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Saenger, K. Albertsson Wikland, G. Conway, M. Davenport, C. Gravholt, R. Hintz, O. Hovatta, M. Hultcrantz, K. Landin-Wilhelmsen, A. Lin, B. Lippe, A. Pasquino, M. Ranke, R. Rosenfeld, M. Comprehensive recommendations on the diagnosis of Turner syndrome TS and the care of affected individuals were published in In the light of recent advances in diagnosis and treatment of TS, an international multidisciplinary workshop was convened in Marchin Naples, Italy, in conjunction with the Fifth International Symposium on Turner Syndrome to update these recommendations.
The present paper details the outcome from this workshop. The genetics and diagnosis of the syndrome are described, and practical treatment guidelines are presented. Short stature and gonadal dysgenesis are two of the characteristic clinical features of the syndrome, although many organ systems and tissues may also be affected to a lesser or greater extent. The range of morbidities associated with the syndrome can have a profound effect on quality of life, and there is a clear need for an integrated multidisciplinary approach to treatment.
Since publication of the recommendations for the integrated management of individuals with TS in 3important advances have been made in diagnosis and treatment.
The present paper updates the recommendations and is based on detailed discussions at an international multidisciplinary workshop held in March Turner syndrome or Ullrich-Turner syndrome may be defined as the combination of characteristic physical features and complete or partial absence of the second sex chromosome, with or without cell line mosaicism. The first criterion thus excludes some individuals without clinical features of TS who may, nonetheless, meet the cytogenetic criterion.
Prenatal diagnosis. Most prenatally detected cases of TS are discovered incidentally during chorionic villous sampling or amniocentesis performed for unrelated reasons, the most common being advanced maternal age, which itself is not associated with an increased incidence of TS 16. Certain ultrasound findings indicate an increased likelihood of TS. Increased nuchal translucency on ultrasound is frequently seen in TS, but may also be observed in several trisomic syndromes; the presence of a cystic hygroma makes the diagnosis of TS more likely. Neither ultrasound nor maternal serum screening should be considered diagnostic of TS, however, and karyotype confirmation should be obligatory.
Even when the prenatal diagnosis has been made by karyotype, chromosomes should be reevaluated postnatally 8. Fetuses with a 45,X karyotype have a high probability of being spontaneously aborted. Nevertheless, a 45,X karyotype, even with ultrasound evidence of cystic hygroma, lymphedema, and effusions is not incompatible with delivery of a viable newborn.
Current data indicate, however, that many fetuses diagnosed prenatally are electively aborted 689. It is important for physicians and counselors to recognize that studies providing genotype-phenotype correlations are subject to considerable ascertainment bias, and that the phenotype of an affected fetus may be difficult to predict 10 In such situations, even the likelihood of short stature or infertility is impossible to predict.
Physicians and genetic counselors involved in pre- and postdiagnostic counseling need to be fully informed about the prognosis, complications, and quality of life of individuals affected with TS as well as of recent advances in management. Prenatal counseling involves a frank discussion of the variability of somatic anomalies, the high likelihood of short stature and ovarian failure, and their correct management.
It should be emphasized that individuals with TS can be healthy, happy, and productive members of society. In general, any of the features of TS may be seen with virtually any of the common karyotypes Again, it is important to recognize that published TS series are all characterized by some degree of ascertainment bias. These patients should not, therefore, be ased the diagnosis of TS, although they merit repeat karyotyping on delivery and follow-up of their gonadal development and growth postnatally. Speaking with children and Adult sex dating in turner oregon with TS and their families can be an important source of support for parents.
It is equally important that pediatric endocrinologists, reproductive endocrinologists, geneticists, and other physicians familiar with TS should be available to provide prenatal consultation. Postnatal diagnosis. Karyotype methods : All individuals with suspected TS see below should have a karyotype performed. Sufficient s of cells should be counted to exclude low percentage mosaicism, although it is recognized that this can never be totally excluded. Although a peripheral blood karyotype is usually adequate, if there is a strong clinical suspicion of TS, despite a normal blood karyotype, a second tissue, such as skin, may be worth assessing.
Probing for Y chromosome material should be performed in any TS patient with evidence of virilization, or when a marker chromosome a sex chromosomal fragment of unknown origin, i. Y is found This can be achieved by DNA hybridization or fluorescent in situ hybridization using a Y centromeric or short arm probe and may require probing of multiple tissues. Probing for the Sry gene may fulfill this function, but it is important to recognize that although Sry is associated with male gonadal differentiation, it does not appear to be the gene responsible for gonadoblastoma.
