Ignite Creation Date:
2024-05-05 @ 11:22 AM
Last Modification Date:
2024-10-26 @ 9:05 AM
Study NCT ID:
NCT00006334
Status:
COMPLETED
Last Update Posted:
2017-10-06
First Post:
2000-10-04
Brief Title:
Turner Syndrome Genotype and Phenotype
Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Turner Syndrome Genotype and Phenotype
Status:
COMPLETED
Status Verified Date:
2014-07-08
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
This study examines the clinical and genetic factors related to Turner syndrome a disorder of the sex chromosomes Humans usually 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 usually have two X chromosomes however patients with Turner syndrome have only a single X chromosome or one normal and one defective X or Y chromosome This abnormality can cause medical problems such as short stature premature ovarian failure and heart or kidney defects Individuals with Turner syndrome have an increased risk of thyroid disorders high blood pressure diabetes mellitus abnormal liver function hearing loss and osteoporosis This study will try to identify the genes responsible for the specific medical problems associated with the disorder
Females 10 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 physical examination body measurements height weight hip and waist and blood drawn for clinical and research purposes
Participants will have a comprehensive cardiovascular evaluation including an electrocardiogram ECG 24 hour blood pressure monitoring magnetic resonance imaging MRI of the heart and aorta ultrasound imaging of the heart cardiac echo and expert consultation with the NIH Cardiology Service Women 35 years of age and older may have a computerized tomography CT scan of the coronary arteries to investigate possible blockage of the heart blood supply
Risk for diabetes is investigated by studies of the body fat content and an oral glucose tolerance test The risk for coronary artery disease is assessed by measurement of cholesterol and other known risk factors in the blood Thyroid function and presence of antibodies to the thyroid gland are also evaluated by blood tests
Liver function is tested by measurement of products of liver metabolism in the blood and by a liver ultrasound Ovary function is investigated by blood tests of estrogen and FSH levels and pelvic untrasound which visualizes the uterus
Bone structure and strength are evaluated by routine X-rays of the wrists and spine and DEXA scan a type of X-ray study that measures body fat muscle and bone thickness Adults will also have bone density of the spine and abdominal fat content measured by CT which is more accurate than DEXA Vitamin D levels are measured in blood testsThese 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 Study participants are invited to return for re-evaluation at 1-3 year intervals A major goal of follow-up visits is to determine whether there is any enlargement of aortic diameter or impairment of cardiac function over time
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 patients permission to provide a blood or saliva sample for genetic study to help understand how and why certain traits of Turner syndrome are expressed
Females 10 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 physical examination body measurements height weight hip and waist and blood drawn for clinical and research purposes
Participants will have a comprehensive cardiovascular evaluation including an electrocardiogram ECG 24 hour blood pressure monitoring magnetic resonance imaging MRI of the heart and aorta ultrasound imaging of the heart cardiac echo and expert consultation with the NIH Cardiology Service Women 35 years of age and older may have a computerized tomography CT scan of the coronary arteries to investigate possible blockage of the heart blood supply
Risk for diabetes is investigated by studies of the body fat content and an oral glucose tolerance test The risk for coronary artery disease is assessed by measurement of cholesterol and other known risk factors in the blood Thyroid function and presence of antibodies to the thyroid gland are also evaluated by blood tests
Liver function is tested by measurement of products of liver metabolism in the blood and by a liver ultrasound Ovary function is investigated by blood tests of estrogen and FSH levels and pelvic untrasound which visualizes the uterus
Bone structure and strength are evaluated by routine X-rays of the wrists and spine and DEXA scan a type of X-ray study that measures body fat muscle and bone thickness Adults will also have bone density of the spine and abdominal fat content measured by CT which is more accurate than DEXA Vitamin D levels are measured in blood testsThese 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 Study participants are invited to return for re-evaluation at 1-3 year intervals A major goal of follow-up visits is to determine whether there is any enlargement of aortic diameter or impairment of cardiac function over time
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 patients permission to provide a blood or saliva sample for genetic study to help understand how and why certain traits of Turner syndrome are expressed
Detailed Description:
Turner syndrome TS is a sporadic disorder affecting 12500 live female births It is caused by the absence of all or significant parts of one sex-chromosome Major developmental consequences include severe short stature ovarian failure and distinctive cognitive and behavioral traits with renal and cardiovascular defects affecting a minority Adults with TS have excessive rates of osteoporosis hypertension and diabetes mellitus and experience morbidity and mortality several-fold higher than the general population Many of the problems of TS result from haplo-insufficiency for X-chromosome encoded genes most of which remain unknown Previous studies attempting to correlate genotype with phenotype in TS have been limited due to small numbers of subjects limited genetic methodology and incomplete phenotypic characterization This study aims to correlate TS phenotypes and genotypes using advanced clinical and genetic diagnostic methodologies with the goal of identifying X-chromosome genes and epigenetic mechanisms causing the different features of TS For TS subjects with a 45X genotype the parental origin of the single normal X-chromosome will be traced to identify genomically imprinted features of the disorder X chromosomal structural defects will be analyzed using high-resolution physical mapping in relation to emerging sequence data from the Human Genome Project The elucidation of genetic mechanisms in TS will help improve the diagnosis and treatment of girls and women with this disorder and will further our understanding of gene dosage effects in general
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 00-CH-0219 | None | None | None |