Klinefelter Syndrome: A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).Sperm Retrieval: Procedures to obtain viable sperm from the male reproductive tract, including the TESTES, the EPIDIDYMIS, or the VAS DEFERENS.Azoospermia: A condition of having no sperm present in the ejaculate (SEMEN).Sex Chromosome Disorders: Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).Gynecomastia: Enlargement of the BREAST in the males, caused by an excess of ESTROGENS. Physiological gynecomastia is normally observed in NEWBORNS; ADOLESCENT; and AGING males.Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Sex Chromosome Aberrations: Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Gonadal Dysgenesis, 46,XX: The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.Karyotyping: Mapping of the KARYOTYPE of a cell.Primed In Situ Labeling: A technique that labels specific sequences in whole chromosomes by in situ DNA chain elongation or PCR (polymerase chain reaction).Aneuploidy: The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).XYY Karyotype: Abnormal genetic constitution in males characterized by an extra Y chromosome.Syndrome: A characteristic symptom complex.Infertility, Male: The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.Oligospermia: A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.Breast Neoplasms, Male: Any neoplasms of the male breast. These occur infrequently in males in developed countries, the incidence being about 1% of that in females.Fathers: Male parents, human or animal.Testis: The male gonad containing two functional parts: the SEMINIFEROUS TUBULES for the production and transport of male germ cells (SPERMATOGENESIS) and the interstitial compartment containing LEYDIG CELLS that produce ANDROGENS.Testosterone: A potent androgenic steroid and major product secreted by the LEYDIG CELLS of the TESTIS. Its production is stimulated by LUTEINIZING HORMONE from the PITUITARY GLAND. In turn, testosterone exerts feedback control of the pituitary LH and FSH secretion. Depending on the tissues, testosterone can be further converted to DIHYDROTESTOSTERONE or ESTRADIOL.In Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.

*  Abs. for infertility | DailyStrength

Klinefelter's Syndrome ACA = Anti-cardiolipin Antibodies ACTH = Adrenal Corticotropic Hormone AF = Aunt Flo (menstruation)... ... 47XXY = Klinefelter's Syndrome ACA = Anti-cardiolipin Antibodies ACTH = Adrenal Corticotropic Hormone AF = Aunt Flo ( ... PMS = Pre-menstrual Syndrome PNM = Perinatal Mortality PNV= Pre-natal Vitamin POC = Products of Conception POF = Premature ... OHSS = Ovarian Hyperstimulation Syndrome ONNA = Oh No, Not Again (mail list) OPK = Ovulation Predictor Kit OPSS = Overweight & ...

*  DMOZ - Health: Conditions and Diseases: Sex-Development Disorders: Intersex: Klinefelter Syndrome

Klinefelter's Syndrome gynecomastia Male chest recontouring for large male breasts (gynecomastia) found in Klinefelter's ... "Health ... Klinefelter Syndrome" search on: AOL - Ask - Bing - DuckDuckGo - Gigablast - Google - ixquick - Yahoo - Yandex - ... American Association for Klinefelter Syndrome Information and Support (AAKSIS) Email list, conference, membership, newsletter, ... MedlinePlus Medical Encyclopedia: Klinefelter Syndrome Defines this condition, the causes, symptoms, treatment, prognosis, and ...

*  Klinefelter's Syndrome - Causes, Symptoms, Diagnosis, Treatment & Complications

Klinefelter's Syndrome is the most frequent sex chromosomal genetic disorder and is caused by the presence of an extra X ... Infertility Treatment for Klinefelter s Syndrome Patients. * In Vitro Fertilization (IVF). If you have Klinefelter s syndrome ... How to Diagnose Klinefelter's Syndrome?. A thorough physical examination of an individual with Klinefelter s Syndrome is ... What are the Causes of Klinefelter's Syndrome?. Klinefelter s Syndrome occurs as the result of an error during the formation of ...

*  Developing a New Tool to Detect a Frequently Missed Sex Chromosome Disorder in Boys - Healthcanal.com : Healthcanal.com

Klinefelter syndrome is caused by an extra X chromosome and is one of the most common genetic causes of male infertility. It is ... Although Klinefelter syndrome affects approximately one in 600 males, only 10% of cases are diagnosed during childhood. The ... The Journal of Pediatrics paper is titled, "Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome." The list ... About two-thirds of the participants with Klinefelter syndrome indicated they had a poor quality of life, while 38% had low ...

*  Klinefelter Syndrome Differential Diagnoses

In 1959, these men with Klinefelter syndrome were discovered to have an extra X chromosome (genotype XXY) instead of the usual ... Klinefelter et al published a report on 9 men who had enlarged breasts, sparse facial and body hair, small testes, and an ... encoded search term (Klinefelter%20Syndrome) and Klinefelter Syndrome What to Read Next on Medscape. Related Conditions and ... Insulin resistance and metabolic syndrome in prepubertal boys with Klinefelter syndrome. Acta Paediatr. 2011 Jun. 100(6):866-70 ...