Routine screening of all TS patients for Sry does not appear warranted. The presence of Y chromosome material may cause the development of gonadoblastoma. Even so, gonadectomy remains the procedure of choice to exclude malignancy with absolute certainty. In instances where patients or parents decide against gonadectomy, detailed vaginal sonography supplemented with color Doppler sonography of the gon at regular intervals may be sufficient to monitor some patients with Y chromosome material.
Indications for karyotype: Clinicians should always consider the diagnosis of TS in any female patient with unexplained growth failure or pubertal delay. As described for adults see latera multidisciplinary approach to treatment is important to improve the quality of life of girls with TS. Cardiac evaluation and management. At the time of diagnosis, all individuals, regardless of age, should have a cardiac evaluation, including a complete physical examination and an echocardiogram.
A cardiologist skilled in the assessment of congenital heart disease should interpret the echocardiogram.
Blood pressure should be monitored at least annually in all patients with TS. If a cardiovascular malformation is present, the patient should be followed by a cardiologist in collaboration with the primary physician. Patients with a structural CHD will require antibiotic prophylaxis for subacute bacterial endocarditis before dental work and any other contaminating procedure.
Monitoring for aortic root dilation should be guided by the type and severity of the underlying cardiac problem. Thus, patients with risk factors for aortic root dilation, such as BAV, COA, aortic stenosis without BAV, aortic regurgitation, or hypertension, will require closer examination. If the initial cardiac evaluation from childhood does not show CHD, a repeat cardiovascular physical examination and echocardiogram, with particular attention paid to the aortic root, should be conducted at some time during adolescence 12—15 yr of age.
Although the vast majority of TS patients with aortic root dilation have an underlying risk factor, a small vulnerable minority do not 2023 In view of the limited information available in this regard, it is unclear whether more frequent echocardiography is warranted in patients without CHD 20 In any case, echocardiograms should not be ordered in isolation, but should be conducted in concert with a physical examination of the patient. Recognizing that TS patients with 45,X and neck webbing are at greater risk of having COA 212526 and that the detection of COA in the newborn can be challenging, subsequent reevaluation with ongoing monitoring of upper and lower extremity blood pressure and pulses should be performed.
If aortic root enlargement is detected, the cardiologist should obtain subsequent echocardiograms based on the severity of the dilation present. When the echocardiographic image is poor, computed tomography or magnetic resonance imaging can usually provide superior images. However, the two imaging modalities may not be directly comparable because of technical differences between the two, including edge detection, angle dependence, and operator-dependent variability.
Such differences should be considered when deciding whether there has been a ificant increase in the aortic root diameter. Blood pressure should be monitored carefully in patients with aortic root dilation. Evaluation of renal anatomy. Rotational abnormalities and double collecting systems are found most frequently.Academic Coaching For World Changer
Although many of these abnormalities do not have clinical ificance, some may result in an increased risk of hypertension, urinary tract infections, or hydronephrosis Therefore, all individuals with TS should have a renal ultrasound study performed at the time of diagnosis. If abnormalities are detected, further evaluations should be performed, and the appropriate therapy instituted.
Additionally, in such individuals, ultrasound and urine cultures should be performed every 3—5 yr. Blood pressure. Hypertension is common in TS, even in the absence of cardiac or renal malformations Blood pressure should therefore be monitored at each physical examination.5 Best Naughty Dating Sites [Let’s Hook you up!]
Thyroid function. Often, there are no overt clinical symptoms. Levels of TSH and total or free T 4 should therefore be measured at the time of diagnosis and at intervals of 1—2 yr thereafter. Conductive and sensorineural hearing loss are common in girls with TS The outer, middle, and inner ear are all affected, and hearing problems and ear malformations correlate with the karyotype Outer ear.
Middle ear. The cause is still unknown, but growth retardation of the temporal bone may be important. Aggressive treatment of otitis media is appropriate, and insertion of ventilation tubes should be considered. Careful follow-up is important. Patients with chronic middle ear problems should be operated on without delay to prevent sequelae. Short girls with extensive otitis media problems should be referred to an endocrinologist if TS has not ly been diagnosed.
Inner ear. The sensorineural dip can occur as early as 6 yr of age and occasionally le to hearing impairment during childhood. The condition is progressive, however, and commonly le to hearing problems in later life, which may have serious social consequences. Girls with TS often have speech problemsAdult sex dating in turner oregon
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