41. Turner Syndrome monosomy X, Ullrichturner syndrome, 45,X gonadal dysgenesis Definition One of these 23 pairs determines whether a person will be a male or a female. http://www.northmemorial.com/healthencyclopedia/content/2748.asp

Turner syndrome Alternative Names monosomy X, Ullrich-Turner syndrome, 45,X gonadal dysgenesis Definition Turner syndrome is a genetic disorder caused by the lack of an X chromosome. What is going on in the body? Turner syndrome only affects females. Because females with Turner syndrome don't have the normal number of chromosomes, the body's natural balance is upset. This results in underdevelopment of the ovaries, breasts, uterus and vagina. Females with this disorder are infertile. Women with Turner syndrome are shorter than average, usually under 5' tall. This disorder usually does not cause mental retardation , but some affected females have learning disabilities. They also may have confusion about space and distances. What are the signs and symptoms of the condition? The most common features of Turner syndrome are: short stature failure to develop sexually puffiness of the backs of the hands and feet at birth congenital heart disease low hairline on the back of the neck excess skin or webbing of the neck pigmented mole-like lesions on the skin kidney defects short fourth fingers inability to fully extend the elbows What are the causes and risks of the condition?

42. Turner Syndrome - Talk Medical Reliable medical information on turner syndrome. One of these 23 pairsdetermines whether a person will be a male or a female. http://www.talkmedical.com/diseases-disorders/941/Turner-Syndrome

Home Medications Medical Dictionary Talk Medical Newsletter Subscribe to the free monthly health digest. Relevant health articles just for you. Tell a friend Turner Syndrome Turner syndrome is a genetic disorder caused by the lack of an X chromosome. What is going on in the body? Turner syndrome only affects females. Because females with Turner syndrome don't have the normal number of chromosomes, the body's natural balance is upset. This results in underdevelopment of the ovaries, breasts, uterus and vagina. Females with this disorder are infertile. Women with Turner syndrome are shorter than average, usually under 5' tall. This disorder usually does not cause mental retardation, but some affected females have learning disabilities. They also may have confusion about space and distances. What are the signs and symptoms of the condition? The most common features of Turner syndrome are: short stature failure to develop sexually puffiness of the backs of the hands and feet at birth congenital heart disease low hairline on the back of the neck excess skin or webbing of the neck pigmented mole-like lesions on the skin kidney defects short fourth fingers inability to fully extend the elbows What are the causes and risks of the condition?

43. ICD-10: Block Q90-Q99 Q96.8, Other variants of turner s syndrome. Q96.9, turner s syndrome, unspecified Q98.1, Klinefelter s syndrome, male with more than two X chromosomes http://www3.who.int/icd/vol1htm2003/gq90.htm

Chapter XVII Congenital malformations, deformations and chromosomal abnormalities Chromosomal abnormalities, not elsewhere classified Down's syndrome Trisomy 21, meiotic nondisjunction Trisomy 21, mosaicism (mitotic nondisjunction) Trisomy 21, translocation Down's syndrome, unspecified Trisomy 21 NOS Edwards' syndrome and Patau's syndrome Trisomy 18, meiotic nondisjunction Trisomy 18, mosaicism (mitotic nondisjunction) Trisomy 18, translocation Edwards' syndrome, unspecified Trisomy 13, meiotic nondisjunction Trisomy 13, mosaicism (mitotic nondisjunction) Trisomy 13, translocation Patau's syndrome, unspecified Other trisomies and partial trisomies of the autosomes, not elsewhere classified Includes: unbalanced translocations and insertions Excludes: trisomies of chromosomes 13, 18, 21 Whole chromosome trisomy, meiotic nondisjunction Whole chromosome trisomy, mosaicism (mitotic nondisjunction) Major partial trisomy Whole arm or more duplicated. Minor partial trisomy Less than whole arm duplicated. Duplications seen only at prometaphase Duplications with other complex rearrangements Extra marker chromosomes Triploidy and polyploidy Other specified trisomies and partial trisomies of autosomes Trisomy and partial trisomy of autosomes, unspecified

44. Abnormal Sex Differentiaton - Specific Syndromes Of Sex Differentiation associated with turner syndrome compared to those of unaffected males andfemales. Normal Female Development, turner syndrome, Normal male Development http://www.hopkinschildrens.org/specialties/categorypages/intersex/sd4.html

