21. Penn State Faculty Research Expertise Database (FRED) Female PseudoTurner Syndromes, male turner syndrome. Male Turner s Syndrome,Pseudo-Turner Syndrome, Female. Pseudo-Turner Syndromes, Female, Syndrome, http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D009634

22. Noonan Syndrome Noonan Syndrome. Synonynms. webbed neck syndrome. male turner syndrome.female pseudoTurner syndrome. Jacqueline Noonan, paediatrician and heart specialist http://www.manbir-online.com/diseases/noonan.htm

Sorry, your browser doesn't suppor Java. Noonan Syndrome Synonynms webbed neck syndrome male Turner syndrome female pseudo-Turner syndrome Jacqueline Noonan, paediatrician and heart specialist in 1963, published a report on a small group of patients with typical facies, congenital heart defect, and some clinical features similar to Turner syndrome, but with normal chromosomes. Its after her that this syndrome has been named. Noonan syndrome is inherited as an autosomal dominant condition. This means that the Noonan gene is on a non-sex (autosomal) chromosome and is transmitted from parent with a 50% probability to child. Although one dose of the Noonan gene is enough to cause the syndrome. A gene for Noonan syndrome (NS1) has been mapped to chromosome number 12. There are several different Noonan genes. The frequency of the Noonan syndrome is estimated to be between 1:1,000 and 1:2,500 in the general population Main features of this syndrome are: Pulmonary Stenosis Short stature after birth Webbing of Neck Caved in Chest Bones In boys, Testes that do not descend into the scrotum

23. THE MERCK MANUAL--SECOND HOME EDITION, Noonan Syndrome In Ch. 266, Chromosomal A In the past, Noonan syndrome was called male turner syndrome. Boys or girlscan be affected. The gene responsible for Noonan syndrome has been localized http://www.merck.com/mmhe/sec23/ch266/ch266e.html

var externalLinkWarning = "The link you have selected will take you to a site outside Merck and The Merck Manuals.*n*nThe Merck Manuals do not review or control the content of any non-Merck site. The Merck Manuals do not endorse and are not responsible for the accuracy, content, practices, or standards of any non-Merck sources."; Search The Second Home Edition , Online Version Search Index A B C D ... Z Sections Accidents and Injuries Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders ... Women's Health Issues Resources Anatomical Drawings Multimedia Pronunciations Weights and Measures ... , Online Version Section Children's Health Issues Chapter Chromosomal and Genetic Abnormalities Topics Introduction Down Syndrome Fragile X Syndrome Klinefelter Syndrome ... Long QT Syndrome Noonan Syndrome Triple X Syndrome Turner Syndrome XYY Syndrome Noonan Syndrome Buy The Book Print This Topic Email This Topic Noonan syndrome is a genetic defect that causes a number of physical abnormalities, usually including short stature, heart defects, and an abnormal appearance. Noonan syndrome can be inherited or can develop unpredictably in children whose parents have normal genes. Although children with the syndrome have normal chromosomal structure, they have many characteristics typical of Turner syndrome. In the past, Noonan syndrome was called "male Turner syndrome." Boys or girls can be affected. The gene responsible for Noonan syndrome has been localized to chromosome 12.

24. Birth Disorder Information Directory - N Noonan Syndrome (Female PseudoTurner Syndrome, male turner syndrome, TurnerPhenotype with Normal Karyotype). List of Sites http://www.bdid.com/defectn.htm

HOME N N-Acetylglutamate Synthetase Deficiency N-acetylglutamate synthetase deficiency HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY N5-Methylhomocysteine Transferase Deficiency See Methionine Synthase Deficiency NADH-CoQ Reductase Deficiency of (Complex I Mitochondrial Respiratory Chain, Deficiency of) COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF NADH-CoQ reductase Naegeli (Franceschetti Jadassohn) Syndrome NAEGELI SYNDROME Nager Syndrome See Acrofacial Dystenosis, Nager Type Naguib Richieri Costa Syndrome See Acro Fronto Facio Nasal Dysostosis Nail-Patella Syndrome (Fong Disease) List of Sites Najjar Syndrome See Cardiogenital Syndrome Nakajo Nishimura Syndrome (Amyotrophy Fat Tissue Anomaly) Amyotrophy fat tissue anomaly Nance Horan Syndrome (Cataract-Dental Syndrome; Cataract, X-Linked, with Hutchinsonian Teeth; Mesiodens-Cataract Syndrome) CATARACT-DENTAL SYNDROME Nance-Horan syndrome Nance Insley Syndrome (Chondrodystrophy with Sensorineural Deafness, Nance Sweeny Chondrodysplasia, Otospondylomegaepiphyseal Dysplasia) CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS Chondrodystrophy sensorineural deafness Nance Sweeny Chondrodysplasia See Nance Insley Syndrome Nanism Due to Growth Hormone Isolated Deficiency See Growth Hormone Deficiency Nanocephalic Dwarfism See Bird-Headed Dwarfism Nanophthalmia/Nanophthalmos Autosomal Recessive See Anophthalmia/Anophthalmos, Clinical