*  Klinefelter Syndrome

Síndrome de Klinefelter. What Is Klinefelter Syndrome?. Klinefelter syndrome can cause problems with learning and sexual ... How Is Klinefelter Syndrome Diagnosed?. The earlier a guy finds out about Klinefelter syndrome, the better. Treatments are most ... What Causes Klinefelter Syndrome?. Klinefelter syndrome isn't passed down through families like some genetic diseases. Instead ... Other times, Klinefelter syndrome interferes with speech, learning, and development.. Boys with Klinefelter syndrome might have ...

*  Klinefelter's syndrome - Everything2.com

Klinefelter's Syndrome is a genetic disorder first discoverd by Harry Klinefelter in 1942. It is caused by an extra X ch... ... What is Klinefelter's Syndrome? Klinefelter's Syndrome is a genetic disorder first discoverd by Harry Klinefelter in 1942. It ... Turner's syndrome. Instant Witch Syndrome. gynecomastia. Eponymous syndromes. XYY Syndrome. androgen insensitivity syndrome. ... Klinefelter's Syndrome is diagnosed in about 1 in 500 to 1 in 1000 men. It can be diagnosed by amniocentesis, at adolescence ...

*  Learning About Klinefelter Syndrome - National Human Genome Research Institute (NHGRI)

Additional Resources for Klinefelter Syndrome. What is Klinefelter syndrome?. Klinefelter syndrome is a condition that occurs ... Klinefelter syndrome [nlm.nih.gov]. From Genetics Home Reference.. *Understanding Klinefelter Syndrome [nichd.nih.gov] From the ... Klinefelter syndrome [nlm.nih.gov] From Medline Plus.. *Klinefelter's Syndrome [nlm.nih.gov]. Additional references from ... Additional Resources for Klinefelter Syndrome. *Klinefelter syndrome [ghr.nlm.nih.gov] From Genetics home Reference. ...

*  Search of: Recruiting, Not yet recruiting, Available Studies | 'Klinefelter Syndrome' - List Results - ClinicalTrials.gov

Fertility Preservation in Cases of Klinefelter Syndrome.. *Klinefelter Syndrome. *Procedure: Seminal analyses and testicular ... 12 Studies found for: Recruiting, Not yet recruiting, Available Studies , 'Klinefelter Syndrome' ... Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA. *Microdeletion ... Fertility Assessment in Patients With Klinefelter Syndrome. *Klinefelter Syndrome. *Other: Counseling. Observational. * ...

*  Adaptation Among Adolescents and Adults With Klinefelter Syndrome - No Study Results Posted - ClinicalTrials.gov

Adaptation Among Adolescents and Adults With Klinefelter Syndrome. This study has been completed. ...

*  Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome - Full Text View - ClinicalTrials.gov

Klinefelter Syndrome. Syndrome. Hypogonadism. Disease. Pathologic Processes. Gonadal Disorders. Endocrine System Diseases. Sex ... Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome (IZKF-CRA03-09). The safety and scientific validity of ... The Klinefelter Syndrome is one of the most common genetic disorders in men. The patients have one supernumerary X-chromosome, ... Klinefelter Syndrome: Do the Parental Origin and Epigenetic Profile of the Supernumerary X Chromosome Determine Phenotype, ...

*  Klinefelter syndrome - Wikipedia

True hermaphroditism Turner syndrome XXYY syndrome "What are common symptoms of Klinefelter syndrome (KS)?". Eunice Kennedy ... Klinefelter syndrome usually occurs randomly. An older mother may have a slightly increased risk of a child with Klinefelter ... The account given by Klinefelter came to be known as Klinefelter syndrome as his name appeared first on the published paper, ... 3.1% of infertile males have Klinefelter syndrome. The syndrome is also the main cause of male hypogonadism. According to 2008 ...

*  The AAKSIS E-Mail List provides discussion, support, and fellowship for those with XXY/Klinefelter Syndrome, or variants

... or having Klinefelter Syndrome, their supporters, family members, spouses, medical, and psychological advisors. ... The AAKSIS E-Mail List provides discussion, support, and fellowship for those with XXY/Klinefelter Syndrome, or variants is a ... The AAKSIS E-Mail List provides discussion, support, and fellowship for those with XXY/Klinefelter Syndrome, or variants ... or having Klinefelter Syndrome, their supporters, family members, spouses, medical, and psychological advisors. ...

*  Next Generation Sequencing expression profiling of mitochondrial subunits in men with Klinefelter syndrome

Keywords: Klinefelter syndrome, MT-ND6, cognitive deficits, NGS analysis, qRT-PCR. Introduction. Klinefelter syndrome (KS), ... The metabolic syndrome is frequent in Klinefelter's syndrome and is associated with abdominal obesity and hypogonadism. ... The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role ... Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab. 2003;88:622-6 ...