Contents Title Page Introduction Normal Sex Differentiation Disorders of Sex Differentiation ... Return to Pediatric Endocrine IV. Specific Syndromes of Sex Differentiation 1. Androgen Insensitivity Syndrome (AIS) Androgen Insensitivity Syndrome occurs when an individual, due to a mutation of the androgen receptor gene, is incapable of responding to androgens. Two forms of AIS exist, Complete AIS (CAIS) and Partial AIS (PAIS). CAIS CAIS affects 46,XY individuals. CAIS patients have normal appearing female external genitalia due to the their complete inability to respond to androgens. This is because the genital tubercle, genital swellings, and genital folds can not masculinize in these patients despite the presence of functional testes located in the abdomen. Similarly, Wolffian duct development does not occur because the Wolffian duct structures can not respond to androgens produced by CAIS patients. Mullerian duct development is inhibited in CAIS individuals because MIS is secreted by the testes. In addition to possessing normal female external genitalia, CAIS individuals also experience normal female breast development along with sparse pubic and axillary hair growth at puberty. The following chart illustrates the steps of sex differentiation associated with CAIS compared to those of unaffected males and females.

45. Whitehead Institute - New Picture Of Y Chromosome Study Paints New Picture of Y Chromosome as a Safe Haven for male Fertility Genetic analyses of turner syndrome patients has led to the discovery of two http://www.wi.mit.edu/news/archives/1997/dp_1024.html

document.writeln(""); document.writeln(""); document.writeln(""); document.writeln(""); whitehead home research news search news archives 1997 news stories Study Paints New Picture of Y Chromosome as a Safe Haven for Male Fertility Genes These results are not only generating a new respect for the Y chromosome but also could lead to novel diagnostic techniques for thousands of infertile men. The results also have profound implications for understanding the genetic differences between men and women and the genetic underpinnings of chromosomal disorders such as Turner syndrome. "These results show that the Y chromosome is functionally coherent; it has a short list of missions to which it is dedicated. By contrast, other human chromosomes contain motley assortments of genes with no theme or unifying purpose apparent. The human Y chromosome is a striking exception," says Dr. Page. New Picture of Y "As recently as ten years ago, many biologists assumed that the Y chromosome was a genetic wasteland except for one important gene, the sex-determining gene, " says Dr. Page. "Even when we and others did find other genes on the Y, they generally turned out to be copies of genes found on the X, which only supported the wasteland model of the Y chromosome." Although these notions started to change when Dr. Page and others began discovering the genes related to male fertility on the Y, scientists continued to regard the rest of the Y chromosome as functionally inert. So Drs. Page and Lahn conducted a systematic search for a broad, representative sampling of genes on the Y to help form meaningful generalizations about the NRY's gene content.

46. Science Netlinks: Science Updates Every summer, the male midshipman fish serenades potential mates with this But the fact that turner s syndrome, a genetic condition that causes estrogen http://www.sciencenetlinks.org/sci_update.cfm?DocID=229

47. Entrez PubMed turner syndrome (45x) with clitoromegaly. Haddad NG, Vance GH, Eugster EA, DavisMM, Kaefer M. Female; Humans; male; turner syndrome/complications* http://www.reproductive-health-journal.com/pubmed/14501769

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48. Dorlands Medical Dictionary turner s syndrome, male, Noonan s s. twiddler s syndrome, dislodgement, breakdown,or other malfunction of an artificial cardiac pacemaker, http://www.merckmedicus.com/pp/us/hcp/thcp_dorlands_content.jsp?pg=/ppdocs/us/co

49. Journal Of Sex Research: How Common Is Intersex? A Response To Anne Fausto-Sterl Babies born with Klinefelter syndrome (47,XXY) have normal male genitalia. turner syndrome. Among the most salient features of turner syndrome (45,X) http://www.findarticles.com/p/articles/mi_m2372/is_3_39/ai_94130313/pg_2