25. Noonan Syndrome - Genetics Home Reference familial Turner syndrome; Female PseudoTurner Syndrome; male turner syndrome;Noonan-Ehmke syndrome; pseudo-Ullrich-Turner syndrome; Turner-like syndrome http://ghr.nlm.nih.gov/condition=noonansyndrome

Home What's New Browse Handbook ... Search Noonan syndrome Related Gene(s) Quick links to this topic MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs PubMed Recent literature OMIM Genetic disorder catalog References Noonan syndrome On this page: What is Noonan syndrome? How common is Noonan syndrome? ... help with understanding Noonan syndrome? What is Noonan syndrome? Noonan syndrome is a developmental disorder characterized by unusual facial characteristics, short stature, heart defects, bleeding problems, and skeletal malformations. Eye abnormalities can occur in up to 95 percent of patients. Problems with language and speech are common. Most males with this disorder have undescended testicles (cryptorchidism). The majority of children diagnosed with Noonan syndrome have normal intelligence, but a small percentage have special educational needs, and some affected individuals are mildly mentally retarded. How common is Noonan syndrome?

26. Heart And Circulation - Genetics Home Reference LQT7 see AndersenTawil syndrome; Lysyl-hydroxylase deficiency see Ehlers-Danlossyndrome, kyphoscoliosis type; male turner syndrome see Noonan syndrome http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/heartandcirculation

Home What's New Browse Handbook ... Search Browse Browse Conditions By Name By Category Browse Genes By Symbol By Full Name By Category Browse Chromosomes Heart and circulation The circulation system is composed of the heart, blood vessels (arteries, veins, and capillaries), and blood. The circulatory system delivers oxygen and nutrients to cells and carries away waste. Altered genes may disrupt the development or function of the circulatory system. Alagille syndrome Alpha-galactosidase A deficiency see Fabry disease Andersen cardiodysrhythmic periodic paralysis see Andersen-Tawil syndrome Andersen syndrome see Andersen-Tawil syndrome Andersen-Tawil syndrome Anderson-Fabry Disease see Fabry disease Angiokeratoma Corporis Diffusum see Fabry disease Angiokeratoma diffuse see Fabry disease Arachnodactyly see Marfan syndrome Arteriohepatic Dysplasia see Alagille syndrome Arthrochalasis multiplex congenita see Ehlers-Danlos syndrome, arthrochalasia type ATS see Andersen-Tawil syndrome Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome Ayerza Syndrome see primary pulmonary hypertension Bartholin-Patau syndrome see Patau syndrome BDLS see Cornelia de Lange syndrome Bile ducts paucity, syndromic form

27. MedlinePlus Medical Encyclopedia: Noonan Syndrome affects females Noonan syndrome used to be called male turner syndrome . If there are any signs of Noonan or Turner syndrome ask your health care http://www.nlm.nih.gov/medlineplus/ency/article/001656.htm

@import url(/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Noonan syndrome Contents of this page: Illustrations Definition Causes, incidence, and risk factors Symptoms ... Prevention Illustrations Pectus excavatum Definition Return to top Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. In particular there is webbing of the neck and different shapes to the chest that are reminiscent of Turner syndrome, hence the former name Turner-like syndrome. Causes, incidence, and risk factors Return to top Noonan syndrome can be inherited in an autosomal dominant manner. It affects at least 1 in 2,500 children. The fact that some children do not have a parent with Noonan syndrome likely reflects sporadic inheritance, that is, the presumed occurrence of a new mutation. The first specific gene that causes Noonan syndrome, called PTPN11, was discovered in 2001. It is expected that other genes will be discovered that cause Noonan syndrome. Frequently-seen abnormalities include webbing of the neck, changes in the sternum (usually a sunken chest called pectus excavatum), facial abnormalities, and congenital

