool for identifying genetic abnormalities and understanding their role in human disease.
An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.
The Y chromosome is one of the two sex-determining chromosomes in humans and many other animals, along with the X chromosome. The Y chromosome contains the genetic information that helps to determine an individual's sex as male. It is significantly smaller than the X chromosome and contains fewer genes.
The Y chromosome is present in males, who inherit it from their father. Females, on the other hand, have two X chromosomes, one inherited from each parent. The Y chromosome includes a gene called SRY (sex-determining region Y), which initiates the development of male sexual characteristics during embryonic development.
It is worth noting that the Y chromosome has a relatively high rate of genetic mutation and degeneration compared to other chromosomes, leading to concerns about its long-term viability in human evolution. However, current evidence suggests that the Y chromosome has been stable for at least the past 25 million years.
Medically, hair is defined as a threadlike structure that grows from the follicles found in the skin of mammals. It is primarily made up of a protein called keratin and consists of three parts: the medulla (the innermost part or core), the cortex (middle layer containing keratin filaments) and the cuticle (outer layer of overlapping scales).
Hair growth occurs in cycles, with each cycle consisting of a growth phase (anagen), a transitional phase (catagen), and a resting phase (telogen). The length of hair is determined by the duration of the anagen phase.
While hair plays a crucial role in protecting the skin from external factors like UV radiation, temperature changes, and physical damage, it also serves as an essential aspect of human aesthetics and identity.
Klinefelter syndrome
Harry Klinefelter
Human genetics
The Focus Foundation
Breast cancer
5β-Dihydrotestosterone
Male infertility
X chromosome
Ricardo López (stalker)
XYY syndrome
1942 in science
Epigenetics of human development
XXXY syndrome
Polyembryoma
Gynecomastia
Hypogonadism
XXXXY syndrome
Digit ratio
XXXYY syndrome
Pedro Spajari
Aleksander Berezkin
Cryopreservation of testicular tissue
Mediastinal germ cell tumor
XXY (film)
Pentasomy X
Tetrasomy X
List of intersex people
XXYY syndrome
Mario Giordano
Intersex
Veronique Renard
Klinefelter syndrome - Wikipedia
Klinefelter syndrome: MedlinePlus Genetics
Klinefelter Syndrome: Practice Essentials, Pathophysiology, Epidemiology
Klinefelter syndrome - Diagnosis and treatment - Mayo Clinic
Klinefelter Syndrome
Klinefelter Syndrome
Information for "Klinefelter's syndrome pathophysiology" - wikidoc
Klinefelter's syndrome
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Klinefelter Syndrome - Children's Health Issues - MSD Manual Consumer Version
Klinefelter Syndrome | Profiles RNS
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Klinefelter's27
- Unfortunately, the infertility aspect of Klinefelter's is rarely treatable, although some Klinefelter males have become Dads thanks to an assisted reproduction technique called ICSI . (sharedjourney.com)
- Hypostatic ulcers in 47,XXY Klinefelter's syndrome. (uchicago.edu)
- PubMed was searched for 'Klinefelter,' 'Klinefelter's,' and 'XXY' in titles and abstracts. (mensfe.net)
- Clinical and therapeutic aspects of Klinefelter's syndrome: sexual function. (mensfe.net)
- Klinefelter's syndrome (KS) is the most common sex chromosomal aberration among men, with estimated prevalence of about 1 in 500 newborn males. (mensfe.net)
- Sexual dysfunction in subjects with Klinefelter's syndrome. (mensfe.net)
- The clinical significance of bone mineral density and testosterone levels in Korean men with non-mosaic Klinefelter's syndrome. (medscape.com)
- Rovenský J. Rheumatic diseases and Klinefelter's syndrome. (medscape.com)
- Genital anomalies in Klinefelter's syndrome. (medscape.com)
- 10th May is Klinefelter's Syndrome Awareness Day in the UK Klinefelter's Syndrome affects 1 in 600 males but 75% are never diagnosed. (ksa-uk.net)
