21. Clinical Study: 90-CH-0123, Estrogen Effects On Cognition In Girls With Turner S turner syndrome. Sponsoring Institute National Institute of Child Health and Human Development (NICHD). Recruitment Detail. Type Active Accrual Of New Subjects. Gender male http://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_90-CH-0123.html

22. What If We Have Too Many Or Too Few Chromosomes? Individuals with turner's syndrome have a single X chromosome Medical problems associatedwith Down syndrome include mental X and one Y, you develop as male. http://gslc.genetics.utah.edu/units/disorders/karyotype/abnormal.cfm

23. Turner's Syndrome: A Case Study By: Carolyn Duda turner's syndrome A Case Study. by Carolyn Duda. turner's syndrome is a genetic disorder that affects Xchromosome material as the average male has. Recent studies have shown http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997%20Case%20Studies/C.Dud

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.

24. Genes And Disease Disorders (male) Pressure. Inflammatory Bowel Disease, Kleinfelter's syndrome. PsychiatricDiseases, Sickle Cell Disease. Thalassaemia, turner's syndrome. home http://www.thehealthyforum.com/bodymapssec/genes_s.html

the healthyforum .com return to the genes and disease genetically determined disorders return to holistic Arthritis Asthma and Allergy Cancer Cystic Fibrosis Diabetes Mellitus Down's Syndrome Fragile X Syndrome Haemophilia Hereditary Spherocytosis High Blood Pressure Inflammatory Bowel Disease Kleinfelter's Syndrome Psychiatric Diseases Sickle Cell Disease Thalassaemia Turner's Syndrome home WIS body maps search ... contact us

25. True Hermaphroditism Definition Delayed Adolescence in Phenotypic male or Female; Girls Delayed lessthan chronological age. Diagnosis Girls turner's syndrome; Boys Klinefelter's http://www.fpnotebook.com/END167.htm

Home About Links Index ... Editor's Choice Paid Advertisement (click above). Please see the privacy statement Endocrinology Sex Pituitary Disease Assorted Pages Ambiguous Genitalia Female Pseudohermaphroditism Male Pseudohermaphroditism True Hermaphroditism ... Gynecomastia True Hermaphroditism Book Home Page Cardiovascular Medicine Dental Dermatology Emergency Medicine Endocrinology Gastroenterology General Medicine Geriatric Medicine Gynecology Hematology and Oncology HIV Infectious Disease Jokes Laboratory Neonatology Nephrology Neurology Obstetrics Ophthalmology Orthopedics Otolaryngology Pediatrics Pharmacology Prevention Psychiatry Pulmonology Radiology Rheumatology Sports Medicine Surgery Urology Chapter Endocrinology Index Adrenal Disease General Cardiovascular Medicine Diabetes Mellitus Examination Ophthalmology Geriatric Medicine Growth Hematology and Oncology Hypoglycemia Laboratory Metabolism Neonatology Obesity Obstetrics Parathyroid Disease Pediatrics Pharmacology Pituitary Disease Prevention Radiology Nephrology Sex Sports Medicine Surgery Symptom Evaluation Thyroid Disease Page Sex Index Ambiguous Genitalia Ambiguous Hermaphrodite Female Ambiguous Hermaphrodite Male Ambiguous Hermaphrodite True Gonadal Dysgenesis Klinefelter Gonadal Dysgenesis Turners Syndrome Pituitary Kallmann Puberty Delay Puberty Delay Eugonadotropic Puberty Delay Hypergonadotropic Puberty Delay Hypogonadotropic Puberty Early Puberty Early Causes Puberty Early Causes Adrenarche Puberty Early Causes Thelarche Pathophysiology Karyotype most often 46XX Y DNA translocated to X

26. HGF - Turner Syndrome turner syndrome is a genetic disorder that results from an abnormality of a chromosome Y).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.