*  Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study | BMJ Open

The metabolic syndrome is frequent in Klinefelter's syndrome and is associated with abdominal obesity and hypogonadism. ... Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study. BMJ Open 2012;2:e000650. doi:10.1136/bmjopen- ... Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study ... Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study ...

*  In Klinefelter Syndrome Patients, What are the Common Behavioral Problems? | PediatricEducation.org™

Patient Presentation A 17-year-old male with known Klinefelter syndrome (KS) came to clinic for his health supervision visit. ... 1. How is Klinefelter syndrome similar to Turner Syndrome?. 2. What are indications for neuropsychiatric and/or educational ... Disease: Klinefelter's Syndrome Symptom/Presentation: Health Maintenance and Disease Prevention , Syndromes , Learning Problems ... Turner Syndrome and Klinefelter Syndrome. Adolesc Med State Art Rev. 2015 Aug;26(2):411-27. ...

*  Klinefelter syndrome | Genetic Diseases | ePharmaPedia

Klinefelter syndrome has been linked to learning and language problems in some cases. The signs and symptoms of this syndrome ... The signs and symptoms of klinefelter syndrome vary by age: Babies: This syndrome may not show any noticeable signs and ... Although men with klinefelter syndrome may be taller than average, otherwise they are normal in appearance. They are likely to ... A person should see a doctor to rule out klinefelter syndrome or another health condition in case he or his son has: Slow ...

*  Klinefelter Syndrome

Most males with Klinefelter syndrome have one extra copy of the X chromosome in each cell. Variants of Klinefelter syndrome ... Boys with Klinefelter syndrome may have learning disabilities and difficulty with speech and language development. They tend to ... Klinefelter syndrome is a chromosomal condition that affects male sexual development. Males with this condition typically have ... Compared with other men, adult males with Klinefelter syndrome have an increased risk of developing breast cancer and a chronic ...

*  Most recent papers with the keyword Klinefelter Syndrome | Read by QxMD

Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47, ... Klinefelter's syndrome (KS) is a genetic syndrome that presents with hypogonadism and is associated with metabolic syndrome. ... Corrigendum to "Klinefelter's syndrome (47,XXY) is in excess among men with Sjögren's syndrome" [Clin. Immunol. 168 (2016) 25- ... Down's syndrome has its own dysmorphic findings and is accompanied by mental retardation and hypotonia. Klinefelter's syndrome ...

*  Klinefelter Syndrome Awareness Council: What Is Klinefelter Syndrome?

What Is Klinefelter Syndrome? The group of symptoms with Klinefelter Syndrome was first described in 1942 by Dr. Harry ... Klinefelter Syndrome Awareness Council Klinefelter Syndrome, XXY and Variants International Awareness Week: March 15 - 21, 2015 ... Awareness Week for Klinefelter Syndrome.. If your local, regional, or national Klinefelter Syndrome support organization ... If at that point Klinefelter Syndrome is considered, a simple blood test can confirm the syndrome.. Treatment. There is no cure ...

*  Some new aspects of the Klinefelter syndrome]. - MyScienceWor...

Klinefelter syndrome (KS) is the most frequent form of male hypogonadism. Still, at least 50% ofcases are not d ... Klinefelter syndrome (KS) is the most frequent form of male hypogonadism. Still, at least 50% ofcases are not diagnosed, partly ... Some new aspects of the Klinefelter syndrome].. Authors * Gooren, L J G ... Some new aspects of the Klinefelter syndrome].: ...

*  Klinefelter's Syndrome: Understanding Klinefelter's syndrome in simple terms....

What is Klinefelter's Syndrome?. Klinefelter's syndrome is a genetic condition whereby an additional X chromosome is found. ... Boys with Klinefelter's syndrome have an extra X chromosome making their genotype 47XXY. The additional X chromosome can come ...

*  Introductions to Intersex Traits: What is Klinefelter Syndrome? - Ask An Intersexual

Here the focus will be on Klinefelter syndrome.. Klinefelter syndrome is a genetic condition in which a person is born with a ... Klinefelter syndrome Post navigation. Previous Article Book Review-Standing Tall with Turner Syndrome edited by Claudette ... Introductions to Intersex Traits: What is Klinefelter Syndrome?. This is the third in a series of posts in which I cover the ... At birth Klinefelter syndrome commonly results in genitals that are considered typical for males and most are not diagnosed ...

*  HealthlinkUSA - Discussion Forum for Treatments, Symptoms and Causes of 700 health conditions & diseases.

Munchausen Syndrome(Munchausen by Proxy) Muscle Soreness, Bruises, Falls and Sprains Muscular Dystrophy ...

*  American Urological Association - Guidelines

Sertoli Cell-Only Syndrome * Mixed (Focal) Atrophy * Klinefelter's Syndrome * Mixed Gonadal Dysgenesis ...