28. Turner Syndrome X + X = FEmale; Y + X = male; X + 0 = FEmale (turner syndrome); Y + X + X =male (Klinefelter syndrome). What s the key feature? http://gslc.genetics.utah.edu/units/disorders/karyotype/turnersyndrome.cfm

Genetic Science Learning Center at The University of Utah Home About Us Feedback ... What Can Our Chromosomes Tell Us? Turner Syndrome Turner Syndrome Turner Syndrome affects 60,000 girls and women in the United States. This disorder occurs in 1 in 2000 to 1 in 2500 live births, with about 800 new cases diagnosed each year. Symptoms include short stature and lack of ovarian development. Other features, such as webbed neck, arms that turn out slightly at the elbow, and a low hairline in the back of the head are sometimes seen. Women and girls with Turner Syndrome have only one X chromosome . This is an example of monosomy See the box below to learn more about how the gender of an individual is determined. Where does the single X chromosome come from? In 75 to 80 percent of cases, the single X chromosome comes from the mother's egg because the father's sperm that fertilizes the egg is missing a sex chromosome. How do chromosomes determine the gender of an individual? It took scientists a long time to work out the puzzle of how sex chromosomes determine an individual's gender. Here's the evidence: X + X = FEMALE Y + X = MALE X + = FEMALE (Turner Syndrome) Y + X + X = MALE (Klinefelter Syndrome) What's the key feature? What chromosomes do the males have that the females don't have?

29. EMedicine - Noonan Syndrome : Article By Jennifer Ibrahim, MD These patients were previously thought to have a form of turner syndrome, withwhich Noonan More than half of male patients have undescended testes. http://www.emedicine.com/ped/topic1616.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Noonan Syndrome Last Updated: October 30, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: hypertelorism, down-slanting eyes, webbed neck, congenital heart disease AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Jennifer Ibrahim, MD , Fellow, Department of Pediatrics, Division of Genetics, Children's Hospital of New Jersey and Mount Sinai School of Medicine Coauthor(s): Margaret McGovern, MD, PhD , Vice Chair, Associate Professor, Department of Human Genetics, Mount Sinai School of Medicine Jennifer Ibrahim, MD, is a member of the following medical societies: American Society of Human Genetics Editor(s): Elaine H Zackai, MD , Director of Clinical Genetics Center, Professor of Pediatrics, Department of Pediatrics, Division of Human Genetics and Molecular Biology, University of Pennsylvania, Children's Hospital of Philadelphia; Robert Konop, PharmD

30. HGF - Turner Syndrome The common name for this condition is turner syndrome, after Dr. turner. The sex chromosomes determine whether an individual is male or female; http://www.hgfound.org/turner.html

Note: The hardcopy of the booklet contains additional diagrams and photos. Turner Syndrome INTRODUCTION There are many possible reasons why a child may grow slowly, including: hereditary factors (short parents), diseases affecting the kidneys; heart, lungs or intestines; hormone imbalances; severe stress or emotional deprivation; infections in the womb before birth; bone diseases; and genetic or chromosomal abnormalities. The purpose of this booklet is to examine one of the common genetic disorders associated with short stature. In 1938, Dr. Henry Turner recognized a pattern of short stature and incomplete sexual maturation in otherwise normal females. The common name for this condition is Turner syndrome, after Dr. Turner. A syndrome is a set of features often found in association with each other and believed to stem from the same cause. Turner syndrome is a genetic disorder that results from an abnormality of a chromosome. Chromosomes are thin strands of material found in the nucleus of each cell. They contain the genes that determine each person's characteristics. Every individual has 22 pairs of chromosomes and 1 pair of sex chromosomes (called X and Y). The sex chromosomes determine whether an individual is male or female; they influence height as well as development of sexual organs. A female ordinarily has 2 X chromosomes, while a male has one X and one Y chromosome.

