Medical Management Considerations
Resources for Families
Advisory Committee
Publication Information

Learning Points

  • Confirm that Turner Syndrome is a chromosomal condition exclusive to females and characterized by short stature and lack of sexual development at puberty.
  • Delineate the common characteristics of Turner Syndrome; e.g.,
    • Slight intrauterine growth retardation
    • Relatively normal growth velocity for the first few years of life
    • Progressive deceleration of growth later in childhood
    • Lack of a pubertal growth spurt
  • Recite the most common reason parents of a girl with undetected Turner syndrome contact a doctor (lack of height).
  • Discuss why it is important for Turner Syndrome to be diagnosed at birth or in the first several years of life (so the physician and family can consider growth hormone treatment beginning at approximately 6 or 7 years of age).
  • Restate the occurrence of Turner Syndrome (1:2,500 or 1:2,000).
  • List five physical characteristics of Turner Syndrome; e.g.,
    • Short stature (100%)
    • Ovarian failure (90%)
    • Lymphedema [puffy hands and feet] (70%)
    • Broad chest (75%)
    • Webbing of the neck (65%)
  • List four ongoing medical management considerations; e.g.,
    • Checking blood pressure and peripheral pulses during each physical examination
    • Checking for serous otitis and otitis media; hearing loss may be conductive or sensorineural
    • Monitoring for hypothyroidis
    • Evaluating renal status on an ongoing basis
  • Refer families to appropriate resources on Turner Syndrome.

back to top

Description and Causes

Turner syndrome is a chromosomal condition exclusive to females and characterized by short stature and lack of sexual development at puberty. Slight intrauterine growth retardation, relatively normal growth velocity for the first few years of life, a progressive deceleration of growth later in childhood, and the lack of a pubertal growth spurt are common characteristics of Turner syndrome.

Occasionally referred to as gonadal dysgenesis, the condition first may be recognized in a newborn baby, a child, an adolescent, or, rarely, an adult.

Turner syndrome is caused by the complete or partial absence of one of the two X chromosomes normally found in women. Despite many efforts, no real causes have been identified for this condition. Turner syndrome appears to be a random event which is not associated with environmental or other factors generally associated with genetic problems. No connection exists between Turner syndrome and mental retardation.


Turner syndrome is not always accompanied by distinctive features and most often is not diagnosed in infancy. Approximately 30% of all newborns with Turner syndrome have edema of the back of the hands and feet. Some also show relatively pronounced skin folds in the neck. In some cases, there is a broad neck or more permanent skin folds, so-called “webbing,” on both sides of the neck. Apart from these conditions, one cannot determine if a newborn girl has Turner’s syndrome.

Later in childhood, Turner syndrome may be suspected primarily because of short stature. Lack of height is the most common reason for parents of a girl with undetected Turner syndrome to contact a doctor. An adolescent with absent breast development by 13 years or increased follicle stimulating hormone associated with primary or secondary amenorrhea should have karyotyping performed.  Other prominent presenting features in teenage years include delayed puberty and delayed menarche, and in adult women, anovulation and infertility.

Karyotype can confirm the diagnosis. A wide range of karyotypic abnormalities exists in Turner syndrome. When conventional karyotyping is done from lymphocyte cultures, about 50% of patients show a 45,XO chromosome constitution. Other karyotypes found with Turner syndrome are mosaicism of 45,XO with other cell lines such as 46,XX, 46,XY, or 47,XXX.

Diagnosis at birth or in the first several (7-8) years of life is important so the physician and family can consider growth hormone treatment beginning at approximately 6 or 7 years of age.


  • 1:2,500 or 1:2,000
  • No known differences in frequency exist based upon race, location or socio-economic factors
  • Estimated to affect approximately 3% of all female fetuses; however, only 1% of these embryos survive to term

Characteristic Features

  • Short stature (100%)
  • Ovarian failure (90%)
  • Lymphedema [puffy hands and feet] (70%)
  • Broad chest (75%)
  • Webbing of the neck (65%)
  • Hearing impairment (70%)
  • Renal abnormalities (60%)
  • Cardiac anomalies (50%)
  • Cubitus valgusi [arms turned out slightly at elbows] (75%)
  • Narrow, high-arched palate (82%)
  • Low posterior hairline (80%)
  • Prominent, anomalous ears (70%)
  • Inner canthal folds (70%)
  • Nail hypoplasia [soft upturned nails] (75%)
  • Short fourth metacarpal [short 4th fingers] (65%)
  • Excess pigmented nevi [small brown moles] (70%)
  • Small mandible (70%)
  • Normal cognitive development

Common Associations

  • Hearing impairment
  • Horseshoe kidney, double or cleft renal pelvis
  • Heart problems (most frequent cardiac aberration is bicuspid aortic valve – 30%, coarctation of the aorta – 10%), aortic dissection later in adult life from underlying aortic root dilatation (8-28%)
  • Thyroid problems
  • Delayed emotional maturity
  • Delayed puberty
  • Weight control problems/hyperlipidemia
  • Glucose intolerance
  • Anovulation and infertility
  • Osteoporosis
  • Hypertension

back to top

Note: These considerations are in addition to the normal medical care provided to an individual without Turner syndrome. All recommendations can be addressed through clinical examination by the primary care provider, unless otherwise noted.