@import url(/css/us/style1.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); @import url(/css/us/artHome1.css); Advanced Search Home Help IN free articles only all articles this publication Automotive Sports 10,000,000 articles - not found on any other search engine. FindArticles Journal of Sex Research August 2002 Content provided in partnership with 10,000,000 articles Not found on any other search engine. Related Searches Chromosomes / Physiological aspects Chromosomes / Genetic aspects Hermaphroditism / Causes of Hermaphroditism / Research ... Genotype / Physiological aspects Featured Titles for AAACN Viewpoint ABNF Journal, The AIDS Treatment News AMAA Journal ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports How common is intersex? A response to Anne Fausto-Sterling Journal of Sex Research August, 2002 by Leonard Sax Save a personal copy of this article and quickly find it again with Furl.net. It's free! Save it. Continued from page 1. Complete Androgen Insensitivity Syndrome These individuals are genetically male (XY), but owing to a defect in the androgen receptor, their cells do not respond to testosterone or other androgens (Boehmer et al., 2001). As a result, these individuals do not form male genitalia. Genetically male (XY) babies with this condition typically are born with a vaginal opening and clitoris indistinguishable from those seen in normal female (XX) babies. In almost all cases, the diagnosis is not suspected until puberty, when these "girls" are brought to medical attention because they have never menstruated. Investigation at that point will invariably reveal that these "girls" are in fact genetically male, that they have undescended testicles, and that neither the uterus nor the ovaries are present. These individuals are genotypically male, but phenotypically female.

50. Male, Female, Other By Simon LeVay This Is The Tale Of Two Anatomically male but infertile. turner s syndrome Affected individuals haveone X and no Y chromosome. Ovaries degenerate during fetal life, http://www.nerve.com/dispatches/levay/intersex/main.asp

T his is the tale of two children, born with the outward appearance of girls, but lacking the inner passageways of either sex: no cervix, uterus or fallopian tubes, and no seminal vesicles, vasa deferentia or prostate either. They did have gonads, though: one had a boy's testes, the other had a girl's ovaries. That's obvious, you'll say: the child with the ovaries became a woman, and the child with the testes became a man. Hormones, after all, are the ultimate arbiters of our sexual fate, so how could it be otherwise? Well, it was otherwise. The child with the testes became a woman, and the child with the ovaries became a man. This is the story of how that happened. And, more generally, it's about the biological complexity, the emotional turmoil and the medical politics of intersexes S herri Groveman, a forty-one-year-old tax lawyer, lives alone in a ranch-style home in a sun-baked suburb of San Diego. She's a pleasant, forthright, freckle-faced, womanly Sherri has a medical condition known as androgen insensitivity syndrome

51. THE MERCK MANUAL, Sec. 19, Ch. 261, Congenital Anomalies The phenotype varies from that of a typical turner syndrome to normal. Klinefelter syndrome occurs in about 1/800 live male births. http://www.merck.com/mrkshared/mmanual/section19/chapter261/261l.jsp

52. Male Infertility Overview Noonan s syndrome (male turner s syndrome). Myotonic dystrophy. - Bilateralanorchia (vanishing testes syndrome). - Sertoli-cell-only syndrome (germinal http://www.ivf.com/shaban.html

Male Infertility Overview Assessment, Diagnosis, and Treatment Stephen F. Shaban, M.D. Clinical Assistant Professor Department of Surgery, Division of Urology University of North Carolina School of Medicine Chapel Hill, NC. ASSESSMENT Male Infertility - Overview Approximately 15% of couples attempting their first pregnancy meet with failure. Most authorities define these patients as primarily infertile if they have been unable to achieve a pregnancy after one year of unprotected intercourse. Conception normally is achieved within twelve months in 80-85% of couples who use no contraceptive measures, and persons presenting after this time should therefore be regarded as possibly infertile and should be evaluated. Data available over the past twenty years reveal that in approximately 30% of cases pathology is found in the man alone, and in another 20% both the man and woman are abnormal. Therefore, the male factor is at least partly responsible in about 50% of infertile couples. MALE REPRODUCTIVE PHYSIOLOGY The Hypothalamic-Pituitary-Gonadal Axis The hypothalamus is the integrative center of the reproductive axis and receives messages from both the central nervous system and the testes to regulate the production and secretion of gonadotropin releasing hormone (GnRH) . Neurotransmitters and neuropeptides have both inhibitory and stipulatory influence on the hypothalamus. The hypothalamus releases GnRH in a pulsatile nature which appears to be essential for stimulating the production and release of both

53. HEART VIEWS - VOLUME 3 NO. 1 MARCH-MAY, 2002 Flavell G. Webbing of the neck with turner’s syndrome in the male. Br J Surg.1943;31150153. 15. Ullrich O. turner’s syndrome and status Bonnevie-Ullrich; http://www.hmc.org.qa/hmc/heartviews/H-V-v3 N2/9.htm