31. Morgagni-Turner-Albright Syndrome (www.whonamedit.com) Also known as Morgagniturner syndrome,Schereshevskii-turner syndrome turner s syndrome there are rare occurances of a male turner s syndrome with http://www.whonamedit.com/synd.cfm/1064.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Morgagni-Turner-Albright syndrome Also known as: Morgagni-Turner syndrome Schereshevskii-Turner syndrome Turner's syndrome Turner-Albright syndrome Turner-Vary syndrome Ullrich-Turner syndrome Morgagni-Shereshevskii-Turner-Albright syndrome Synonyms: Chromosome XO syndrome, congenitally absent ovaries, genital dwarfism, gonadal agenesis, gonadal dysgenesis, monosomy X syndrome, ovarian aplasia, ovarian dwarfism, ovarian short stature syndrome, primary ovarian insufficiency, pseudonuchal infantilism, pterygolymphangiectasia syndrome, pterygonuchal infantilism, rudimentary ovary syndrome, XO syndrome. Associated persons: Fuller Albright Giovanni Battista Morgagni Nikolai Adolphovich Shereshevskii Henry Hubert Turner ... Unknown Vary Description: Congenital endocrine disorder caused by failure of the ovaries to respond to pituitary hormone stimulation. Clinically there is short stature (105-130 cm); absence of secondary sexual characteristics, with infantile development of the vagina, uterus and breast; failure of sexual maturation, webbing of the neck and inconsistent cardiac defects. Intelligence may be impaired. Ocular abnormalities include strabismus and nystagmus; cardiac abnormalities are coarctation of aorta (70%), or other cardiovascular lesions almost constantly affecting left heart. Lymphedema of extremities (30-40%). Occasionally, anomalies of bone development such as protuberance of sternum, high palate, underdeveloped mandible.

32. Discovery Health :: Diseases & Conditions :: Turner Syndrome turner syndrome is a genetic disorder caused by the lack of an X chromosome One of these 23 pairs determines whether a person will be a male or a female http://health.discovery.com/encyclopedias/illnesses.html?article=2748&page=1

33. Turner's Phenotype In The Male -- Ferrier And Ferrier 40 (4): 575 -- Pediatrics Arbitrarily one may limit the definition of turner s syndrome to females with the male also; since that time the appellation of male turner s syndrome http://pediatrics.aappublications.org/cgi/content/abstract/40/4/575

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Ferrier, P. E. Articles by Ferrier, S. A. Pediatrics, Oct 1967, 575-585, Vol 40, No. 4 Turner's phenotype in the male PE Ferrier and SA Ferrier Department of Pediatrics, University of Washington, Seattle, Washington 98105. In the female, sexual infantilism due to ovarian dysgenesis, somatic growth retardation, neck webbing, lymphedema of the extremities, nail dystrophy, and various congenital cutaneous, skeletal, renal, and cardiovascular anomalies constitute an entity commonly designated by the eponym of Turner's syndrome and most often associated with a 45-XO chromosome constitution. Remarkably enough, some of the preceding characteristics are

34. Down-Turner Syndrome: Case Report And Review -- Van Buggenhout Et Al. 31 (10): 8 We present a male patient with Downturner mosaicism (45,X/46,X,+21/47,XY,+21) and Clinical features of Down s syndrome were present in all cases, http://jmg.bmjjournals.com/cgi/content/abstract/31/10/807

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Van Buggenhout, G. J. Articles by Smeets, D. F. Journal of Medical Genetics, 1994, Vol 31, 807-810 ARTICLES Down-Turner syndrome: case report and review GJ Van Buggenhout, BC Hamel, JC Trommelen, H Mieloo and DF Smeets Department of Human Genetics, University Hospital Nijmegen, The Netherlands. We present a male patient with Down-Turner mosaicism (45,X/46,X,+21/47,XY,+21) and review 27 similar cases reported so far. Clinical features of Down's syndrome were present in all cases, whereas a

35. Turner's Syndrome Pediatric Oncall A.1 turner’s syndrome is a genetic disorder characterized by predominantly short A female usually has XX chromosomes whereas a male has XY chromosomes. http://www.pediatriconcall.com/fordoctor/DiseasesandCondition/turner_syndrome.as

DOCTOR CORNER Search GO Home Back Ask Doctor Post Query Education Image Gallery Teaching Files Question of the day Specialist Answers Latest Updates Conference Journal Search Original Articles Clinical Trials Search For Pediatricians Hospitals Special Schools Drug Index ... Sign Out UserName Password New Register Forgot password Dr Ira Shah M.D, DCH(Gold Medalist), FCPS, DNB short stature in girls. In Turners syndrome, one of the X-chromosomes is missing or misshapen in most of the cells in the body. This is due to a biological accident, the reason for which is usually not found. THUS, NEITHER PARENT IS RESPONSIBLE FOR THIS AND CAN DO NOTHING TO PREVENT THIS FROM HAPPENING. Q.3 How does a child with Turners syndrome present? However, . Some only have short stature and no other physical findings. Q.4 What is the cause of short stature in Turners syndrome? For further details – See "