Polysomy: Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e.AzoospermiaGynecomastiaPRINS (gene): PRINS (psoriasis associated RNA induced by stress) is a long non-coding RNA. Its expression is induced by stress, and it may have a protective role in cells exposed to stress.Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).Male infertilityConfined placental mosaicism: Confined placental mosaicism (CPM) represents a discrepancy between the chromosomal makeup of the cells in the placenta and the cells in the baby. CPM was first described by Kalousek and Dill in 1983.FNA Mapping: Fine needle aspiration (FNA) cytology has been used to examine pathological human tissue from various organs for over 100 years.,Posner C.Blood–testis barrier: The blood–testis barrier is a physical barrier between the blood vessels and the seminiferous tubules of the animal testes. The name "blood-testis barrier" is misleading in that it is not a blood-organ barrier in a strict sense, but is formed between Sertoli cells of the seminiferous tubule and as such isolates the further developed stages of germ cells from the blood.Prenatal testosterone transfer: Prenatal Testosterone Transfer (also known as prenatal androgen transfer or prenatal hormone transfer) refers to the phenomenon in which testosterone synthesized by a developing male fetus transfers to one or more developing fetuses within the womb and influences development. This typically results in the partial masculinization of specific aspects of female behavior, cognition, and morphology, though some studies have found that testosterone transfer can cause an exaggerated masculinization in males.

(1/226) Germ cell development in the XXY mouse: evidence that X chromosome reactivation is independent of sexual differentiation.

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)

(2/226) Birth of a healthy neonate following the intracytoplasmic injection of testicular spermatozoa from a patient with Klinefelter's syndrome.

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)

(3/226) Klinefelter's syndrome in the male infertility clinic.

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)

(4/226) Fertilization and pregnancy outcome with intracytoplasmic sperm injection for azoospermic men.

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)

(5/226) Meiotic aneuploidy in the XXY mouse: evidence that a compromised testicular environment increases the incidence of meiotic errors.

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)

(6/226) Developmental and genetic disorders in spermatogenesis.

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)

(7/226) Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases.

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)

(8/226) Klinefelter's syndrome accompanied by mixed connective tissue disease and diabetes mellitus.

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)



Harry Klinefelter

  • Klinefelter's Syndrome is a genetic disorder first discoverd by Harry Klinefelter in 1942. (everything2.com)
  • Klinefelter's Syndrome (KS), was first described by Dr. Harry Klinefelter and his colleagues in 1942, while studying nine men with fertility problems and enlarged breasts. (medindia.net)
  • It is named after Harry Klinefelter who identified the condition in the 1940s. (wikipedia.org)
  • It was first described in 1942 by Dr. Harry Klinefelter. (pediatriceducation.org)
  • The group of symptoms with Klinefelter Syndrome was first described in 1942 by Dr. Harry Klinefelter and his coworkers. (blogspot.com)

chromosome

  • Instead of one X and one Y chromosome like most guys have, guys with Klinefelter syndrome are born with an extra "X" chromosome in most or all of their cells. (kidshealth.org)
  • If only some cells have the extra X chromosome, it's called mosaic Klinefelter syndrome . (kidshealth.org)
  • Variants of the syndrome are characterized by more than one extra X chromosome, e.g., 48,XXXY. (everything2.com)
  • Wikstrom AM, Painter JN, Raivio T, Aittomaki K, Dunkel L. Genetic features of the X chromosome affect pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome. (medscape.com)
  • Klinefelter's Syndrome, which affects 1 in 500 to 1 in 1000 live births, is a sex chromosomal genetic disorder where the affected males have an extra X chromosome. (medindia.net)
  • Although most patients with Klinefelter's Syndrome have only one extra X chromosome in their cells, approximately 10% of the patients have different forms of the disorder. (medindia.net)
  • In a small proportion of the Klinefelter individuals, a few of the body cells may be normal while the others may have an additional X chromosome. (medindia.net)
  • Klinefelter s Syndrome is caused by the presence of an additional X chromosome. (medindia.net)
  • Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. (genome.gov)
  • This study will elucidate how the parental origin of the X-chromosome influences health status as well as metabolic fate in Klinefelter patients. (clinicaltrials.gov)
  • Klinefelter syndrome (KS) is one of the most common sex-chromosome disorders as it affects up to 1 in every 600-1000 newborn males. (medsci.org)
  • One of the most common genetic conditions that affect males is klinefelter syndrome, which is usually the result of an extra copy of the X chromosome in each cell. (epharmapedia.com)
  • When an extra sex chromosome is inherited from one of the parents during the formation of the embryo, Klinefelter syndrome occurs, which happens entirely by chance because it is a random occurrence. (epharmapedia.com)
  • Most males with Klinefelter syndrome have one extra copy of the X chromosome in each cell. (blogspot.com)
  • Variants of Klinefelter syndrome involve more than one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. (blogspot.com)
  • Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing. (readbyqxmd.com)
  • Klinefelter's syndrome is a genetic condition whereby an additional X chromosome is found. (blogspot.com)
  • Males with Klinefelter syndrome, who have an extra X chromosome, will also undergo X inactivation to have only one completely active X chromosome. (wikipedia.org)
  • Turner Syndrome is a result from one of female sex chromosome abnormalities. (wikipedia.org)
  • Triple-X Syndrome is another syndrome that occurs from a female sex chromosome abnormality. (wikipedia.org)
  • Klinefelter Syndrome is a syndrome resulting from a male sex chromosome abnormality. (wikipedia.org)
  • XYY Syndrome is also a syndrome resulting from a male sex chromosome abnormality. (wikipedia.org)
  • Initially he suspected this to be endocrine disorder and postulated the presence of a second testicular hormone, but in 1959, Patricia A. Jacobs and Dr. J.A. Strong (Western General Hospital and University of Edinburg) demonstrated that a male patient with the phenotype of Klinefelter syndrome had an additional X chromosome (46 XXY). (wikipedia.org)
  • this quote needs a citation] On the later discovery of the extra X chromosome: Fourteen years after the original description of the syndrome, 2 groups independently discovered that the buccal mucosal cells of these patients contained an extra chromatin mass, or were chromatin positive. (wikipedia.org)
  • The film's title appears to be a reference to Klinefelter syndrome, a condition in which individuals have an extra X sex chromosome. (wikipedia.org)
  • He has Klinefelter's syndrome (a supplemental X chromosome). (wikipedia.org)
  • Age (see also: Paternal age effect) Genetic defects on the Y chromosome Y chromosome microdeletions Abnormal set of chromosomes Klinefelter syndrome Centriole Neoplasm, e.g. seminoma Idiopathic failure Cryptorchidism Trauma Hydrocele Mumps Malaria Testicular cancer Defects in USP26 in some cases Acrosomal defects affecting egg penetration Idiopathic oligospermia - unexplained sperm deficiencies account for 30% of male infertility. (wikipedia.org)