VOLUME 3 NO. 2 JUNE- AUGUST 2002 EDITOR'S PAGE CARDIOVASCULAR NEWS FUTURE TRENDS EDITORIAL ... MEDICAL ETHICS HISTORY OF MEDICINE FILLER EDITOR HISTORY OF MEDICINE NOONAN SYNDROME A HISTORICAL PERSPECTIVE Jacqueline A. Noonan, M.D. Professor Emeritus, University of Kentucky, Department of Pediatric Cardiology Lexington, Kentucky, USA Introduction Genetics of Noonan syndrome Associated clinical findings: new insights Short stature ... References Introduction Genetics of Noonan syndrome Child with Noonan syndrome characterized by slight irides, hypertelorism and fleshy posteriorly rotated ears.The syndrome is commonly associated with valvular pulmonary stenosis. The gene PTPN-11 on chromosome 12 is responsible for the abnormality. Associated clinical findings: new insights Short stature Mental development Developmental delay is frequent. Part of this motor delay may be attributed to muscular hypotonia. In a study by van der Burgt (32) individual IQ scores varied between 48 –130. Some children clearly have some learning disability. Although the overall mean IQ is reduced, severe mental retardation is uncommon. Graduation from college and achievement of Ph.D. degrees have been reported.

54. California Wild Spring 1999 - Counterpoints All human males have the Y chromosome of one male ( Adam ) who lived in Africa at This condition, called turner s syndrome, is one of those natural http://www.calacademy.org/calwild/1999spring/stories/counterpoints.html

The Magazine of the CALIFORNIA ACADEMY OF SCIENCES CURRENT ISSUE SUBSCRIBE ... CALIFORNIA WILD counterpoints Why the Y Jerold Lowenstein Sex and politics make an intoxicating brew for the public and the paparazzi. Lately scientists have joined the cocktail party too, adding a shot of genetic snooping to the mix. Within a few short years, DNA fingerprinting has become a standard technique for determining paternity. Now, thanks to cutting-edge chromosomal research, prying geneticists have established that Thomas Jefferson fathered at least one son by his slave Sally Hemings. Sally herself was the daughter of Jefferson's father-in-law. Rumor and speculation about a sexual relationship between the author of the Declaration of Independence and his wife's half-sister has been rife for two centuries, but it took a molecular analysis of the Y chromosome, that icon of masculinity, to prove the case. The Y chromosomes of male descendants of the Jefferson and Hemings families are identical, which practically clinches Jefferson's paternity. Why use the Y chromosome for this historical outing?

55. Obstetrical & Gynecological Survey - UserLogin About the turner syndrome, the authors note that the mammalian X and Y and point to a greater understanding of turner syndrome, male infertility, http://www.obgynsurvey.com/pt/re/obgynsurv/fulltext.00006254-199804000-00016.htm

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56. Review Questions For Lecture 28 turner syndrome b. Kleinfelter syndrome c. Triple X female. d. XYY male. 17.Using nonlethal sex-linked markers, such as color blindness, devise genetic http://www.colorado.edu/MCDB/MCDB2150Fall/rq00/rq0028.html

MCDB 2150 Fall 2000 Review Questions Revised November 9, 2000 Lecture 28: Dosage Compensation, Sex-Limited, Sex-Influenced Inheritance 1. What is the Lyon hypothesis and how has its validity been demonstrated? 2. Describe the relationship among the following: Barr body, heterochromatin, late replication, dosage compensation, mosaicism. 3. Describe the major differences between dosage compensation in Drosophila and humans. 4. Describe three different types of human sex chromosome trisomy. What is the sex in each case? What are the major phenotypic traits in each case? Describe the genetic mechanisms that are responsible for the trisomy in each case. 5. Turner syndrome is the only viable human monosomy? a. How does Turner syndrome arise? b. Speculate on why individuals with Turner syndrome are viable when all other human monosomies are lethal. c. In view of your answer to part b, why do individuals with Turner syndrome enhibit any phenotypicdifferences from normal individuals. 6. What is a Barr body and what is its significance? 7. What mechanism makes human aneuploidies that involve sex chromosomes more viable than human aneuploidies that involve autosomes?

