Retrocaval ureter in Turner syndrome.
Turner syndrome is commonly associated with urinary tract anomalies. A second case is reported of its unusual association with retrocaval ureter and massive hydronephrosis.
Adult↗
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Lateralized neurologic deficits and psychopathology in a Turner syndrome patient.
A Turner syndrome patient has been studied by more extensive neuropsychological testing than has previously been reported with such patients. Testing indicates impairment of a variety of functions normally subserved by the right cerebral hemisphere. If replicated with other Turner patients, a lateralized neurologic deficit is implicated as part of the syndrome. Also, this case illustrates the importance of family support and sensitive professional treatment in determining the psychological outcome of this disorder. As an important therapeutic consideration, we describe psychologically detrimental effects of delayed estrogen treatment with an older Turner syndrome patient.
Adult↗
Familial Turner syndrome.
Seven women in three generations of a family have been affected by Turner syndrome. Turner phenotype in this family is the result of deletion of the entire short arm of one X chromosome. The short arm deletion is transmitted by carriers of a balanced X-1 translocation. Autoradiographic findings showed that the deleted X chromosome was late labeling in those persons with Turner syndrome, whereas the normal X chromosome was late replicating in carriers of the balanced translocation. The results of Xga typing of erythrocytes suggest that the Xg locus is on the short arm of the X chromosome. Because of the clinical implications, we believe that families of persons with structural chromosomal abnormalities should be studied to exclude familial transmission.
Adolescent↗
The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis.
The patterns of length alterations in the hand bones in cases of pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and acrodysostosis were evaluated. The length of each of the hand bones was measured and compared to appropriate means for age and sex. The pattern profiles thus generated showed that those for PHP and PPHP are almost identical, and are similar to that seen in acrodysostosis, except for the much smaller size of the bones seen in the latter condition. PHP and PPHP are probably differend manifestations of the same entity, and acrodysostosis may also be related to them. Brachydactyly E is indistinguishable radiologically from the PHP-PPHP syndrome.
Abnormalities, Multiple↗
[The Ulrich-Turner syndrome in a female infant].
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Abnormalities, Multiple↗
[Noonan's syndrome. (Male Turner's syndrome, Turner-like syndrome)].
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Humans↗
[Kidney anomalies in Ullrich-Turner-syndrome (author's transl)].
Intravenous urography was performed in fourteen children with Ullrich-Turners syndrome. Renal abnormalities have been noted in twelve cases (85,7%). The most frequent kidney anomalies were malrotations (28,5%), horseshoe kidneys (21,4%) and double kidneys (21,4%). Malformations of kidney are thus a very frequent feature in Ullrich-Turners syndrome. It is therefore recommendable to perform in any case of Ullrich-Turners syndrome an intravenous urography, since these abnormalities are clinically latent.
Adolescent↗
Dermatoglyphic differences between 45,X and other chromosomal abnormalities of Turner syndrome.
The dermatoglyphic findings in 87 patients with Turner syndrome are summarized. Comparisons are made between the 50 cases with 45,X karyotypes and the remaining 37 with different chromosomal abnormalities including 19 patients with an X long arm isochromosome cell line. The results indicate differences between the 45,X patients and the other chromosomal types which are in the same direction as the changes reported between Turner syndrome and normal controls.
Adolescent↗
Oxandrolone therapy in patients with Turner syndrome.
Long-term, low-dosage androgen treatment of patients with Turner syndrome results in more rapid growth and significantly greater adult height than in control patients who receive only estrogen for pubertal development. Seventeen patients treated with oxandrolone for one year and ten treated for two years had significantly greater growth velocities during than before treatment. Mean adult height of 25 patients treated with oxandrolone, fluoxymesterone, or both was significantly taller than the height of adult patients with Turner syndrome treated with estrogen only. Excessive skeletal maturation was not generally observed.
Body Height↗
Turner syndrome with rare karyotypes.
Five cases of Turner syndrome with rare karyotypes are presented. The spectrum of chromosomal findings ranges from a female karyotype with a deletion of the short arm of one X chromosome, to a normal male karyotype. The following karyotypes were found: one case with 46,XXp--; two cases with 45,X/46,X,r(X); one case with 45,X/47,XYY; and one case with 46,XY.
Adolescent↗
A screening test for patients suspected of having Turner syndrome.
An index has been devised using dermatoglyphics and selected physical traits to screen for patients suspected of having Turner syndrome. About 60% of females with and without Turner syndrome can be diagnosed as having or not having the syndrome with a 98% or greater probability. The patient's score on the index, expressed in probability, can be used to decide whether chromosome studies should be done. Using the approach demonstrated in this pilot study, the discriminative power can be increased by adding more features and by enlarging the sample to permit division of features into more discriminating classes.
Adolescent↗
An uncommon phenotypical variant in the Shereshevsky-Turner syndrome.
Three young girls of short stature and with somatic anomalies typical for the Shereshevsky-Turner syndrome are described. Signs of sexual maturation and menarche appeared on time. Later on, menstrual periods came to resemble juvenile bleedings. Karyotypes determined in lymphocyte culture were 45,X/46,XX/47,XXX; 45,X/46,XXp-; and 46,XXp-, respectively. A possibility of spontaneous sexual maturation in patients with the Shereshevsky-Turner syndrome is discussed.