Klinefelter's

  • What is Klinefelter's Syndrome? (everything2.com)
  • Symptoms of Klinefelter's Syndrome include: occasional breast enlargement, a lack of facial and/or body hair , a rounded body type, and infertility . (everything2.com)
  • Klinefelter's Syndrome is not fatal and cannot be cured , however, the effects can be lessened with testosterone injections starting anytime after the onset of puberty . (everything2.com)
  • Klinefelter's Syndrome is diagnosed in about 1 in 500 to 1 in 1000 men. (everything2.com)
  • Damani MN, Mittal R, Oates RD. Testicular tissue extraction in a young male with 47,XXY Klinefelter's syndrome: potential strategy for preservation of fertility. (medscape.com)
  • Successful fertility treatment for Klinefelter's syndrome. (medscape.com)
  • 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)
  • Klinefelter's Syndrome (KS) is a sex chromosomal disorder like Turner s syndrome. (medindia.net)
  • What are the Causes of Klinefelter's Syndrome? (medindia.net)
  • What are the Signs and Symptoms Klinefelter's Syndrome? (medindia.net)
  • Objective To investigate the criminal pattern in men between 15 and 70 years of age diagnosed with 47,XXY (Klinefelter's syndrome (KS)) or 47,XYY compared to the general population. (bmj.com)
  • Corrigendum to "Klinefelter's syndrome (47,XXY) is in excess among men with Sjögren's syndrome" [Clin. (readbyqxmd.com)
  • Klinefelter's Syndrome: Understanding Klinefelter's syndrome in simple terms. (blogspot.com)
  • Male chest recontouring for large male breasts (gynecomastia) found in Klinefelter's Syndrome with surgical reduction by excision and liposuction. (dmoztools.net)
  • Klinefelter's syndrome is a genetic condition that only affects males. (menshealthforum.org.uk)
  • Syndromes associated with mediastinal germ cell tumors include Hematologic Neoplasia and Klinefelter's syndrome. (wikipedia.org)
  • As someone with untreated Klinefelter's syndrome, Heaulme was at the time incapable of committing rape in the "standard" manner. (wikipedia.org)
  • Renard was diagnosed with Klinefelter's syndrome, having 47 chromosones (XXY). (wikipedia.org)

Adults With Klinefelter Syndrome

  • Older children and adults with Klinefelter syndrome tend to be taller than other males their age. (blogspot.com)
  • Little is known about adults with Klinefelter Syndrome. (blogspot.com)
  • Along with infertility, adults with Klinefelter syndrome also have an increased risk for osteoporosis, breast cancer, varicose veins, and autoimmune disorders than their XY counterparts. (wordpress.com)