57. SBMJ | Beginner's Guide To Genetics: Sex And Genetics Sex determination is the genetic events leading to male or female gonadal turner s syndrome is caused by a total or partial absence of one member of the http://www.studentbmj.com/issues/04/11/education/400.php

skip navigation Need an article? student BMJ Home Current Issue - Editorials - News ... Subscribe Interactive Article Response International Experience Careers Zone Write For Us Author Guidelines How To Write About Us About student BMJ Posters Contact Us ... Accessibility Out There Links Notice Board Beginner's guide to genetics: Sex and genetics In the third part of our series, and colleagues explain the genetic bases of sexual development Throughout history, humans have tried to discover differences between men and women, and how this determines the nature of sex. In the last century, scientists began to unlock the molecular and genetic mechanisms of sexual development. This process has not been so simple, however; sexual development consists of an orchestrated, ordered, and interrelated cascade of events. The first step is the establishment of genetic sex (XX or XY). This results when a spermatozoid with an X or Y chromosome (genetic sex) fertilises an oocite, which carries an X chromosome. The second step is development of sex gonads. At the beginning of this step, regardless of genetic sex, embryos develop a bipotential primordiuma structure in the forming embryo that can turn into female or male gonad. This then differentiates to form the testis in XY embryos or the ovary in XX embryos, thereby defining gonadal sex. The last step is phenotypical sexual differentiation, when sexual external and internal genitalia develop due to hormones secreted by the gonad, resulting in the physical characteristics of each specific sex.

58. By: Simon Ewins To: Johnny Mckinney Re: Check It Out... JM+gt; This Is A More Ki males suffering from Klinefelter s syndrome have both the male (XY) and the female turner s syndrome females have only one X chromosome instead of two. http://www.skepticfiles.org/gay/gender.htm

By: Simon Ewins To: Johnny Mckinney Re: Check It Out... JM+gt; This is a more kinder way o givecookie("BodyThetans", "Skeptic Tank Archives") E-Mail Fredric L. Rice / The Skeptic Tank

59. Science Blog -- Study Paints New Picture Of Y Chromosome As A Safe Haven For Mal Study Paints New Picture Of Y Chromosome As A Safe Haven For male Fertility Genes First Evolutionary Strategy Implications for turner syndrome http://www.scienceblog.com/community/older/1997/B/199702067.html

From: Whitehead Institute for Biomedical Research Study Paints New Picture Of Y Chromosome As A Safe Haven For Male Fertility Genes For decades scientists thought that the human Y chromosome, the male sex chromosome, was nothing more than a smaller, less stable version of its partner, the X (the sex chromosome present in both females and males). However, new research led by Dr. David Page, member of the Whitehead Institute for Biomedical Research, and associate investigator of the Howard Hughes Medical Institute, reverses this unflattering picture of the Y and reveals it as a crucial player in the evolution of sex chromosomes and also as a safe haven for male fertility genes. These results are not only generating a new respect for the Y chromosome but also could lead to novel diagnostic techniques for thousands of infertile men. The results also have profound implications for understanding the genetic differences between men and women and the genetic underpinnings of chromosomal disorders such as Turner syndrome. In the October 24 issue of Science, Dr. Page and first author Dr. Bruce Lahn report that a systematic search of the Y chromosome yielded 12 novel genes in the non-recombining region of the Y (NRY)a region of the Y, that unlike other chromosomes, does not undergo recombination, or exchange genetic material with its partner, the X. Along with eight previously identified genes, the 12 novel genes compose a substantial, nearly comprehensive catalog of genes found in the NRY (which constitutes 95 percent of the Y chromosome). The scientists found that the 12 genes they discovered could readily be sorted into two categories. Genes in the first group are expressed in many organs, are copies of genes found in the X, and perform housekeeping functions. The second group consisted of genes that are expressed only in the testes, are exclusive to the Y, and probably are responsible for enhancing male fertility.

60. Noonan Syndrome - Turner Syndrome, Male - Information Page With HONselect A multifaceted disorder characterized by short stature, webbed neck, ptosis, ske http://www.hon.ch/HONselect/RareDiseases/EN/C05.660.207.690.html

InitBulle("navy","#F8F8F8","#000066",1); HONcode sites All Web sites HONselect News ... Images HONselect Search English French German Spanish Portuguese the word the part of word in MeSH term in MeSH term and description Information on "Noonan Syndrome": Medical hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials Hierarchy English French German Spanish Portuguese Noonan Syndrome Definition: A multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM , multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS ), and some degree of MENTAL RETARDATION . The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. However, Noonan syndrome occurs in both males and females with a normal sex chromosome constitution (46,XX and 46,XY). NS1 is due to mutations at chromosome location 12q24.1, in PTPN11, a gene encoding the non-receptor type 11 PROTEIN TYROSINE PHOSPHATASE. LEOPARD SYNDROME , a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 (

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