- Men with Klinefelter's syndrome usually start testosterone replacement therapy (TRT) in early adolescence and take it life long. (excelmale.com)
- What are the symptoms of Klinefelter's syndrome? (artfertilityclinics.com)
- Klinefelter Syndrome often referred to as XXY trisomy, XXY syndrome, and Klinefelter's Syndrome is a chromosomal disorder exclusively associated with males having one or more of the X chromosome than the normal 'XY' pattern. (hxbenefit.com)
- What is Turner's and Klinefelter's Syndrome in psychology? (hellovaia.com)
- Although 10% of cases are diagnosed prenatally, two-thirds of people with the condition are unaware they have Klinefelter's Syndrome. (hellovaia.com)
- Klinefelter's Syndrome is when biologically male people (anatomically appear male) have an extra X chromosome, making their chromosome pattern XXY. (hellovaia.com)
- Klinefelter's syndrome is a condition in which men have an extra X chromosome in most of their cells - an XXY pattern instead of the normal XY pattern that most men have. (medwonders.com)
- Would you like to join the Klinefelter's Syndrome support group? (medwonders.com)
- Are you sure you want to be removed from the Klinefelter's Syndrome support group? (medwonders.com)
- Klinefelter's syndrome is best described as a genetic condition that affects the male child only. (premiumessays.net)
- Klinefelter's syndrome can also cause reduced muscle mass, facial hair, enlarged breast tissues and reduced body. (premiumessays.net)
- As earlier mentioned, Klinefelter's syndrome is not noticed until puberty which can come late if the male child has the syndrome. (premiumessays.net)
- The genetic variation of Klinefelter's syndrome cannot be reversed. (premiumessays.net)
- Foresta C, Galeazzi C, Bettella A, Marin P, Rossato M, Garolla A, Ferlin A. Analysis of meiosis in intratesticular germ cells from subjects affected by classic Klinefelter's syndrome. (springer.com)
- Palermo GD, Schlegel PN, Sills ES, Veeck LL, Zaninovic N, Menendez S, Rosenwaks Z. Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter's syndrome. (springer.com)
- is determined in men when reduced testosterone production is suspected, e.g. in hypogonadism, estrogen therapy, chromosome aberrations (as in the Klinefelter's syndrome) and liver cirrhosis. (cdc.gov)
- Transsexual development of a patient with Klinefelter's Syndrome. (bvsalud.org)
Boys with Klinefelter syndrome5
- These treatments can help boys with Klinefelter syndrome who have problems with speech, language and muscle weakness. (mayoclinic.org)
- Some boys with Klinefelter syndrome have trouble learning and socializing and can benefit from extra assistance. (mayoclinic.org)
- Most boys with Klinefelter syndrome have normal or slightly decreased intelligence. (msdmanuals.com)
- Frequency of XY sperm increases with age in fathers of boys with Klinefelter syndrome. (medscape.com)
- Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome. (qxmd.com)
Symptoms14
- The signs and symptoms of Klinefelter syndrome vary. (medlineplus.gov)
- Some Klinefelter males experience symptoms of their condition as boys or teenagers, and they therefore benefit from diagnosis and treatment at an earlier stage. (wdxcyber.com)
- Although some Klinefelter males will exhibit symptoms of the condition from boyhood, many don't realize that they have the condition until they try as adults to become fathers. (sharedjourney.com)
- Treatments are available for some symptoms of Klinefelter syndrome - for example, testosterone therapy can help men who have some feminine features. (sharedjourney.com)
- Klinefelter syndrome is named after Dr. Henry Klinefelter, who first described a group of symptoms found in some men with the extra X chromosome. (doctors.am)
- Even though all men with Klinefelter syndrome have the extra X chromosome, not every XXY male has all of those symptoms. (doctors.am)
- Because not every male with an XXY pattern has all the symptoms of Klinefelter syndrome, it is common to use the term XXY male to describe these men, or XXY condition to describe the symptoms. (doctors.am)
- What are the symptoms of Turner syndrome and Klinefelter syndrome symptoms? (hellovaia.com)
