1/18. A case of 45,X turner syndrome with spontaneous ovulation proven by ultrasonography.A well-documented case of non-mosaic turner syndrome, with spontaneous pubertal development and ovulatory cycles is reported. mosaicism could be excluded both by karyotyping of 172 metaphases of blood lymphocytes and fibroblasts, and by fluorescence in situ hybridization, using an X-centromeric probe, in 200 blood lymphocyte nuclei. This turner syndrome patient underwent normal pubertal development, with spontaneous menarche at 14 years, followed by regular monthly periods. Hormonal measurements performed during puberty were consistent with the patient's pubertal development. At the age of 26 years the patient was referred for complete fertility evaluation. Detailed hormonal analyses were performed in a given cycle. They showed midluteal phase estradiol and progesterone values within the range corresponding to normal ovulation and corpus luteum function. In the same cycle, pelvic ultrasonography was also performed at days 13, 15 and 18. It demonstrated a spontaneous ovulation, with follicular rupture that occurred between days 15 and 18. This is the first report of a spontaneous ovulation in turner syndrome evidenced, not only by hormonal analysis, but also by ultrasonographic demonstration of follicular rupture.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
2/18. celiac disease and Turner's syndrome: patient report.Turner's syndrome is a chromosomal disease frequently associated with autoimmune disorders including thyroid disease, inflammatory bowel disease, diabetes mellitus and juvenile rheumatoid arthritis. Recent reports have described an association of celiac disease with Turner's syndrome. We present an additional patient with Turner's syndrome associated with celiac disease. A girl aged 15- 7/12 yr was seen for the complaints of delayed growth and puberty, abdominal pain and chronic diarrhea. She was diagnosed as having celiac disease and a gluten-free diet was initiated. Despite one year of strict diet no signs of puberty were observed. She was then evaluated again for absence of puberty, and 45,XO karyotype Turner's syndrome was diagnosed.- - - - - - - - - - ranking = 3keywords = puberty (Clic here for more details about this article) |
3/18. Typical Turner's syndrome with 45 XO karyotype and normal menstruation. Cytogenetic and histological findings.The clinical, laboratory, histological and cytogenic findings in a patient with Turner's syndrome with normal menstruation are presented. Although the phenotype and karyotype were those of Turner's syndrome, normal sexual development and periods occurred at puberty. The endocrine studies revealed onyl a mild diabetic oral glucose tolerance test. At laparotomy, normal uterus, fallopian tubes and ovaries were seen. Histological examination of the ovaries showed several primordial follicles and a follicle cyst. Tissue cultures of lymphocytes, skin fibroblasts and ovary revealed a single line of cells with the 45 XO karyotype. Although 25 cases of Turner's syndrome with normal sexual development have been reported, most of them were mosaics and only a small number showed the pure 45 XO karyotype.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
4/18. A spontaneous and uneventful pregnancy in a Turner mosaic with previous recurrent miscarriages.BACKGROUND: Conception without ovum donation is very rare in patients with turner syndrome, occurring mainly in mosaics, and only a third of these natural pregnancies are associated with normal outcome. CASE REPORT: A spontaneous pregnancy is described in a Turner mosaic (45,X/46,XX) with normal puberty and nine previous first-trimester miscarriages who had refused ovum donation. She also declined antenatal genetic diagnosis. Pregnancy remained uneventful with frequent surveillance and psychosocial support. She delivered a live boy weighing 3260 g (50(th) percentile) and measuring 48 cm (50(th) percentile) with normal karyotype at term. CONCLUSION: The diagnosis of mosaic turner syndrome should be considered in women who have recurrent abortion. Pregnancy may have a good outcome in these patients despite the greater likelihood of recurrent miscarriage.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