27. EMedicine - Gonadoblastoma : Article Excerpt By: Dimitri Kuznetsov, MD insensitivity, male pseudohermaphrodites, male pseudohermaphroditism, male pseudohermaphrodism,mixed gonadal dysgenesis, turner syndrome, turner’s syndrome http://www.emedicine.com/ped/byname/gonadoblastoma.htm

(advertisement) Excerpt from Gonadoblastoma Synonyms, Key Words, and Related Terms: intersex disorders, germinoma, seminoma, gonadal dysgenesis, complete androgen insensitivity, male pseudohermaphrodites, male pseudohermaphroditism, male pseudohermaphrodism, mixed gonadal dysgenesis, Turner syndrome, Turner’s syndrome, germ cell tumors Please click here to view the full topic text: Gonadoblastoma Background: In 1953, Scully first described a unique gonadal neoplasm that strongly resembled a normally developing gonad and subsequently named the neoplasm gonadoblastoma. Gonadoblastoma is a rare benign tumor that has the potential for malignant transformation and affects a subset of patients with intersex disorders. The select intersex syndromes associated with a clear risk of developing gonadoblastoma are (1) complete androgen insensitivity/male pseudohermaphroditism (46,XY), (2) mixed gonadal dysgenesis (45,X/46,XY), and (3) a subset of patients with Turner syndrome (45,XO). The 2 essential findings that predispose these abnormal gonads to undergo neoplastic transformation into gonadoblastoma are (1) the karyotype has either macroscopic or molecular evidence of a Y chromosome and (2) the gonads nearly always are located intra-abdominally. Histologically, the following 2 distinct cell types characterize these tumors: (1) large germ cells (similar to dysgerminoma and seminoma) and (2) small cells, which resemble immature Sertoli or granulosa cells. Additionally, in two thirds of patients, Leydig-type cells are found in the stromal component of the tumor and are thought to be responsible for frequent virilizing features in these patients. While gonadoblastoma has normal germinal and stromal characteristics, some of the germ cells are large and have numerous mitotic figures that resemble classic testicular seminoma. In fact, as these cells overgrow the surrounding stroma, the tumor gains the characteristics of a more aggressive lesion and acquires the potential for metastatic spread.

28. Gender Identity, Klinefelder's Syndrome, Turner's Syndrome Across the gender spectrum, it's possible for a person to function as male orfemale. About gender identity,Klinefelder's syndrome, turner's syndrome. http://www.healthyplace.com/communities/gender/intersexuals/article_gender_2.htm

Inside Intersexuality Home About Me Intersexuality FAQ Intersexuality ... to a friend Multi-Dimensionality of Gender Carl W. Bushong, Ph.D., LMFT, LMHC page 2 It is my contention that it is possible for an individual to view oneself and function as male or female to varying degrees in each of the five sub-categories independent of the others. For example, an individual may be XX female (chromosomal female), physically female, have a "female brain," be heterosexual but see her(him)self as maleor any other combination. One can be either male or female in each of the five sub-categories independent of each other. If we use "F" for female identity/function, and "M" for male identity/function and one through five for the semi-independent attributes listed above we could describe each individual according to their particular breakdown: A Gender Dysphoric, Morphological Male A Homosexual Male A Dominant, But Heterosexual, Even Feminine, Female Since each of these independent attributes are graded, it is easy to see the possible combinations and degrees number in the thousands With regard to gender, we each can be in a category of oneourselves.

29. Nature Publishing Group patient 5 . Thus, it is realistic to assume the presence of residual male or, inother cases, female cells in the brains of many turner's syndrome patients. http://www.nature.com/cgi-taf/DynaPage.taf?file=/nature/journal/v390/n6660/full/

30. Nature Publishing Group Box 1). Parents of our sample of turner's syndrome females and the parents ofagematched normal male and female comparisons completed the questionnaire. http://www.nature.com/cgi-taf/DynaPage.taf?file=/nature/journal/v387/n6634/full/

31. Diseases And Conditions -- Discovery Health -- Turner Syndrome turner syndrome is caused when a fertilized egg is missing one of the sex chromosomes. Oneof these 23 pairs determines whether a person will be a male or a http://health.discovery.com/diseasesandcond/encyclopedia/2748.html

Turner syndrome By Ronald J. Jorgenson, DDS, PhD, FACMG 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?