36. Pediatric Oncall- TURNER'S SYNDROME What is turner s syndrome? Information about approach to a child with turner s A female usually has XX chromosomes whereas a male has XY chromosomes. http://www.pediatriconcall.com/forpatients/CommonChild/turner_syndromepat.htm

In Turners syndrome, one of the X-chromosomes is missing or misshapen in most of the cells in the body. This is due to a biological accident, the reason for which is usually not found. THUS, NEITHER PARENT IS RESPONSIBLE FOR THIS AND CAN DO NOTHING TO PREVENT THIS FROM HAPPENING. Q.3 How does a child with Turners syndrome present? However, . Some only have short stature and no other physical findings. Q.4 What is the cause of short stature in Turners syndrome? For further details – See "Puberty in girls " Q.5 Is it true that women with Turners syndrome cannot conceive? A.5 Since, girls with Turners syndrome have undeveloped ovaries; they are likely to be infertile, although there are rare cases of women with Turners syndrome having children. However, the uterus (womb) and vagina are normal, hence, their sexual function is unaffected. In vitro fertilization and embryo transplants offer the opportunity to carry a child through pregnancy and giving birth. Q.6 I have heard the children with Turners syndrome have subnormal intelligence. Is it true? A.6 Children with Turners syndrome are not mentally retarded. They may have problems of visualization and defining objects in relation to each other. Thus, they may have a poor performance in maths, geometry and have a poor sense of direction. Psychological testing done early can help these children so that teachers can pay special attention to the child to compensate for any problem that may exist.

37. XyTurners - Genetic Mosaics Support Group turner s syndrome occurs when a woman has only a single X chromosome (XO) in who are a mosaic of XY cells (male) and XO cells (turner s syndrome female) http://www.xyxo.org/

About genetic mosaics Each cell in the human body has bits of genetic material called chromosomes. Most people have the same set of chromosomes in every cell. Sometimes, however, a person has more than one cell line. This is called genetic mosaicism. An error in cell division may result in cells with different genetic codes. Or, two fertilized eggs, rather than resulting in twins, may grow together into a single person. Two of the chromosomes are called sex chromosomes because of their role in helping to determine the sex of a person. Ordinarily a woman has two X chromosomes (XX); a man one X and one Y chromosome (XY). Turner's syndrome occurs when a woman has only a single X chromosome (XO) in each cell. When a person has a Y chromosome in some cells and not others, the resulting condition is called xy-Turners, Mixed Gonadal Dysgenesis, mosaic XY/XO, or simply XY/XO. About XY/XO mosaics The overwhelming majority of people who are a mosaic of XY cells (male) and XO cells (Turner's syndrome female) are externally normal males. Approximately 5% are female with Turner's syndrome and approximately 5% are born with ambiguous genitals. XO girls have non-functional 'streak' ovaries. An XY/XO baby may have a streak ovary, a testis, or an ovatestis on either side. The majority of XY/XO babies born with normal male genitals also have normal testes, although they may have reduced fertility. Any XY/XO child may have any of the medical conditions that are more common among girls with Turner's syndrome. These include short stature, heart malformations, and kidney malformations. Whether or not and how a child is affected depends on the distribution of their cell lines during fetal development. Once again, most XY/XO children appear to be normal, healthy boys.

38. Turner's Syndrome: A Case Study By: Carolyn Duda turner s syndrome is a genetic disorder that affects about one in every 2000 to have the same amount of Xchromosome material as the average male has. http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997 Case Studies/C.Duda.ht

