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.

*  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 ...
*  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 ...
*  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
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 ...
*  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 - 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 ...
*  Human genetics - Wikipedia
"Cri Du Chat Syndrome (Cat Cry Syndrome)". Encyclopedia of Special Education. Wiley. Retrieved 27 September 2013. "Klinefelter ... Males with Klinefelter syndrome, who have an extra X chromosome, will also undergo X inactivation to have only one completely ... One example of an X-linked trait is Coffin-Lowry syndrome, which is caused by a mutation in ribosomal protein gene. This ... "Genetics of Marfan Syndrome". Medscape. WebMD LLC. Stafford, Kate; Mannor, Michael. "Mutations and Genetic Disease". Genetic ...
*  5β-Dihydrotestosterone - Wikipedia
2262-. ISBN 978-0-08-088783-8. H.-J. Bandmann; R. Breit; E. Perwein (6 December 2012). Klinefelter's Syndrome. Springer Science ...
*  Gender taxonomy - Wikipedia
"Klinefelter's syndrome"); 45,X0 ("Turner syndrome"); 47,XYY; 47,XXX ("Triple X syndrome"); XXXX syndrome; XXXXX syndrome, 48, ... Men with Down syndrome sometimes also have Klinefelter syndrome. XYY Syndrome is also a syndrome resulting from a male sex ... Women with Triple-X syndrome are fertile but can have premature ovarian failure. Klinefelter Syndrome is a syndrome resulting ... Triple-X Syndrome is another syndrome that occurs from a female sex chromosome abnormality. Females inherit three or more X ...
*  Gender - Wikipedia
Klinefelter syndrome); 47,XYY (XYY syndrome); 47,XXX (XXX syndrome); 48,XXYY (XXYY syndrome); 46,XX/XY mosaic; other mosaic; ... chromosomes: 46,XX (genetic female); 46,XY (genetic male) ;45,X (Turner's syndrome); 47,XXY ( ...
*  Epigenetics of human development - Wikipedia
doi: 10.1038/nature09819 "Klinefelter Syndrome." - Mayo Clinic. N.p., n.d. Web. Engreitz, J.M. et al. (2013), "The Xist lncRNA ... ICF syndrome, caused by a mutation in the DNA methyltransferase 3b gene or DNA hypomethylation, which causes lack of DNA ... Russell-Silver Syndrome, caused by abnormal lack of methylation in the paternal ICE region, causing Igf2 repression. Symptoms ... "Russel Silver Syndrome." Genetics Home Reference. US National Library of Medicine, Apr. 2008. Web. 09 May 2015. "Prader Willi ...
*  Harry Klinefelter - Wikipedia
Klinefelter syndrome is named after him. Klinefelter studied first at the University of Virginia, Charlottesville and then at ... Klinefelter, H. F. (1986). "Klinefelter's syndrome: historical background and development". Southern Medical Journal. 79 (9): ... The syndrome in patients with positive chromatin in the buccal mucosa should probably be called Klinefelter's disease. Although ... Klinefelter, H.F., Jr.; Reifenstein, E.C., Jr.; Albright, F. (1942). "Syndrome characterized by gynaecomastia, aspermatogenesis ...
*  Polyembryoma - Wikipedia
It has been found in association with Klinefelter syndrome. Beresford L, Fernandez CV, Cummings E, Sanderson S, Ming-Yu W, ... "Mediastinal polyembryoma associated with Klinefelter syndrome". J. Pediatr. Hematol. Oncol. 25 (4): 321-3. doi:10.1097/00043426 ...
*  Gynecomastia - Wikipedia
Klinefelter syndrome is a notable example of a disorder that causes hypogonadism, gynecomastia, and has a higher risk of breast ... Gies I, Unuane D, Velkeniers B, De Schepper J (August 2014). "Management of Klinefelter syndrome during transition". European ... The pathologic causes of gynecomastia are diverse and may include Klinefelter syndrome, certain cancers, endocrine disorders, ... A few cases of gynecomastia caused by the rare disorders aromatase excess syndrome and Peutz-Jeghers syndrome have responded to ...
*  Hypogonadism - Wikipedia
Primary - defect is inherent within the gonad: e.g. Noonan syndrome, Turner syndrome (45X,0), Klinefelter syndrome (47XXY), XY ... Examples include Klinefelter syndrome and Turner syndrome. Mumps is known to cause testicular failure, and in recent years has ... Examples of hypogonadism that affect fertility more than hormone production are Klinefelter syndrome and Kartagener syndrome. ... and Klinefelter syndrome in males. It is also one of the signs of CHARGE syndrome. Examples of acquired causes of hypogonadism ...
