Diagnosis of Turner Syndrome
Diagnostic Test list for Turner Syndrome:
The list of medical tests
mentioned in various sources as
used in the diagnosis of Turner Syndrome
includes:
- Ultrasound - to look for ovaries
- Genetic chromosome tests
Turner Syndrome Diagnosis: Book Excerpts
Diagnostic Tests for Turner Syndrome: Online Medical Books
16 MEDICAL BOOKS ONLINE!
Review excerpts from medical books online, free, without registration,
for more information about diagnostis of Turner Syndrome.
DWARFISM:
Ask the following questions:
(Algorithmic Diagnosis of Symptoms and Signs)
- Is there disproportion of the trunk and extremities? These findings would suggest achondrodysplasia.
- Is there obesity? The finding of obesity would suggest Fröhlich's syndrome, Laurence-Moon-Bardet-Biedl syndrome, and Brissaud's infantilism.
- Is there appearance of wasting and/or malnutrition? The presence of wasting or other signs of malnutrition suggests chronic nephritis, congenital heart disease, progeria, malnutrition, and rickets.
- Is there an unusual appearance to the skull or face? These findings suggest mongolism, cretinism, microcephaly, hydrocephalus, and cleidocranial dysostosis, among other conditions.
- Are there abnormal secondary sex characteristics? The development of secondary sex characteristics is impaired in Turner's syndrome and pituitary dwarfism.
DIAGNOSTIC WORKUP
Routine studies should include a CBC, sedimentation rate, urinalysis, chemistry panel, thyroid profile, VDRL test, quantitative stool fat, a sweat test, and x-rays of the skull and long bones.
If Turner's syndrome is suspected, a buccal smear for sex chromogen may be done. If pituitary dwarfism is suspected, a CT scan of the skull may be helpful. Additional endocrine tests include a serum growth hormone level before and after exercise, a resting somatomedin-C level, and an overnight dexamethasone suppression test. In patients suspected of having rickets and hypoparathyroidism, 24-hr urine calciums may be done. However, it is best to consult a pediatrician, endocrinologist, or orthopedic surgeon before proceeding with expensive diagnostic tests.
» READ BOOK EXCERPT ONLINE »
Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
DWARFISM:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
The workup of dwarfism should probably be done by an endocrinologist. Many of the causes are genetic and untreatable, but it would be a shame to miss cretinism, hypopituitarism, or Turner syndrome. All of these have associated findings that should help differentiate them, but hypopituitarism may be very subtle. Cystic fibrosis can be diagnosed by a sweat test. Down syndrome, Turner syndrome, and certain other genetic causes can be determined by a chromosomal analysis.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
Fragile X syndrome:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Confirming diagnosis
Diagnosis of fragile X syndrome requires identification of clinical symptoms and a positive genetic test. DNA analysis of blood or buccal samples is used to detect the size of the CGG repeat and the methylation status of FMR1.
A specific genetic test (polymerase chain reaction) can also be performed to diagnose this disease. This test looks for an expanded mutation (called a triplet repeat) in the FRAXA gene.
Before identification of the FMR1 mutation, a special cytogenetic (chromosome) blood test was used to microscopically detect the fragile site on the long arm of the affected X chromosome. It's now common knowledge that a full FMR1 mutation doesn't always result in a cytogenetically detectable fragile site. Therefore, chromosome analysis alone can provide false-negative results. Chromosome analysis still has utility together with FMR1 mutation analysis when performing a genetic evaluation on a male with mental retardation of unknown etiology.
In addition to diagnosing fragile X syndrome, genetic testing can determine whether the mother of a diagnosed individual is a carrier of the FMR1 premutation or has a full mutation. This information can be used for preconceptional genetic counseling by a trained professional and prenatal testing if the woman so chooses. FMR1 mutation analysis can also be subsequently performed on at-risk family members. It should be noted, however, that communication of genetic test results to at-risk family members constitutes a breech of patient confidentiality and privacy unless prior written permission to communicate results has been obtained from the previously tested patients.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
X-linked infantile hypogammaglobulinemia:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Diagnosis of X-linked hypogammaglobulinemia can be especially difficult because recurrent infections are common even in normal infants (many of whom don’t start producing their own antibodies until age 18 to 20 months). Immunoelectrophoresis and quantitative immunoglobulins (nephelometry) confirm decreased levels, or a total absence, of IgM, IgA, and IgG in the serum. IgG is usually less than 200 mg/dl, and IgA and IgM are almost unmeasurable. However, diagnosis by this method usually isn’t possible until the infant is 9 months old. Antigenic stimulation confirms an inability to produce specific antibodies, although cellular immunity remains intact.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
DWARFISM:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
The workup of dwarfism should probably be done by an endocrinologist.
Many of the causes are genetic and untreatable, but it would be a shame to
miss cretinism, hypopituitarism, or Turner syndrome. All of these have
associated findings that should help to differentiate them, but
hypopituitarism may be very subtle. Cystic fibrosis can be diagnosed by a
sweat test. Down syndrome, Turner syndrome, and certain other genetic causes
can be determined by a chromosomal analysis.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
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