Turner's Syndrome: A Case Study by: Carolyn Duda Turner's Syndrome is a genetic disorder that affects about one in every 2000 females born. A female with a normal genetic make-up has two X-chromosomes in each of her cells, one which she received from her father and one which she received from her mother. On the other hand, the typical female with Turner's Syndrome has only one X-chromosome in each of her cells due to a nondisjunction event during meiosis of her parents' gametes. There are several variations on this theme as other similar chromosome anomalies occur in a smaller percentage of females with Turner's Syndrome. Depending on the degree of nondisjunction of her parents' gametes, the genetic make-up of a Turner's patient can vary. As discussed above, the majority of patients have only one X-chromosome in all of their cells and thus they are karyotyped 45,XO. The cells in about 15 percent of Turner's patients contain a normal X chromosome plus an X-isochromosome. This isochromosome consists of the two long arms of the X-chromosome but no short distal arm. These individuals are karyotyped 46,XXp- (Nora and Fraser, 1989). Lyon hypothesized that early in the development of a normal female embryo, random inactivation of one of the two X-chromosomes in each cell occurs. This allows the female to have the same amount of X-chromosome material as the average male has. Recent studies have shown that there are genes on the X-chromosome which escape this inactivation. While there are genes located in various regions of the X-chromosome which escape inactivation (Davies, 1991), many of these genes are located on the short distal arm (Brown and Willard, 1990). In this way, the normal female has functioning genes from one complete X-chromosome plus functioning genes from the still active short distal arm of the mostly inactivated X-chromosome. On the other hand, females with the X-chromosome without this short distal arm lack the genes which would normally have remained active. As a result, a female with this X-isochromosome displays the same phenotype as the typical Turner's female who has only one X-chromosome.

39. NOVA Online | Sex: Unknown | The Intersex Spectrum Like Klinefelter syndrome, turner syndrome is marked by an abnormal karyotype, If all of the proper stages of normal male sex differentiation occur, http://www.pbs.org/wgbh/nova/gender/spectrum.html

The Intersex Spectrum By Carl Gold Physical gender is not always just a matter of XX or XY, girl or boy. In approximately one out of every 100 births, seemingly tiny errors occur during the various stages of fetal sex differentiation, causing a baby's body to develop abnormally. Problems in the formation of chromosomes, gonads, or external genitals can lead to a range of intersex conditions. The most common and well-researched of these conditions are explained below. For information on intersex conditions not mentioned here, see http://www.hopkinsmedicine.org/pediatricendocrinology/. Congenital Adrenal Hyperplasia (CAH) One in 13,000 births Testosterone Biosynthetic Defects One in 13,000 births In a condition related to CAH, some 46,XY individuals do not have the properly functioning enzymes needed to convert cholesterol to testosterone. When such enzymes prove completely incapable of creating testosterone, the genitals appear female; when the enzymes function at a low level, ambiguous genitals form. Androgen Insensitivity Syndrome (AIS) One in 13,000 births

40. Searle Scholar Profile : David C. Page (1989) Germ Cell Development and male Infertility Three percent of men are infertile turner syndrome turner syndrome, classically associated with an XO http://www.searlescholars.net/people/1989/page.html

Search: current former scholar current awarded institution quick search David C. Page Professor Whitehead Institute Massachusetts Institute of Technology Nine Cambridge Center Cambridge, MA 02142 Voice: 617/258-5203 Fax: 617/258-5578 E-mail: page@wi.mit.edu Personal Homepage 1989 Searle Scholar Molecular Biology of Germline Determination and Gametogenesis Germ cells occupy a central position in development, heredity, and evolution. In mammals, germ cells are first recognizable outside the portion of the embryo that will form the body. These primordial germ cells invade the developing body and migrate to the gonads, which at that stage are indistinguishable in males and females. The gonads differentiate into ovaries or testes. In parallel, the primordial germ cells become committed to give rise to oocytes or sperm. We use genetic tools to explore the development of the mammalian reproductive tract. While much of our research has focused on the mechanism by which the ovarian or testicular fate of the embryonic gonad is decided, our studies are increasingly directed toward understanding the mechanisms by which primordial germ cells give rise to gametes. ZFX and ZFY: These genes, located on the X and Y chromosomes of all placental mammals, encode distinct but closely related proteins containing a highly acidic domain and 13 zinc fingers. The proteins likely function as sequence-specific activators of transcription. ZFY and ZFX were originally implicated in sex determination, but present evidence argues against such a role. Instead, our gene targeting experiments in mice suggest that ZFX contributes to early embryonic growth, animal size, and germ cell number in both males and females. Studies of these genes may also shed light on the evolution of X inactivation: while the mouse Zfx gene is X-inactivated, human ZFX is expressed on both "active" and "inactive" human X chromosomes.

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