- Turner Syndrome and Klinefelter Syndrome symptoms present quite differently from one another. (hellovaia.com)
- Klinefelter syndrome has physical, psychological, and behavioural symptoms. (hellovaia.com)
- Here are the symptoms of Turner syndrome. (hellovaia.com)
- Effects of the syndrome will vary from one individual to another and not all the males portray the same symptoms and signs. (premiumessays.net)
- Many men with Klinefelter syndrome do not have obvious symptoms. (umcvc.org)
- It is named after Dr. Henry Klinefelter who first discovered the syndrome in 1942 and was able to link the symptoms back to men with an extra X chromosome. (clinicforhim.com)
Infertility7
- Klinefelter syndrome can make it difficult for people with this condition to have biological children (a condition called infertility), but up to half of people with Klinefelter syndrome may be able to have children using assisted reproductive technologies. (medlineplus.gov)
- If you or your son is diagnosed with Klinefelter syndrome, your health care team may include a doctor who specializes in diagnosing and treating disorders involving the body's glands and hormones (endocrinologist), a speech therapist, a pediatrician, a physical therapist, a genetic counselor, a reproductive medicine or infertility specialist, and a counselor or psychologist. (mayoclinic.org)
- Even if the problem is male-factor infertility, the chances of a man having Klinefelter syndrome are relatively low. (wdxcyber.com)
- An almost certain consequence of having the syndrome is permanent infertility. (sharedjourney.com)
- See our section on Klinefelter treatment, under Male Infertility: Drugs and Treatment, for more information. (sharedjourney.com)
- In Klinefelter syndrome (KS) the topic of fertility vs. infertility is of major concern since that, until recent years, infertility was considered an untreatable condition in KS. (springer.com)
- Infertility in patients with Klinefelter syndrome: optimal timing for sperm and testicular tissue cryopreservation. (springer.com)
Hypogonadism11
- Klinefelter syndrome is characterized by hypogonadism (micro-orchidism [small testes], oligospermia/azoospermia), gynecomastia in late puberty, hyalinization and fibrosis of the seminiferous tubules, elevated urinary gonadotropin levels, and behavioral concerns. (medscape.com)
- Management and treatment should focus on 3 major facets of the syndrome: hypogonadism, gynecomastia, and psychosocial problems. (medscape.com)
- The hypogonadism may lead to changes in body composition and a risk of developing metabolic syndrome and type 2 diabetes. (mensfe.net)
- Accordingly, clinical studies indicate that sexual dysfunctions, eventually present in KS, are not specifically associated with the syndrome but are related to the underlying hypogonadism. (mensfe.net)
- Classic Kallmann syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH) are rare genetic conditions that encompass the spectrum of isolated hypogonadotropic hypogonadism. (medscape.com)
- By definition, either anosmia (lack of sense of smell) or severe hyposmia is present in patients with Kallmann syndrome, in contrast to patients with idiopathic hypogonadotropic hypogonadism, whose sense of smell is normal. (medscape.com)
- MRI of the brain in patients with Kallmann syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH). (medscape.com)
- Deficient hypothalamic GnRH secretion underlies the markedly abnormal gonadotropin secretion patterns in most patients with Kallmann syndrome or idiopathic hypogonadotropic hypogonadism. (medscape.com)
- Some of the genes involved in the pathogenesis of Kallmann syndrome and idiopathic hypogonadotropic hypogonadism have been identified. (medscape.com)
- [ 3 ] In addition, mutations of the gene encoding chromodomain-helicase DNA-binding protein 7 ( CHD7 ) have been found in some patients with Kallmann syndrome or idiopathic hypogonadotropic hypogonadism, some of whom have features of the CHARGE syndrome (characterized by delayed growth and development, congenital cardiac defects, dysmorphic ears, hearing loss, coloboma of the eyes). (medscape.com)