males

  • Klinefelter syndrome only affects males. (kidshealth.org)
  • These include Kallmann syndrome and 46,XX karyotype (in males). (medscape.com)
  • These individuals are also referred to as 'males with XXY syndrome' , or as 'XXY males' . (medindia.net)
  • Klinefelter syndrome is found in about 1 out of every 500-1,000 newborn males. (genome.gov)
  • Males who have Klinefelter syndrome may have the following symptoms: small, firm testes, a small penis, sparse pubic, armpit and facial hair, enlarged breasts (called gynecomastia), tall stature, and abnormal body proportions (long legs, short trunk). (genome.gov)
  • Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males. (wikipedia.org)
  • Compared with other men, adult males with Klinefelter syndrome have an increased risk of developing breast cancer and a chronic inflammatory disease called systemic lupus erythematosus. (blogspot.com)
  • At birth Klinefelter syndrome commonly results in genitals that are considered typical for males and most are not diagnosed until later. (wordpress.com)
  • Males with XYY syndrome are fertile and are not often aware that they have an abnormality. (wikipedia.org)
  • Examples of congenital causes of hypogonadism, that is, causes that are present at birth: Turner syndrome in females, and Klinefelter syndrome in males. (wikipedia.org)

Symptoms

  • What Are the Signs & Symptoms of Klinefelter Syndrome? (kidshealth.org)
  • The signs and symptoms of this syndrome vary. (epharmapedia.com)
  • Most of the time, this condition goes undiagnosed until adulthood, and many people with this syndrome have only a few noticeable symptoms. (epharmapedia.com)
  • These conditions tend to have more severe signs and symptoms than classic Klinefelter syndrome. (blogspot.com)
  • The widelyvariable phenotypic spectrum and the different severity of symptoms in men with Klinefelter syndrome (KS) suggest a role for epigenetic mediators. (readbyqxmd.com)
  • Those affected with Klinefelter syndrome often do not show highly-visible symptoms and are not aware of their condition, unless diagnosed later in life (usually due to infertility). (wikipedia.org)

Variants

  • Visootsak J, Aylstock M, Graham JM Jr. Klinefelter syndrome and its variants: an update and review for the primary pediatrician. (medscape.com)
  • In addition to affecting male sexual development, variants of Klinefelter syndrome are associated with intellectual disability, distinctive facial features, skeletal abnormalities, poor coordination, and severe problems with speech. (blogspot.com)
  • Educational and support information about Klinefelter Syndrome/XXY and its variants. (dmoztools.net)

chromosomes

  • Genetic variation in Klinefelter individuals show three to four extra X chromosomes, extra Y-chromosomes or mosaics . (medindia.net)
  • Klinefelter s Syndrome occurs as the result of an error during the formation of an egg or a sperm that results in a person having a XXY combination or 47 chromosomes instead of the normal 46. (medindia.net)
  • In humans, the most common sex chromosomal disorder is Klinefelter syndrome (KS), caused by the presence of one or more extra X-chromosomes. (readbyqxmd.com)
  • An example of a hypogonadism resulting from the lack of hormone response is androgen insensitivity syndrome, where there are inadequate receptors to bind the testosterone, resulting in a female appearance despite XY chromosomes. (wikipedia.org)

hypogonadism

  • Klinefelter syndrome (KS) is the most frequent form of male hypogonadism. (mysciencework.com)
  • Polycystic ovary syndrome, and Kallmann syndrome, also called hypogonadotropic hypogonadism. (wikipedia.org)
  • Examples of hypogonadism that affect fertility more than hormone production are Klinefelter syndrome and Kartagener syndrome. (wikipedia.org)

adolescence

  • The onset of adolescence in Klinefelter s Syndrome is marked by the lack of testosterone, poor growth of secondary sexual characters, gynecomastia and sterility. (medindia.net)
  • In some cases, this syndrome could cause learning and social difficulties during childhood and adolescence. (epharmapedia.com)
  • Beyond monitoring for potential health and fertility issues associated with Klinefelter syndrome, other conventional medical interventions to a diagnosis of Klinefelter syndrome in adolescence and beyond often include testosterone replacement therapy and surgical removal of breast tissue in the interest of promoting a more conventional adult male appearance. (wordpress.com)

Androgen Insensit

  • Some examples include Androgen Insensitivity Syndrome, Congenital Androgen Hyperplasia, and cliormegaly. (wordpress.com)

occurs

  • Klinefelter syndrome usually occurs randomly. (wikipedia.org)
  • This particular syndrome occurs in 1 out of 500 to 1 in 1,000 live male assigned births and manifests in a variety of ways that range from the mild to the severe. (wordpress.com)

infertility

  • Although infertility could be caused by something other than this syndrome, however, men are not diagnosed with this condition until they realize that they are not able to father a child. (epharmapedia.com)
  • In adulthood the most common issue associated with Klinefelter syndrome is infertility due to a lack of testiculuar development. (wordpress.com)

Noonan

  • The primary lymphedema can also be a part of more complex malformative diseases such as Klinefelter, Turner or Noonan syndromes. (readbyqxmd.com)
  • Noonan syndrome, Turner syndrome (45X,0), Klinefelter syndrome (47XXY), XY females with SRY gene-immunity Secondary - defect lies outside of the gonad: e.g. (wikipedia.org)

adulthood

traits

  • Introductions to Intersex Traits: What is Klinefelter Syndrome? (wordpress.com)

karyotype

  • Klinefelter syndrome is a genetic condition in which a person is born with a 47XXY karyotype or a 47XXY/46XY karyotype instead of a typical 46XX karyotype or 46XY karyotype. (wordpress.com)