32. Health Library - Undescended Testicle They include cystic fibrosis, Kallman's syndrome, Klinefelter's syndrome,Noonan's syndrome (male turner's syndrome), and PraderWilli syndrome. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

33. MosTSboy 46, XY/45,X INTERPRETATION Mosaic Karyotype (male) showing 90% normal and 10% abnormal(45X) cells, which is consistent with mosaic turner syndrome and thus http://hometown.aol.com/mosTSmales

htmlAdWH('7004944', '120', '30'); htmlAdWH('7002240', '234', '60'); Main Create Edit Help mosaic Turner Syndrome males This page is being dedicated to the parents, relatives, and male children with mosTS. As you have already found, most of the medical field will tell you this is not possible, since Turner Syndrome is a female sex chromosome abnormality. Although as members of a family with a male diagnosed mosTS; we know it is possible and it is being diagnosed. It is my wish to make this diagnosis known to the general public and through my research make it much easier for others to learn more about male mosTS. If you wish to be included in my email list for updates, please join our egroup email list. Our first experience with mosTS was Sep 1989. Our 16 week fetus had died at 12 weeks, test results found: "Karyotype (K): mos 46, XY/45,X INTERPRETATION: Mosaic Karyotype (Male) showing 90% normal and 10% abnormal (45X) cells, which is consistent with mosaic Turner Syndrome and thus most frequently aborted very early in pregnancy." Our next experience was Oct 1990 with the next pregnancy.

34. ApolloLife - Features hypogonadism. They have a male identity but exhibit less masculine behavior compared to XY males. turner's syndrome. Approximately http://channels.apollolife.com/show.asp?NewAid=4377

35. Policy Statement testosterone determinations also may be helpful in confirming the male phenotype.Anticipatory Guidance Discuss the diagnosis of turner syndrome, the phenotype http://www.aap.org/policy/01149.html

Policy Statement Pediatrics Volume 96, Number 6 December, 1995, p 1166-1173 Health Supervision for Children With Turner Syndrome (RE9543) AMERICAN ACADEMY OF PEDIATRICS Committee on Genetics PHENOTYPE Table 1 ). Turner syndrome, however, is not always accompanied by distinctive features and most often is not diagnosed in infancy. Later in childhood, Turner syndrome may be suspected primarily because of short stature. Other prominent presenting features in teenage years are delayed puberty and delayed menarche, and in adult women, anovulation and infertility. A girl with 45,X Turner syndrome may manifest an X-linked recessive disorder because she has only one X chromosome. When a girl has an X-linked recessive disorder, therefore, the possibility of Turner syndrome caused by 45,X or a structural abnormality of an X chromosome should be considered. Cytogenetics MEDICAL TREATMENT Table 2 ), including the following: 1. Check the child's blood pressure and peripheral pulses during each physical examination. Although idiopathic hypertension is found in Turner syndrome, a careful search for cardiac or renal causes should be made. 2. Specifically check for serous otitis and otitis media on every visit, and, if present, institute aggressive treatment. Evaluate the child's hearing, especially if otitis has been present. Hearing loss, which is common in Turner syndrome, may be conductive or sensorineural.

36. Health Supervision For Children With Turner Syndrome Some genes involved in turner syndrome, however, seem to escape inactivation chromosome,which accounts for the normal growth and development in XY male embryos http://www.aap.org/policy/0202.html

Clinical Report Pediatrics Volume 111, Number 3 March 2003, pp 692-702 Health Supervision for Children With Turner Syndrome AMERICAN ACADEMY OF PEDIATRICS Clinical Report Guidance for the Clinician in Rendering Pediatric Care ABSTRACT. This report is designed to assist the pediatrician in caring for the child in whom the diagnosis of Turner syndrome has been confirmed by karyotyping. The report is meant to serve as a supplement to the American Academy of Pediatrics' "Recommendations for Preventive Pediatric Health Care" and emphasizes the importance of continuity of care and the need to avoid its fragmentation by ensuring a medical home for every girl with Turner syndrome. The pediatrician's first contact with a child with Turner syndrome may occur during infancy or childhood. This report also discusses interactions with expectant parents who have been given the prenatal diagnosis of Turner syndrome and have been referred for advice. ABBREVIATIONS. GH, growth hormone; MRI, magnetic resonance imaging; FSH, follicle-stimulating hormone; LH, luteinizing hormone. INTRODUCTION Turner syndrome, as used in this report, refers to a condition characterized by short stature and ovarian dysgenesis in females who have a single X chromosome and absence of all or part of the second sex chromosome (X or Y). Nonchromosomal gonadal dysgenesis is excluded. The birth prevalence of Turner syndrome has been estimated to be from 1 in 2000 to 1 in 5000 female live births. Approximately 1% to 2% of all conceptuses have a 45,X chromosome constitution. The majority (99%) of these spontaneously abort, usually during the first trimester of pregnancy. With the more frequent use of ultrasonography, it is recognized that some pregnancies with a fetal 45,X chromosome constitution progressing into the second trimester are associated with nuchal cysts, severe lymphedema, or hydrops fetalis. These pregnancies are associated with a high frequency of fetal death.