- Loss-of-function mutations of critical components of the prokineticin pathway have been implicated in the pathogenesis of Kallmann syndrome and idiopathic hypogonadotropic hypogonadism. (medscape.com)
Therapy in Klinefelter patients1
- Zitzmann M, Depenbusch M, Gromoll J, Nieschlag E. X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients. (medscape.com)
Males with Klinefelter syndrome3
- An estimated 50% of males with Klinefelter syndrome can produce sperm. (wikipedia.org)
- A form of primary testicular failure occurs in males with Klinefelter Syndrome, with elevated gonadotropin levels due to lack of feedback inhibition by the pituitary gland. (medscape.com)
- A small percentage of males with Klinefelter syndrome are diagnosed before birth. (mayoclinic.org)
Diagnosis5
- Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. (mayoclinic.org)
- A combination of tests are used to diagnosis Klinefelter syndrome. (wdxcyber.com)
- A man who receives a positive diagnosis of Klinefelter syndrome will have to accept that it's very unlikely he'll ever biologically father a child. (wdxcyber.com)
- We aimed to investigate change over time in incidence, prevalence and age at diagnosis among Turner syndrome (TS), Klinefelter syndrome (KS), Triple X syndrome (Triple X) and Double Y syndrome (Double Y). (biomedcentral.com)
- The determination of testosterone in women is helpful in the diagnosis of androgenic syndrome (AGS), polycystic ovaries (Stein-Leventhal syndrome) and when an ovarian tumor, adrenal tumor, adrenal hyperplasia or ovarian insufficiency is suspected. (cdc.gov)
Testes4
- Individuals with Klinefelter syndrome typically have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). (medlineplus.gov)
- Adult Klinefelter men may have smaller-than-average testes . (sharedjourney.com)
- Males with the syndrome are often infertile, but sometimes the testes develop enough to produce sperm. (msdmanuals.com)
- It's not all about the testes: medical issues in Klinefelter patients. (medscape.com)
Chromosomes7
- The syndrome is defined by the presence of at least one extra X chromosome in addition to a Y chromosome yielding a total of 47 or more chromosomes rather than the usual 46. (wikipedia.org)
- Klinefelter syndrome is the most common sex chromosome disorder in males and the second most common condition caused by the presence of extra chromosomes. (clinicalpub.com)
- Klinefelter syndrome (KS) refers to a genetic condition where the males have an extra chromosome making the total number of chromosomes 47 instead of 46 in healthy males. (artfertilityclinics.com)
- However, some syndromes can affect these sex chromosomes, causing many issues for those involved, known as atypical sex chromosome patterns (Klinefelter and Turner syndrome). (hellovaia.com)
- Turner's syndrome patients have 45 chromosomes rather than the usual 46. (hellovaia.com)
- Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. (umcvc.org)
- Extant literature shows that Klinefelter syndrome (KS) is a chromosomal condition that affects the male physical, psychosocial and cognitive capacities due to the presence of one or more supernumerary X chromosomes among the affected individuals. (psychologywriting.com)
Phenotype6
- Klinefelter syndrome: expanding the phenotype and identifying new research directions. (uchicago.edu)
- Boada R, Janusz J, Hutaff-Lee C, Tartaglia N. The cognitive phenotype in Klinefelter syndrome: a review of the literature including genetic and hormonal factors. (medscape.com)
- An abnormal human female phenotype, called Turner syndrome , was described by H. H. Turner and associates 1938. (majordifferences.com)
- To characterize associations among psychosocial well-being, physical phenotype, and sex hormones in a sample of youth with Klinefelter syndrome (KS). (qxmd.com)
- Using an investigator-developed Klinefelter Phenotype Index Scale, the number of KS physical traits ranged from 1-13 (mean 5.1 ± 1.9). (qxmd.com)
- The Klinefelter Phenotype Index Scale may be a useful tool to characterize KS features in boys. (qxmd.com)
Harry Klinefelter1
