The development of the brain in females is a result of a combination of factors. During
puberty estrogen plays a role in influencing brain development. Cultural and environmental
factors also play a role in the development of the brain.
Female patients with Turner syndrome lack the ability to produce estrogen due to undeveloped
ovaries. Therefore, Turner syndrome is the perfect condition to study how estrogen (or the
lack of estrogen) influences a person's behavior and thinking.
This study will compare cognitive differences (visual motor skills, visual-spatial,
psychosocial behavior, and visual memory) of patients with Turner syndrome to normal patient
controls. Researchers will use the Weschler Intelligence Scale for Children-Revised
(WISC-R) along with other tests and scales to measure different aspects of the patient's
cognitive ability. In addition the study will review patients with Turner syndrome who
previously received estrogen replacement as infants and children in a related research
Researchers hope to demonstrate that estrogen replacement will improve cognition and
behavior in girls with Turner syndrome.
Estrogen influences brain development in females at puberty. Environmental and cultural
factors interact with the biological effects of estrogen on the brain and consequently on
cognition and behavior. Turner syndrome females lack endogenous estrogen as a result of
dysgenetic ovaries. Turner syndrome therefore represents a unique, estrogen-deficient model
in which to study the biological effects of estrogen on cognition and behavior. The
specific aims of this project are to: 1) document further, the cognitive differences
between girls with Turner syndrome at ages 5 to adult (less than or equal to age 50) versus
age-matched, female controls. 2) to examine the differential effects of continuous estrogen
replacement in infancy and in early childhood on cognitive and social function in a unique,
previously approved, randomized, double-blind, placebo-controlled, treatment trial
(87-CH-0152). Specifically, we hypothesize that estrogen replacement in early childhood
will reduce the cognitive deficits of girls with Turner syndrome. In addition, we
hypothesize that the degree of socialization ability in these girls will correlate with
social-behavioral and social recognition ability. Finally, we hypothesize that earlier
(infancy to 8 years) and longer estrogen replacement will result in less impairment of
visual-motor ability, visual-spatial ability, socialization ability, and affective
competence compared to later (9 to 12 years) estrogen replacement in girls with Turner
Children with Turner syndrome and controls will be tested in the Outpatient Departments at
the two approved sites of protocol 87-CH-0152; the NIH and Thomas Jefferson University.
Patients will include girls and women ages 5-50 yr with the diagnosis of Turner syndrome
based on absence of all or part of one of the X chromosomes.
Control subjects must be within +/- 2SD for height and weight and have normal intelligence
and educational achievement.
Biological parents (both male and female) of TS subjects may be included in this study,
but only to have blood drawn for genetic testing in order to determine the origin of the
X-chromosome of their daughters.
Those with severe physical or neurocognitive impairment, preventing accurate completion of
the cognitive tasks, will be excluded.
Normal subjects who have qualified for or participated in gifted and talented or remedial