Protocol Number: 00-CH-0219

Title:

Turner Syndrome: Genotype and Phenotype

Number:

00-CH-0219

Summary:

This study will examine the clinical and genetic factors related to Turner syndrome, a disorder of the female sex chromosomes. Humans have 23 pairs of chromosomes-thin strands of DNA-in the nucleus of every cell, which contain genes that determine our hereditary makeup. One pair of chromosomes is the sex chromosomes, designated X and Y. Females normally have two X chromosomes; however, patients with Turner syndrome have only a single X chromosome or one normal and one defective X chromosome. This abnormality can cause medical problems such as a webbed neck, low-set ears, and heart or kidney defects. It can also cause short stature, lack of sexual development and improperly functioning ovaries. Adult women with Turner syndrome have an increased risk of high blood pressure, diabetes mellitus and osteoporosis. This study will try to identify the genes responsible for the specific medical problems associated with the disorder.

Females 7 years of age and older with X chromosome defects may be eligible for this 3- to 5- day inpatient study at the National Institutes of Health Clinical Center in Bethesda, Maryland. Participants will have a comprehensive physical examination, including (with the patient's permission) photographs of abnormal physical findings to document characteristics of Turner syndrome. Patients will have their body measurements (height, weight, hip and waist) taken and blood drawn for clinical and research purposes. Patients will be given a "metabolic diet," with meals designed to contain specific amounts of salt and carbohydrate to allow accurate measurements of blood pressure and glucose (sugar) metabolism.

Participants will have a 24-hour urine collection for kidney evaluation, electrocardiogram, urinalysis and urine pregnancy test, wrist X-rays, magnetic resonance imaging (MRI) of the heart, computerized tomography (CT) scan of the lower spine to evaluate bone strength, blood pressure measurements, ear and hearing examination, kidney ultrasound, vaginal ultrasound to evaluate the ovaries, heel ultrasound to measure bone thickness. They will also have an oral glucose tolerance test, DEXA scan (a type of X-ray study to measure body fat, muscle and bone thickness), memory and visual-perceptual testing, and a psychosocial evaluation to assess the effects of the disorder on quality of life and social functioning. These are state of the art diagnostic tests which may uncover unsuspected anatomic problems such as abnormalities of the aorta or aortic valve which have serious clinical implications and would indicate the need for close medical follow-up, as well as uncover potential risk for development of diabetes or osteoporosis in the future, which would also indicate the need for changes in lifestyle or medical management.

Some patients may be asked to undergo a skin biopsy (removal of a small sample of skin tissue) to obtain more information about genetic make-up of cells. Parents of patients may be contacted (with the patient's permission) to provide a blood or other tissue sample for genetic study to help understand how and why certain traits of Turner syndrome are expressed. All patients will be invited to participate in a genetic counseling session to discuss their concerns and difficulties related to living with Turner syndrome.

Sponsoring Institute:

National Institute of Child Health and Human Development (NICHD)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA - for TS Subjects:

Phenotypic females greater than or equal to 10 years of age

Evidence of X-chromosomal abnormality

Those with a karyotype of 45X/46XX must have at least 80% 45X lymphocytes.

EXCLUSION CRITERIA - for TS Subjects:

Co-existing autosomal defects

Pregnancy

INCLUSION CRITERIA - for the Parents of TS Subjects (for DNA only):

Biological parent of a TS subject

Willingness to participate

EXCLUSION CRITERIA - for the Parents of TS Subjects (for DNA only):

None

Special Instructions:

Currently Not Provided

Keywords:

Genes

X-Chromosome

Osteoporosis

Ovarian Failure

Imprinting

Recruitment Keyword(s):

Turner's

Turner

TS

Condition(s):

Turner's Syndrome

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Institute of Child Health and Human Development

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

Turner syndrome and haploinsufficiency

Turner syndrome

Turner syndrome: a cytogenetic and molecular study

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National Institutes of Health Clinical Center Bethesda, Maryland 20892. Last update: 09/16/2008