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Results for “Turner Syndrome”

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At least 19 recordsLinked to original sources
PubMed1979

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↗
PubMed1978

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↗
PubMed1979

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↗
PubMed1978

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↗
PubMed1979

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↗
PubMed1977

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↗
PubMed2026

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↗
PubMedDate not supplied

Variable X chromosomal abnormalities in patients with stigmata of Turner syndrome.

Four cases with suspected sex chromosomal abnormalities and clinical features and endocrine data typical of Turner syndrome are presented. Chromosome preparations made from skin fibroblasts and peripheral blood and multiple banding techniques employed to map the genes of their X chromosomes showed variable results. A review of the literature also revealed conflicting findings regarding the mapping of genes on the X chromosome. Despite different cytogenetic findings, the clinical features of the four cases presented were quite similar.

Adolescent↗
PubMed1979

[Endometrial carcino-sarcoma in a young woman with Turner syndrome (author's transl)].

Endometrial carcino-sarcoma is a rare rapidly growing mixed muellerian tumor. The pathogenesis of this tumor is not definitely known. However, the current explanation favors the theory of the growth of this tumor from pluripotential sub-epithelial cells. The incidence of the tumor is increased in post-menopausal women. Many of these women have a history of radiotherapy of the genital organs for benign gynaecological disease. A causal relationship between occurence of carcino-sarcoma and estrogen treatment as in carcinoma of the endometrium is not mentioned in the literature. The clinical signs and symptoms are non-specific as in many other malignant tumors of the uterine body. The prognosis is very bad. The average survival from the onset of the first symptoms is only a few months. The treatment of choice appears to be total abdominal hysterectomy and bilateral salpingo-oophorectomy. Radical operations and ancillary radiotherapy and chemotherapy do not appear to improve the survival rate. The extremely rare coincidence of a carcino-sarcoma in a young woman with Turner Syndrome gonadal dysgenesis after five years of treatment with estrogen led to the present case report.

Adult↗