*  Digit ratio - Wikipedia
Manning, J. T.; Kilduff, L. P.; Trivers, R. (2013-01-01). "Digit ratio (2D:4D) in Klinefelter's syndrome". Andrology. 1 (1): 94 ... Manning JT, Kilduff LP, Trivers R; Kilduff; Trivers (2013). "Digit ratio (2D:4D) in Klinefelter's syndrome". Andrology. 1 (1): ... Digit ratio in men with Klinefelter's syndrome, who have reduced testosterone secretion throughout life compared to control ... XY individuals with androgen insensitivity syndrome (AIS) due to a dysfunctional gene for the androgen receptor present as ...
*  Mediastinal germ cell tumor - Wikipedia
Syndromes associated with mediastinal germ cell tumors include Hematologic Neoplasia and Klinefelter's syndrome. Malignant ... "Mediastinal Germ Cell Tumor Imaging". C R Nichols; N A Heerema; C Palmer (1987). "Klinefelter's syndrome associated with ...
*  XXY (film) - Wikipedia
Those affected with Klinefelter syndrome often do not show highly-visible symptoms and are not aware of their condition, unless ... XXY on IMDb XXY at Box Office Mojo XXY at Rotten Tomatoes XXY at Metacritic Information about XXY and Klinefelter Syndrome. ... The film's title appears to be a reference to Klinefelter syndrome, a condition in which individuals have an extra X sex ... Klinefelter syndrome Intersex Hermaphrodite "XXY (15)". British Board of Film Classification. 2008-03-18. Retrieved 2013-06-15 ...
*  Francis Heaulme - Wikipedia
As someone with untreated Klinefelter's syndrome, Heaulme was at the time incapable of committing rape in the "standard" manner ... He has Klinefelter's syndrome (a supplemental X chromosome). Heaulme's father brutalized him until the age of 17 causing him to ...
*  Intersex - Wikipedia
Diamond, Milton; Linda, Watson (2004). "Androgen insensitivity syndrome and Klinefelter's syndrome: sex and gender ... This definition excludes Klinefelter syndrome and many other variations. He in turn criticizes Fausto-Sterling for counting ... The Androgen Insensitivity Syndrome Support Group (UK) established in 1988. The Intersex Society of North America (ISNA) may ... In the cases where gonads may pose a cancer risk, as in some cases of androgen insensitivity syndrome, concern has been ...
*  Male infertility - Wikipedia
A blood sample can reveal genetic causes of infertility, e.g. Klinefelter syndrome, a Y chromosome microdeletion, or cystic ... Genetic defects on the Y chromosome Y chromosome microdeletions Abnormal set of chromosomes Klinefelter syndrome Centriole ...
*  X chromosome - Wikipedia
Klinefelter syndrome: Klinefelter syndrome is caused by the presence of one or more extra copies of the X chromosome in a ... "Klinefelter Syndrome Pathophysiology". Medscape. Retrieved 2014-07-18. Visootsak J, Graham JM (2006). "Klinefelter syndrome and ... Males with Klinefelter syndrome typically have one extra copy of the X chromosome in each cell, for a total of two X ... Klinefelter syndrome can also result from an extra X chromosome in only some of the body's cells. These cases are called mosaic ...

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)

  • varicose veins
  • Klinefelter syndrome can lead to weak bones (osteoporosis), varicose veins, and autoimmune diseases (when the immune system acts against the body), such as lupus or rheumatoid arthritis. (hormone.org)
  • 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)
  • patients
  • The physical findings in patients with Klinefelter syndrome vary. (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)
  • 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)
  • hormone
  • 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)
  • 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)
  • osteoporosis
  • 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)
  • 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)
  • Small
  • Older moms have a slightly higher chance of having a boy with Klinefelter, but the increase in probability is very small. (webmd.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)
  • 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)
  • Often, men don't even know they have Klinefelter until they run into problems trying to have a child. (webmd.com)
  • Males with XYY syndrome are fertile and are not often aware that they have an abnormality. (wikipedia.org)
  • gynecomastia
  • 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)
  • 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)