37. Zinn Lab Home Page 1997. Discriminant analysis of the Ullrichturner syndrome neurocognitive profile.Am J Med Genet 72275-280. Hum Mol Gen 9101-108. male infertility. http://www.swmed.edu/home_pages/facultystaff/zinn/

Laboratory of Dr. Andrew R. Zinn The lab of Andrew Zinn, M.D., Ph.D. studies genetic disorders of human growth and reproduction. The lab focuses on three main projects: Turner syndrome This human chromosome disorder involving the loss of one sex chromosome affects 1/2000 to 1/5000 live born girls and is a major cause of pregnancy wastage. Principle features include short stature, infertility, anatomic abnormalities, and specific deficits in visual-spatial and certain other cognitive abilities. We are collaborating with Dr. Judith Ross, M.D. at Thomas Jefferson University in Philadelphia to map specific genes responsible for various features of Turner syndrome by characterizing subjects with partial X deletions ("experiments of nature"). A related project involves the possible role of X-linked genes in premature menopause, a condition that affects at least one in every three hundred women. Fluorescent in situ hybridization of chromosomes from a woman with partial monosomy X. Probes: X chromosome paint (green) and X centromere (red). One X chromosome is missing

38. NOVA Online | Sex: Unknown | The Intersex Spectrum Other possible features of turner syndrome include short stature, webbing of theneck available If all of the proper stages of normal male sex differentiation 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

39. Xy-Turners - Articles On Medical Conditions Abstract. 45 XO/49 XYYYY mosaicism in a male with stigmata of turner'ssyndrome. turner's syndrome in the male with chromosomal mosaicism. http://www.xyxo.org/xyxo_files/pmmed.htm

Main About us Contact us FAQ ... Search our site Articles on medical conditions associated with mosaicism 45,X/46,XY gonadal dysgenesis in an infertile adult male. Gasso-Matoses M, Pico-Alfonso A, Fernandez-Garcia J, Lobato-Encinas J, Mira-Llinares A. Urol Int. Abstract 45 XO/49 XYYYY mosaicism in a male with stigmata of Turner's syndrome. Pincheira JV, Bustos-Obregon E, Pumarino H, Santos MA. Clin Genet. 1983 Nov;24(5):384-8. Abstract Cell line segregation in a 45,X/446,XY mosaic child with asymmetric leg growth. Papenhausen PR, Mueller OT, Bercu B, Salazar J, Tedesco TA. Clin Genet. 1991 Sep;40(3):237-41. Abstract Characteristic cardiovascular anomalies of XO Turner syndrome, XX and XY phenotype and XO-XX Turner mosaic. Nora JJ, Torres FG, Sinha AK, McNamara DG. Am J Cardiol. 1970 Jun;25(6):639-41. No abstract available. Abstract Clinical and cytogenetic studies of a case of 45,X/46,XY Turner syndrome. Ye LZ, Liu CY, Cheng ZY, Gao CS, Luo HY, Gu CX, Ge QS, Lu PJ. Chin Med J (Engl).

40. About Xy-Turners The result can be a form of turner's syndrome called mixed gonadal dysgenesis. Mostof the children with xy/xo mosaicism have normal male genitalia; A few have http://www.xyxo.org/xyxo_files/faq.htm

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