Turner

  • If given estrogen replacement therapy around the age of puberty, women with Turner syndrome appear relatively normal. (wikipedia.org)
  • Examples include Klinefelter syndrome and Turner syndrome. (wikipedia.org)

patients

  • The physical findings in patients with Klinefelter syndrome vary. (medscape.com)
  • It's not all about the testes: medical issues in Klinefelter patients. (medscape.com)
  • These will be related to clinically relevant metabolic and inflammatory patterns as well as fertility to identify individual risks as well as treatment strategies for Klinefelter patients. (clinicaltrials.gov)
  • In Klinefelter Syndrome Patients, What are the Common Behavioral Problems? (pediatriceducation.org)
  • this quote needs a citation] Klinefelter comments on gynecomastia: A few years after the syndrome was described, Heller and Nelson reported that the gynecomastia was not a necessary part of the syndrome, though it occurred in about 75% of the patients. (wikipedia.org)

Phenotype

  • Close S, Fennoy I, Smaldone A, Reame N. Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome. (medscape.com)

testes

  • Common physical signs of Klinefelter syndrome include tall stature, long legs, small, firm testes, small penis, enlarged breasts, and little to no body and facial growth. (wordpress.com)

puberty

  • When puberty starts and guys' bodies begin to make sex hormones, boys with Klinefelter usually don't produce as much of the male hormone testosterone. (kidshealth.org)
  • Starting testosterone therapy at the time of the usual onset of puberty could be helpful in treating or preventing a number of problems caused by Klinefelter syndrome. (epharmapedia.com)

genetic diseases

  • Klinefelter syndrome isn't passed down through families like some genetic diseases . (kidshealth.org)

Causes

  • What Causes Klinefelter Syndrome? (kidshealth.org)
  • The pathologic causes of gynecomastia are diverse and may include Klinefelter syndrome, certain cancers, endocrine disorders, metabolic dysfunction, various medications, or may occur due to a natural decline in testosterone production. (wikipedia.org)

metabolic

  • They also have higher rates of diabetes mellitus, obesity, metabolic syndrome, osteopenia/osteoporosis and autoimmune disorders especially systemic lupus erythematosus. (pediatriceducation.org)

testosterone levels

  • Sometimes, weaker bones, lower energy levels and gynecomastia may be caused due to the low testosterone levels caused by klinefelter syndrome. (epharmapedia.com)

testicular

  • Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome. (medscape.com)
  • Boys who are born with this syndrome have low levels of the sex hormone testosterone because this condition could affect testicular growth, which could result in reduced muscle growth, gynecomastia (enlarged breast tissue) and reduced body and facial hair. (epharmapedia.com)

male

  • Klinefelter syndrome is one of the most common chromosomal disorders, occurring in 1:500 to 1:1,000 live male births. (wikipedia.org)
  • A 17-year-old male with known Klinefelter syndrome (KS) came to clinic for his health supervision visit. (pediatriceducation.org)
  • The diagnosis of a healthy male with Klinefelter syndrome was made. (pediatriceducation.org)
  • Klinefelter syndrome (KS) is a common genetic abnormaly with a prevalence of 1 in ~650 male births. (pediatriceducation.org)
  • Klinefelter syndrome is a chromosomal condition that affects male sexual development. (blogspot.com)
  • A small proportion of male gynecomastia cases may be seen with rare inherited disorders such as spinal and bulbar muscular atrophy and the very rare aromatase excess syndrome. (wikipedia.org)

cognitive

  • The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome. (medscape.com)
  • The syndrome is also related to a wide range of cognitive deficits, among which language-based learning disabilities and verbal cognition impairment are frequently diagnosed. (medsci.org)

Diseases

  • For example, guys with Klinefelter syndrome may be more likely to get some types of cancer and other diseases, like type 2 diabetes and osteoporosis, a condition where the bones become weaker later in life. (kidshealth.org)
  • The title, "A Syndrome Characterized by Gynecomastia, Aspermatogenesis without Aleydigism, and Increased Excretion of Follicle-Stimulating Hormone," was so long that the syndrome came to be known by my name, though it was really just another of Dr. Albright's diseases. (wikipedia.org)

taller

  • This syndrome could cause boys and teenagers to be taller and have longer legs than others. (epharmapedia.com)
  • Although men with klinefelter syndrome may be taller than average, otherwise they are normal in appearance. (epharmapedia.com)

autoimmune disorders

  • Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's syndrome. (genome.gov)

tend

  • XXY boys with Klinefelter Syndrome tend not to be as strong or as athletic as other boys. (blogspot.com)