- It is named after American endocrinologist Harry Klinefelter, who identified the condition in the 1940s. (wikipedia.org)
Variants1
- Visootsak J, Aylstock M, Graham JM Jr. Klinefelter syndrome and its variants: an update and review for the primary pediatrician. (medscape.com)
Karyotype4
- [ 1 ] The etiology was thought to be due to an endocrine disorder of unknown cause, until 1959, when Jacobs et al recognized that Klinefelter syndrome was a chromosomal disorder in which there is an extra X chromosome, resulting in the karyotype 47,XXY. (medscape.com)
- Today, the term Klinefelter syndrome (KS) refers to a group of chromosomal disorders in which the normal male karyotype, 46,XY, has at least one extra X chromosome. (medscape.com)
- If Klinefelter syndrome is not diagnosed prenatally, a patient with 47,XXY karyotype may demonstrate various subtle, age-related clinical signs that would prompt diagnostic testing. (medscape.com)
- Klinefelter syndrome (47, XXY) is a condition that occurs in men who have an extra X chromosome, resulting in an XXY sex chromosome karyotype. (healthguidenet.com)
Infertile1
- Until 1996, men with Klinefelter syndrome were considered infertile. (medscape.com)
19421
- In 1942, Klinefelter et al published a report describing nine men with a constellation of features: testicular dysgenesis, microorchidism, eunuchoidism, gynecomastia, elevated urinary gonadotropins, and azoospermia. (medscape.com)
Endocrinologist1
- This chromosomal condition was first observed and documented by Harry Fitch Klinefelter Jr, an American endocrinologist, and rheumatologist in the 40s, and hence its name. (hxbenefit.com)
Testicular5
- Adolescent male with Klinefelter syndrome who has female-type distribution of pubic hair and testicular dysgenesis. (medscape.com)
- Wikstrom AM, Dunkel L. Testicular function in Klinefelter syndrome. (medscape.com)
- The syndrome affects testicular growth adversely resulting to testicles that are smaller than normal. (premiumessays.net)
- Aksglaede I, Juul A. Testicular function and fertility in men with Klinefelter syndrome: a review. (springer.com)
- Plotton I, Giscard d'Estaing S, Cuzin B, Brosse A, Benchaib M, Lornage J, Ecochard R, Dijoud F, Lejeune H. Preliminary results of a prospective study of testicular sperm extraction in young versus adult patients with nonmosaic 47,XXY Klinefelter syndrome. (springer.com)
Sperm5
- Most men with Klinefelter syndrome are typically unable to father children because few or no sperm are produced in the testicles. (mayoclinic.org)
- There are men with Klinefelter syndrome all over the world who have become fathers through adoption, or assisted reproduction procedures using sperm from an anonymous donor. (wdxcyber.com)
- Often, the syndrome is not diagnosed till adulthood and most men with the syndrome will report to produce little to no sperm. (premiumessays.net)
- Objective To assess sperm retrieval rates in adolescents and young adults with Klinefelter syndrome, with the ultimate goal of improving fertility in this population. (elsevierpure.com)
- Conclusions This pilot study suggests that sperm retrieval rates in adolescents and young adults with Klinefelter syndrome are comparable with those reported in older men. (elsevierpure.com)
Occurs when a boy1
- Klinefelter syndrome occurs when a boy has one extra X chromosome. (msdmanuals.com)
Risk of developing metabol1
- People with Klinefelter syndrome have an increased risk of developing metabolic syndrome, which is a group of conditions that include high blood glucose levels during prolonged periods without food (fasting), high blood pressure ( hypertension ), increased belly fat, and high levels of fats (lipids) such as cholesterol and triglycerides in the blood. (medlineplus.gov)
Affects5
- Klinefelter syndrome, also called 47,XXY, is a chromosomal condition that affects development in people who are assigned male at birth. (medlineplus.gov)
- People with Klinefelter syndrome are more likely than those without Klinefelter syndrome to have autism spectrum disorder , which is a developmental disorder that affects communication and social interaction. (medlineplus.gov)