Adolescent↗
Gastrointestinal hemorrhage in Turner syndrome. Long-term follow-up with postmortem examination.
A 57-year-old woman with Turner syndrome had severe recurrent gastrointestinal bleeding. Exploratory laparotomy at the age of 26 showed an extensive telanglectasia of the entire small intestine. Following death due to myocardial infraction at age 57, postmortem examination revealed only a 0.2-cm residual telangiectasia in the mucosa of the distal part of the ileum. Spontaneous regression of the intestinal telangiectasia observed in Turner syndrome may occur and account for the improved prognosis with age.
Autopsy↗
[Dwarfism and the Shereshevskiĭ-Turner syndrome in patients with congenital toxoplasmosis].
Fifty five patients with cerebral and hypophyseal nanism and Shereshevsky-Turner syndrome were examined for toxoplasmosis. The diagnosis of toxoplasmosis was established on the basis of epidemiological and obstetrical anamnesis, clinical and roentgenological data and serological tests (complement fixation test in 2 modifications--by common and droplet method; precipitation test, fluorescent antibody test) and intradermal allergic test with toxoplasmin (ATT). Of 48 patients with cerebral and hypophyseal nanism ATT proved to be positive in 17 (35.4 per cent); it was positive in 3 of 7 patients with Shereshevsky-Turner syndrome. In some of the patients and their mothers serological tests for toxoplasmosis were also positive. Thus, toxoplasmosis infection among the patients examined was 2.5-3 times more incident than the corresponding indices in healthy children. It is supposed that there is pathology of hypothalamic regulation of hypophyseal functions in toxoplasmosis and nanism. A possibility of pathology of the generative apparatus in maternal toxoplasmosis leading to development of chromosomal embryopathies could not be excluded. The authors consider that further studies are necessary for ascertaining (in some of the cases) of the pathogenetic association between toxoplasmosis and growth and developmental disturbances.
Adolescent↗
No evidence for chromosomal mosaicism in multiple tissues of 10 patients with 45, XO Turner syndrome.
Why the frequency of spontaneous abortions among monosomy X conceptuses is 98% while the postnatal course of Turner syndrome is relatively benign has not been understood. One explanation could be that mosaicism for a euploid cell line confers viability and that those 2% of 45,XO zygotes surviving in utero have some degree of mosaicism. We thus reasoned that if the non-mosaic 45,XO karyotype is lethal, a thorough study of living Turner syndrome patients might reveal a much higher frequency of mosaicism than the 30--40% reported. Ten adult women with a 45,XO leukocyte karyotype were investigated, looking at five tissue types from all three germ layers: buccal mucosa and hair from ectoderm, urinary epithelium from endoderm and ectoderm, and lymphocytes and skin fibroblasts from mesoderm. We were unable to confirm mosaicism in these patients, although in 2 out of 10 there was the suggestion of a small percentage of euploid cells in skin and blood karyotypes.
Abortion, Spontaneous↗
Unexpected Virilization in a Patient with Turner Syndrome with Unbalanced Y/7 Translocation in the Gonadal Tissue: Gonadoblastoma Diagnosis.
Turner syndrome (TS) may involve tissue-restricted mosaicism, undetectable in standard peripheral blood karyotyping. This poses a diagnostic challenge, particularly when occult Y-chromosome material increases gonadoblastoma risk. We report an 18-year-old girl with TS (45,X), short stature on recombinant human growth hormone and severe intellectual disability, who developed virilization at age 12. Laboratory testing showed hypergonadotropic hypogonadism with elevated testosterone. Imaging failed to detect gonads. Bilateral gonadectomy revealed streak gonad tissue and testicular tissue with intratubular germ cell neoplasia and focal gonadoblastoma. High-resolution cytogenetics confirmed gonadal mosaicism with unbalanced Y/7 translocation, absent in lymphocytes. This case highlights that unexplained virilization in TS warrants immediate evaluation and that high-resolution genomic methods and timely gonadectomy are essential for cancer risk reduction.
Humans↗
Pregnancy and the Turner syndrome.
A 21-year-old white female with short stature, cubitus valgus, multiple cutaneous nevi, and no other major features of the Turner syndrome is described. She had normal secondary sex development and menses. She recently completed a normal pregnancy with delivery of a normal male infant. Postpartum endocrine studies were normal. All cells examined from blood, skin, uterus, and both ovaries had a 45,X karyotype. She is the sixth reported monosomy X patient to achieve pregnancy. A literature review indicates increased fetal wastage (22 of 46 pregnancies) and increased chromosomal errors in the offspring (8 of 26 liveborn infants) of patients with a 45,X cell line. Three cases of trisomy 21 occurred in these infants. Amniocentesis and prenatal diagnostic studies are indicated for women with a 45,X chromosome constitution. The pathogenesis of the Turner syndrome is considered in relation to these findings.
Adult↗
[A case of carcinoma of the cervix in Turner-syndrome (author's transl)].
A case of carcinoma of the cervix in a patient with Turner-Syndrome is reported. The possible causes of the rare coincidence of these two diseases are discussed.
Female↗