gynecomastia

  • 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)
  • under the supervision of Fuller Albright he described a group of nine men with "gynecomastia, aspermatogenesis without aleydigism, and increased excretion of follicle-stimulating hormone", the first description of what would be called the Klinefelter syndrome. (wikipedia.org)
  • Medications such as aromatase inhibitors have been found to be effective in rare cases of gynecomastia from disorders such as aromatase excess syndrome or Peutz-Jeghers syndrome, but surgical removal of the excess tissue is usually required. (wikipedia.org)

characteristics

  • Information about Klinefelter Syndrome, when it was first discovered, the common characteristics, and treatment. (dmoztools.net)

severe

  • Differences in boys with Klinefelter syndrome can range from mild to severe. (kidshealth.org)

boys

  • Boys with Klinefelter syndrome may also have problems with attention, speech development, and learning word skills like spelling, reading, or writing. (kidshealth.org)
  • Boys with Klinefelter syndrome may have difficulty with spelling, reading, writing, and paying attention. (kidshealth.org)
  • Some boys with Klinefelter syndrome are less interested in sports or physical activities. (kidshealth.org)
  • Boys with this syndrome may be less assertive than others, and they may be shy. (epharmapedia.com)
  • Boys with Klinefelter syndrome may have learning disabilities and difficulty with speech and language development. (blogspot.com)

common genetic

  • The Klinefelter Syndrome is one of the most common genetic disorders in men. (clinicaltrials.gov)

condition

  • It is known as the forgotten syndrome, as it is a common yet under-diagnosed genetic condition, despite being described almost 70 years ago. (medindia.net)
  • Although a person will still need treatment for the condition, however, he probably won't have children in case he has Klinefelter syndrome. (epharmapedia.com)
  • Men with this condition usually have Klinefelters Syndrome. (dmoztools.net)

osteoporosis

  • Klinefelter syndrome is associated with an increased risk for breast cancer, a rare tumor called extragonadal germ cell tumor, lung disease, varicose veins and osteoporosis. (genome.gov)

findings

  • Klinefelter described his findings as follows: I first worked under Dr. Howard Means, measuring oxygen consumption of adrenal gland slices in the Warburg apparatus, but I was so unsuccessful at it, breaking most of the apparatus, that in September, I asked Dr. Means if I might work with Dr. Fuller Albright, since I primarily wanted to learn some clinical endocrinology. (wikipedia.org)

extra

  • Most often, Klinefelter syndrome is the result of one extra X (written as XXY). (genome.gov)

typically

  • In terms of the child's education, XXY's with Klinefelter Syndrome are typically well behaved in the classroom and are eager to please the teacher. (blogspot.com)

signs

  • This syndrome may not show any noticeable signs and syndromes at first. (epharmapedia.com)
  • Beyond the aforementioned physical signs, Klinefelter syndrome is also associated with various learning difficulties including difficulties with memory, attention, verbal communication, and social skills. (wordpress.com)
  • It is also one of the signs of CHARGE syndrome. (wikipedia.org)

include

  • Examples of hypothalamic defects include Kallmann syndrome. (wikipedia.org)

health

  • Most teens with Klinefelter syndrome aren't likely to have major health problems. (kidshealth.org)
  • While this list of possible health issues may look intimidating, it is important Klinefelter syndrome presents in a wide range of ways and it is highly unlikely any one individual will have experience all of these health issues over their lifetime. (wordpress.com)

children

  • Women who are 35 and older have the greatest risk of having children with Klinefelter s syndrome. (medindia.net)
  • Most men who have Klinefelter syndrome are not able to father children. (genome.gov)
  • Although new procedures are making it possible for men with this syndrome to father children, however, most men with Klinedelter syndrome are infertile. (epharmapedia.com)
  • As many children with Klinefelter Syndrome have speech and language difficulties, it may also be helpful to work with a speech pathologist. (blogspot.com)

Treatment

  • As men, most guys with Klinefelter syndrome can have sex, usually with the help of testosterone treatment. (kidshealth.org)
  • A number of conditions that need treatment including Klinefelter syndrome could have delays in growth and development as their initial sign or symptom. (epharmapedia.com)
  • There is no cure for Klinefelter Syndrome, therefore, treatment is symptomatic. (blogspot.com)

usually

  • To diagnose a guy with Klinefelter syndrome, doctors usually begin by asking about any learning or behavior issues and examining his testicles and body proportions. (kidshealth.org)
  • Usually, the effects of this syndrome vary from one person to another. (epharmapedia.com)

often

  • Since high-school life often revolves around schoolwork and sports, guys with Klinefelter may feel like they don't fit in or lack self-confidence. (kidshealth.org)

normal

  • Most men who have Klinefelter syndrome can expect to have a normal and productive life. (genome.gov)

difficulties

  • When present, these difficulties can be overcome with appropriate accommodations in school and support from family and friends as well as others in Klinefelter community. (wordpress.com)