- Klinefelter syndrome affects about 1 in 650 newborns who were assigned male at birth. (medlineplus.gov)
- Klinefelter syndrome is a genetic condition that affects males. (umcvc.org)
- Marfan syndrome is an inherited disease that affects the body's connective tissue, which provides support, strength, and elasticity to blood vessels, cartilage, heart valves, tendons, and other important parts of the physical body. (healthguidenet.com)
Mosaicism1
- Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. (uchicago.edu)
Turner syndrome8
- But what happens when a biological male has an extra X chromosome (Klinefelter syndrome), and a biological female is missing an X chromosome (Turner syndrome)? (hellovaia.com)
- Finally, what are a few more interesting facts about Turner syndrome? (hellovaia.com)
- Before diving into Klinefelter and Turner Syndrome in psychology, let's be sure we know what a sex chromosome is. (hellovaia.com)
- Fig. 1 Blood testing for DNA is used to diagnose Klinefelter Syndrome and Turner Syndrome. (hellovaia.com)
- The Turner syndrome is due to monosomy X (45, X). This monosomic has a chromosome complement of 44 autosomes and one X chromosome (44+XO). (majordifferences.com)
- This is incorrect regarding turner Syndrome. (majordifferences.com)
- What characteristics a turner Syndrome girl has depends on how many of her cells were affected. (majordifferences.com)
- Also, only 1-2% of Turner Syndrome fetuses are born alive. (majordifferences.com)
Individuals5
- Individuals with Klinefelter syndrome may have have anxiety, depression , impaired social skills, or behavioral differences, such as emotional immaturity during childhood or difficulty with frustration. (medlineplus.gov)
- Treatment, health education and social support can greatly benefit individuals with Klinefelter syndrome. (mayoclinic.org)
- Fortunately, there are numerous treatment plans that can help individuals with KS lead an almost normal life as well as live as long as those who are unaffected by the syndrome. (hxbenefit.com)
- Individuals with Klinefelter Syndrome show reduced volume in several brain areas, including the amygdala, temporal and frontal regions, hippocampus, and insular cortex. (hellovaia.com)
- Individuals with this syndromes are phenotypically males but with tendency towards femaleness. (majordifferences.com)
Kallmann4
- Mutations of the KAL1 gene, which encodes a putative neural cell adhesion molecule (anosmin), have been described in several patients with X-linked Kallmann syndrome. (medscape.com)
- Loss-of-function mutations of the gene encoding fibroblast growth factor receptor 1 (FGFR1) have been described in patients with autosomal dominant Kallmann syndrome. (medscape.com)
- Mutations of the gene encoding fibroblast growth factor 8 have been found in a small minority of patients with autosomal dominant Kallmann syndrome. (medscape.com)
- [ 7 ] Homozygous, heterozygous or compound heterozygous mutations of the prokineticin receptor 2 have also been associated with Kallmann syndrome. (medscape.com)
Puberty4
- During puberty, the physical traits of the syndrome become more evident - because these boys do not produce as much testosterone as other boys, they have a less muscular body, less facial and body hair, and broader hips. (wikipedia.org)
- Having Klinefelter syndrome can be a challenge, especially during puberty and young adulthood. (mayoclinic.org)
- Note - since KS can be hard to notice, many parents don't know their child has the syndrome until he shows delays in puberty. (healthguidenet.com)
- Wikstrom AM, Raivio T, Hadziselimovic F, Wikstrom S, Tuuri T, Dunkel L. Klinefelter syndrome in adolescence: onset of puberty is associated with accelerated germ cell depletion. (springer.com)
Fetuses1
- An estimated 60% of pregnancies with fetuses having Klinefelter syndrome abort. (wikipedia.org)
Hereditary1
- Klinefelter syndrome is not a genetic or hereditary condition but transpires due to a randomized error in chromosomal patterning. (hxbenefit.com)
Tend2
