$Unique_ID{BRK04297} $Pretitle{} $Title{Turner Syndrome} $Subject{Turner Syndrome Bonnevie-Ulrich syndrome Ovarian Dwarfism Ovary Dysgenesis Ovary Aplasia Genital Dwarfism Gonadal Dysgenesis (XO) Monosomy X Morgagni-Turner-Albright Syndrome Pterygolymphangiectasia Schereshevkii-Turner Syndrome Turner-Varny Syndrome XO syndrome Noonan Syndrome (in males) Pseudo Turner Syndrome (in males) } $Volume{} $Log{} Copyright (C) 1986, 1987, 1988, 1989, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 112: Turner Syndrome ** IMPORTANT ** It is possible that the main title of the article (Turner Syndrome) is not the name you expected. Please check the SYNONYM listing to find the synonyms, disorder subdivisions, and related disorders covered by this article. Synonyms Bonnevie-Ulrich syndrome Ovarian Dwarfism Ovary Dysgenesis Ovary Aplasia Genital Dwarfism Gonadal Dysgenesis (XO) Monosomy X Morgagni-Turner-Albright Syndrome Pterygolymphangiectasia Schereshevkii-Turner Syndrome Turner-Varny Syndrome XO syndrome Information on the following disorders can be found in the Related Disorders section of this report: Noonan Syndrome (in males) Pseudo Turner Syndrome (in males) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Turner syndrome is a genetic disorder affecting females which is characterized by lack of sexual development, small stature, possible mental retardation, a webbed neck, heart defects, and various other congenital abnormalities. Individuals have an XO karyotype, i.e., they have neither the second X chromosome that characterizes females nor the Y chromosome of males. Despite the unusual genetic karyotype, people with Turner Syndrome are females. Symptoms Individuals with Turner syndrome have female characteristics, but they do not develop secondary sexual characteristics because they have immature or "streak" ovaries and cannot produce estrogen (a female hormone). No puberty occurs, and sexual traits such as breasts or pubic and axillary hair fail to develop. Growth is slowed and the individual remains unusually short, often under 5 feet tall at adulthood. Intelligence is only rarely impaired. There may be behavioral difficulties, but it is not known whether these are consequences of living with this disorder or neurological manifestations. Congenital abnormalities of the skeleton, heart, and urinary tract can occur. The neck is webbed and the chest may be broad or protruding. The jaw may have an unusual shape, and the palate may be arched. Typical heart defects may include coarctation of the aorta and other anomalies of the left side of the heart. Urinary tract abnormalities may include a horseshoe shaped kidney and double ureters. Cells of individuals with Turner syndrome usually have only 45 chromosomes (rather than the normal 46), lacking a sex chromosome as described above. Occasionally, the defect is found only in one cell line (mosaicism), or the chromosome is present but defective. Causes Turner Syndrome is a genetic disorder caused by an absence or defect of the sex chromosome. Karyotype (chromosomal constitution of the nucleus of a cell) is XO in 80% of the cases, lacking one of the sex chromosomes. In 20% of the cases, sex chromatin is positive for various chromosomal abnormalities such as XX (one chromosome is abnormal) or XO (one chromosome is absent), or other abnormal chromosome combinations. Affected Population Turner Syndrome affects only females. In the United States, the number of persons with this disorder is approximately 45,000. Related Disorders Noonan Syndrome is a genetic disorder that can affect both males and females. The disorder is characterized by a lack of sexual development, short stature, mental retardation, a webbed neck, skeletal and/or heart defects, and various other abnormalities. Persons with Noonan Syndrome usually have normal chromosomes (karyotype is normal), while their physical appearance (phenotype) is different from their peers. (For more information on this disorder, choose, "Noonan" as your search term in the Rare Disease Database.) Therapies: Standard There is no cure for Turner Syndrome, but certain measures can allow a more normal life in affected persons. To increase stature (i.e., for normal linear growth and maturation of the bones), estradiol therapy started early in life has been found useful. Genetically engineered growth hormone has proven helpful in many cases. At puberty, replacement therapy with estrogen may begin. This allows almost normal development of breasts, labia, vagina, uterus and fallopian tubes, although patients remain unable to conceive children. Patients who are mosaics (i.e., only some of whose cells have abnormal sex chromosomes) appear to be susceptible to gonadal tumors. Such patients, who are likely to have evidence of virilization, may have "streak gonads" which are undeveloped gonads in the ligaments of the abdominal cavity. These should be removed. Therapies: Investigational The National Institutes of Health requests the cooperation of physicians in referring patients with Turner Syndrome, age 4 to 12 years. Patients will be offered enrollment in a long-term treatment protocol to assess the effect of low-dose estrogen treatment and growth hormone treatment on adult height. Low-dose estrogen is intended to help stimulate gradual development of secondary sexual characteristics without compromising growth potential Referring physicians will receive a complete summary of all evaluations, and patients will continue to be followed in conjunction with their referring physicians. Please write or telephone: Dr. Gordon B. Cutler Jr. National Institutes of Health 9000 Rockville Pike Bldg. 10, Rm. 10N260 Bethesda, MD 20892 (301) 496-4686 or Dr. Judith Levine Ross Hahnemann University Mail Stop 402 Broad & Vine Streets Philadelphia, PA 19102 (215) 448-7710 Ethinyl Estradiol product EE which is manufactured by Gynex increases secondary sexual characteristics in Turner's patients without causing bone growth problems. Further studies are necessary to determine the long-term safety and effectiveness of this product. Oxandrolone (Oxandrin) is an experimental drug being tested on girls with Turner Syndrome to increase their growth. This drug has several advantages over human growth hormone (hGH) because (1) Oxandrin is an oral drug whereas hGH is an injection (2) hGH costs $10,000 to $30,000 per year whereas Oxadrin is expected to cost less than $2,000 per year. Oxandrin is available from Gynex Pharmaceuticals under a "Treatment IND" which is special permission from the FDA to distribute an investigational drug to a large number of people who are not in a clinical trial. This disease entry is based upon medical information available through February 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Turner Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Turner's Syndrome Support Group of New England 170 Maple Street Malden, MA 02148 Turner's Syndrome Society of the United States 3539 Tonkawood Road Minnetonka, MN 55345 (612) 475-9944 Turner Syndrome Society Administrative Studies Bldg. 006 4700 Keel Street York University Downsview, Ontario, Canada M3J 1P3 .BR; (416) 736-5023 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 167-70, 1392. SMITH'S RECOGNIZABLE PATTERS OF HUMAN MALFORMATION, 4th ed., Kenneth L. Jones, M.D., W.B. Saunders, Co. 1988. Pp. 75-9.