Chapter 3 Index

A. General

B. Skin

C. Orthopedics

D. Genitourinary

E. Endocrine
--15-Year Old Boy with Short Stature, Delayed Puberty

Turner’s Syndrome (XO Syndrome)

Introduction: Even though a common disorder (1:2500 live births), the diagnosis of Turner’s syndrome is often missed: only 15% are diagnosed in infancy and an additional 8% by 4 years of age.  Mean age of dx: 8 years. Most pregnancies with 45 XO abort spontaneously resulting in only those with the mildest signs of TX being live-born.

Ages at diagnosis:

1. Newborn: Small stature, Mean IQ about 90 – early development usually normal; tendency for low self-esteem and depression in young adults; ovarian dysgenesis (90%); congenital lymphedema (80%); broad chest with widely spaced nipples (80%); web neck or low hairline (50-80%); anomalous auricles (80%); narrow palate and small mandible (75%); elbow abnormalities (70%); bone dysplasia (50%); renal abnormalities (60%); bicuspid aortic valve (30%); coarctation of the aorta (10%); hearing impairment (50%). (From Smith’s text:5th edition)
2. Young child: When diagnosed, growth is more than 3 standard deviations from the mean.  Can be noted when school performance has suffered, or from a workup of short stature.
3. Adolescent: Combination of growth failure and pubertal delay.  Ultimate height: 50-60 inches (mean 55 inches).
4. Adult: Workup from amenorrhea or even for infertility.

Diagnosis: Barr body examination is not sufficient.  Must obtain karyotypes.  Many authors state that karyotyping (despite expense) should be done in the workup of all girls with short stature, and particularly those with documented growth deceleration, and a history of lymphedema at birth. (J Peds 2000; 137:443).

Blood work: plasma levels of gonadotropins, particularly FSH, are elevated during infancy, but they then decrease until 7-8 years of age and then start to rise again.

Once diagnosis is established, should obtain ultrasounds of heart, kidneys, ovaries.  If mosaic there is an increased risk of gonadoblastomas: these children will require an exploratory operation in childhood.

Growth pattern of Patients With Turner’s Syndrome: IUGR (length on average is 2.6 cm less than expected), near-normal growth for the first 2-3 years of life (but up to 8 cm loss of growth by 3 years of age); progressive growth deceleration from age 3-13 years; failure to achieve a pubertal growth spurt (but associated with delayed bone age).

Treatment of Patients With Turner’s Syndrome:

• Treatment with GH if started early enough can help girls achieve 86-88% of adult predicted height. (mean 66 inches) 
• Estrogens: no complete agreement about when to start, but will need these.
• Anabolic steroids: controversial; Oxandrolone can increase height 3-4 cm more.
• Plastic surgery may be chosen for web neck, ears, but increased keloid formation. 
• Psychosocial support: an integral component of treatment.  Turner Syndrome Society can help in this effort.

Written 10/00

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Department of Pediatrics  |  Medical College of Georgia
Please email comments, suggestions or questions to:
John T.  Benjamin M.D.,  jbenj@mcg.edu

February 27, 2004