  • Check blood pressure and peripheral pulses during each physical examination (idiopathic hypertension is found in Turner syndrome; however, a careful search for cardiac or renal causes should be made)
  • Check for serous otitis and otitis media; hearing loss may be conductive or sensorineural
  • Monitor for hypothyroidism
  • Perform regular opthalmalogic examinations
  • Evaluate renal status on an ongoing basis
  • Annually monitor for diabetes mellitus
  • Monitor for glucose intolerance
  • Monitor growth parameters on a regular basis
  • Discuss diet and exercise for weight control
  • Review the psychological support available to the child and family to optimize the child’s psychosocial development
  • Encourage family support by referral to individuals with Turner syndrome, parents of children with Turner syndrome, or a Turner syndrome support group

Visit the American Academy of Pediatrics Health Supervision Guidelines for Children with Turner Syndrome

Infancy or Early Childhood (Birth to 5 years)

  • Discuss possible feeding problems (regurgitation and vomiting) due to inefficient sucking and swallowing reflexes common in approximately half of infants with Turner syndrome
  • Inform parents that feeding problems usually disappear during the infant’s second year
  • Inform the family that lymphedema may persist for months or may recur
  • Inform parents that any relatively pronounced skin folds in the neck generally disappear quickly
  • Order an echocardiogram to diagnose cardiac aberrations or heart valve aberrations, with special attention to the possibility of left-sided cardiac anomalies and stenosis of the aorta
  • Evaluate the child’s cardiac status annually, monitoring the aortic root for dilation which places the child at substantial risk for aortic dissection.
  • Obtain a renal sonogram to identify any renal anomalies (present in 20%) which may predispose the child to urinary tract infections, hydronephrosis and hypertention
  • Ultrasonography on all infants under 2 months who develop a UTI, and all children who require hospitalization for a UTI
  • Perform an opthalmologic examination, monitoring for nonalternating strabismus
  • Monitor the child’s growth
  • Institute aggressive treatment for any inflammations of the middle ear
  • Annually or bi-annually test for thyroid function due to increased frequency of hypothyroidism
  • Monitor hearing
  • Examine the child’s hips for dysplasia during early infancy
  • Discuss how and what to tell other family members and friends
  • Follow the child’s learning progress, with special attention to spatial perception problems
  • Indicate that infertility is almost always present, although assisted reproduction techniques may enable infertile couples to have children
  • Discuss the current status of endocrine therapy for growth and for the development of secondary sex characteristics
  • If the child’s features are significantly dysmorphic and a potential barrier to social acceptance, consider plastic surgery to improve appearance before the child enters school
  • Assist parents to obtain support services if indicated

Late Childhood (5 to 13 years)

  • Refer to a pediatric endocrinologist for consideration of:
    • Hormonal growth-enhancing therapy, from approximate age of 6 or 7
    • Oxandrolone treatment from the age of 9 to 12 years
    • Small doses of estrogen from age 12 to 13 years, after child has received at least 2 years of growth hormone treatment
  • When appropriate, discuss the diagnosis and treatment of Turner syndrome, including short stature, with the child
  • Monitor for potential academic and social problems, particularly spatial perceptual abilities, attention deficits, hyperactivity and difficulty in developing social skills; refer for evaluation and intervention as appropriate
  • Attend immediately to middle ear infections (tendency to reduced hearing appears to increase from 20% at age 8 and older to 50% or more at age 50)
  • Monitor for urinary tract infections
  • Check dentition for malocclusion
  • Obtain annual echocardiograms if a cardiac anomaly is present; otherwise, check every two years
  • Continue annual or bi-annual testing for thyroid function
  • Check annually for scoliosis (lordosis and kyphosis are more frequent with Turner syndrome)
  • Monitor for hearing loss

Adolescence and Adulthood (13 years and over)