- People with Klinefelter syndrome tend to have better receptive language skills (the ability to understand speech) than expressive language skills (vocabulary and the production of speech) and may have difficulty communicating and expressing themselves. (medlineplus.gov)
- Because men with Klinefelter syndrome tend to have low testosterone, they may have some physical characteristics that make them stand out from other men. (wdxcyber.com)
Clinical3
- Clinical review: Klinefelter syndrome--a clinical update. (mensfe.net)
- Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. (medscape.com)
- Note - because of the high degree of variability of the syndrome, many of these clinical characteristics can be present at birth or they can manifest later in childhood. (healthguidenet.com)
Condition8
- Klinefelter syndrome (KS), also known as 47,XXY, is an aneuploid genetic condition where a male has an additional copy of the X chromosome. (wikipedia.org)
- Klinefelter males are born with the condition. (sharedjourney.com)
- The chances of you actually having Klinefelter syndrome are very small (somewhere between 1 in 500 and 1 in 1000 men have the condition). (sharedjourney.com)
- Klinefelter syndrome , also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells. (doctors.am)
- Klinefelter syndrome (or 47,XXY or XXY syndrome) is a condition in which males have an extra X chromosome. (clinicalpub.com)
- Learn more about this condition from experts, meet others who have it, and network with them by joining our online support group for people with Klinefelters' syndrome. (medwonders.com)
- Klinefelter Syndrome (KS) is a condition that only occurs in men as a result of an extra X chromosome. (clinicforhim.com)
- Klinefelter syndrome is a rare genetic condition in which a male has an extra X chromosome. (cdc.gov)
Male births3
- Klinefelter syndrome is one of the most common chromosomal disorders, occurring in one to two per 1,000 live male births. (wikipedia.org)
- Klinefelter syndrome is the most common sex chromosome disorder and occurs in about 1 in every 500 live male births. (msdmanuals.com)
- One in every 500 male births is the victim of this syndrome. (majordifferences.com)
Phenotypic1
- Images reproduced from Quinton R, et al: The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis. (medscape.com)
Psychiatric1
- Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample. (medscape.com)
Partners pregnant1
- Many men, however, find out that they have Klinefelter syndrome only after they try, and fail, to get their partners pregnant. (wdxcyber.com)
Hormone4
- Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. (mayoclinic.org)
- Throughout their development, the syndrome prevents their bodies from producing enough of the male sex hormone testosterone. (sharedjourney.com)
- Klinefelter HF Jr, Reifenstein EC Jr, Albright F. Syndrome characterized by gynecomastia aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone. (medscape.com)
- A longitudinal perspective of hormone replacement therapies (HRTs) on neuromotor capabilities in males with 47,XXY (Klinefelter syndrome). (bvsalud.org)
Genetic conditions1
- The syndrome might be identified in pregnancy during a procedure to examine fetal cells drawn from the amniotic fluid (amniocentesis) or placenta for another reason - such as being older than age 35 or having a family history of genetic conditions. (mayoclinic.org)
Adolescent1
- Adolescent male with gynecomastia and Klinefelter syndrome. (medscape.com)
Females1
- Turner's Syndrome occurs in biological females who lack an X chromosome, i.e. (hellovaia.com)
Extra6
- Klinefelter males are born with at least one extra X chromosome in each of their cells. (wdxcyber.com)
- In a nutshell, men with Klinefelter syndrome have an extra X chromosome. (sharedjourney.com)
- Most genes from the extra X undergo inactivation, but some escape and serve as the putative genetic cause of the syndrome. (mensfe.net)
- One in every 500 males has an extra X chromosome but does not have the syndrome. (clinicalpub.com)
- Klinefelter Syndrome is the result of an extra X chromosome (XYX). (clinicforhim.com)
- Klinefelter syndrome is when a male has developed an extra X chromosome. (catster.com)