  • Check for lack of sexual development at puberty
  • Monitor luteinizing hormone and follicle stimulating hormone levels, which may be normal in childhood but are significantly elevated by ages 10 to 11
  • Evaluate for secondary sexual development
  • Referral to an endocrinologist for medical treatment of sex hormone replacement
  • If lymphedema is exacerbated by estrogen therapy, suggest support hose and diuretics
  • Monitor social adaptation for social immaturity
  • Provide psychosexual counseling
  • Present information on reproductive options for having children
  • For the rare patient with sufficient ovarian function to ovulate, refer for genetic counseling and prenatal diagnosis (pregnancies in women with Turner syndrome are at increased risk for fetal chromosome abnormalities and miscarriages)
  • Monitor for hearing loss
  • Examine for pigmented nevi which tend to increase in adolescence (they have primarily cosmetic significance and rarely develop into melanoma)
  • Check hearing regularly into adulthood
  • Check annually for scoliosis
  • Continue to monitor cardiac health: consider reimaging females with normal echocardiograms every 3-5 years and those with abnormal echocardiograms annually
  • Continue to monitor thyroid function annually or bi-annually
  • Refer child and parents for counseling and supportive therapy if indicated

back to top

Peer-reviewed Journal Articles/Academies

American Academy of Pediatrics, Committee on Genetics. (1995). Health Supervision for Children with Turner Syndrome. Pediatrics, 96(6), 1166-1173.

Conway, G.S. (2002). The Impact and Management of Turner’s Syndrome in Adult Life [Review]. Best Practice and Research, Clinical Endocrinology and Metabolism, 16(2), 243-261.

Mazzanti, L. et al. (2005). Turner Syndrome, Insulin Sensitivity and Growth Hormone Treatment. Hormone Research, 64(3), 51-57.

Rovet, J. (2004). Turner Syndrome: Genetic and Hormonal Factors Contributing to a Specific Learning Disability Profile. Learning Disabilities Research & Practice, 19(3) 133-145.

Ross, J.L. (2005). Effects of Growth Hormone on Cognitive Function, Hormone Research 64(3), 89-94.

Sherman, C. (2001). Look for vesicoureteral reflux in selected infants, children with UTIs. Pediatric News, 34, 52.

Sutton, E.J. et al. (2005). Turner Syndrome: Four Challenges Across the Lifespan. American Journal of Medical Genetics, 139A, 57-66.

Tillmann, F.G. et al. (2002). Short-term Growth in Children with Growth Disorders. Annals of Human Biology, 29(1), 89-104.

Special Interest Groups/Other Publications

Albertsson-Wikland, K., Ranke, M. B., eds. (1995). Turner syndrome in a life span perspective: Research and clinical aspects: Proceedings of the 4th international symposium on Turner syndrome. New York: Elsevier.

Kirkland, R. Turner syndrome. Booklet available from Texas Children’s Hospital, Office of Educational Resources, PO Box 20260, Houston, Texas 77225, (713) 770-2040, fax (713) 770-5031.

Kragh-Olsen, B., Gøtzsche, C. O., Nielsen, J., & Kristensen, B. Ø. (2006). Cardiovascular malformations in Turner syndrome. Booklet available online from The Turner Center.

Nielsen, J. (2006). Approach to Prenatal Counseling when Turner Syndrome is the Diagnosis. Booklet available on-line from The Turner Center Retrieved on February 28, 2006.

Rieser, P. A., Underwood, L. E. (2006). Turner syndrome: A guide for Families. Booklet Available from the Turner Syndrome Society of the United States, 14450 T. C. Jester, Suite 260, Houston, TX 77014, (800) 365-9944, (832) 249-9988, fax (832) 249-9987. Retrieved on February 28, 2006.

back to top

Turner’s Syndrome Society of the United States
14450 T. C. Jester, Suite 260
Houston, Texas 77014
(800) 365-9944
(832) 249-9988
(832) 249-9987 fax

The Turner Syndrome Society
7777 Keele Street, Floor 2
Concord, Ontario
Canada L4K XYF

Human Growth Foundation
7777 Leesburg Pike, Suite 202S
Falls Church, VA 22043

The Major Aspects of Growth in Children Foundation (MAGIC)
1327 North Harlem Avenue
Oak Park, IL 60302

(Among other resources, MAGIC offers a Pen Pal list and a children’s newsletter edited by young members of MAGIC.)

back to top

Theodore A. Kastner, M.D., M.S.
Mary Ann Lewis, Dr.P.H., R.N., F.A.A.N.
Patrick J. Maher, M.D.
Felice Weber Parisi, M.D., M.P.H.

back to top

This document does not provide advice regarding medical diagnosis or treatment for any individual case, and any opinions or statements contained in this document are not intended to serve as a standard of medical care. Physicians are encouraged to view the considerations presented in this document in light of evolving scientific information. This document is not intended for use by the layperson. Reproduction of this document may be done with proper credit given to California Department of Developmental Services.