5/18. A nonmosaic 45,X karyotype in a mother with Turner's syndrome and in her daughter.OBJECTIVE: To describe a woman with a nonmosaic (45,X) form of Turner's syndrome who gave birth to a girl with 45,X turner syndrome. DESIGN: Patient report. SETTING: Outpatient clinic of a university hospital. PATIENT(S): A woman with typical phenotypic features of turner syndrome and a 45,X karyotype and her daughter with the same karyotype. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Routine karyotype analysis on 200 white blood cells on two different occasions, on skin fibroblasts (1,000 mitoses) and on ovarian fibroblasts. Translocation of X-chromosome material was investigated by a complete X paint and fluorescent in situ hybridization analysis. RESULT(S): The patient had a spontaneous puberty and became pregnant on three occasions. Her first daughter has a normal karyotype, the second pregnancy ended in spontaneous abortion, and after the third pregnancy, a girl was born with a 45,X karyotype. karyotype analysis of a large number of mitoses in three different cell types failed to demonstrate any mosaicism. Translocation of X-chromosome material was ruled out by fluorescent in situ hybridization analysis with an X paint. CONCLUSION(S): This is a rare case of pregnancy in a nonmosaic turner syndrome patient and, to our knowledge, is the only one that resulted in a live-born baby with the same karyotype. Cryptic mosaicism could not be found despite thorough investigations. Some hypotheses are presented that may explain this unique event.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
6/18. Girls with Turner's syndrome with spontaneous menarche have an increased risk of endometrial carcinoma: a case report and review from the literature.BACKGROUND: patients with Turner's syndrome receiving unopposed estrogens for the induction of feminization have an increased risk of endometrial carcinoma. Only seven patients who were not treated with estrogen replacement therapy have been reported to have developed endometrial carcinoma at different age levels. CASE: A young girl with Turner's syndrome phenotype, spontaneous puberty, and karyotype 45,X0/47,XXX from peripheral blood, after irregular menstrual cycles of 9 years, at the age of 21, was diagnosed with a non-invasive well-differentiated endometrial carcinoma confined to a hyperplastic endometrial polyp. Analysis of the ovarian tissue by FISH confirmed mosaicism: 45,X0/46,XX/47,XXX. CONCLUSION(S): The endogenous estrogen secretion from the ovaries might have caused malignancy in this case. patients with Turner's syndrome with spontaneous menarche might carry a higher risk of endometrial carcinoma.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
7/18. Spontaneous pregnancy and birth of a normal female from a woman with turner syndrome and elevated gonadotropins.OBJECTIVE: To provide data for pregnancies in girls with turner syndrome. Only 5%-10% of TS girls undergo spontaneous puberty and have menses. Spontaneous pregnancy occurs in 2%-7% of TS girls and is associated with a high rate of miscarriages, stillbirths, malformations, and chromosomal aberrations. Besides fetal problems, pregnancy in TS girls is of high risk for the mothers as well. DESIGN: Case report. SETTING: Academic unit. PATIENT(S): One patient, now aged 28 years, was referred for short stature at age 13 years after an operation for coarctation of the aorta. The karyotype was 88% 45X, 5% 46XX, 5% 47XXX, 2% XO Fr. The gonadotropin values at presentation and on follow-up ranged from high normal to high levels. Pubertal development and menses occurred spontaneously. At the age of 20 and 21 years, dominant follicles of 14 and 17 mm, respectively, were found on sonography. She conceived spontaneously at the age of 26 years and had an uneventful pregnancy, giving birth to a normal girl with normal chromosome constitution and birth weight of 2,800 g. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): pregnancy outcome. RESULT(S): Successful spontaneous pregnancy. CONCLUSION(S): Bearing in mind the serious problems of fertility and pregnancy outcome encountered in TS girls, we considered such a rare escape from the expected course of biological events to be worth reporting.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
8/18. hyperthyroidism accelerates growth in Turner's syndrome.Graves' disease in a girl with Turner's syndrome (karyotype 46,Xdel(Xp)) is described. hyperthyroidism led to a pronounced acceleration of height velocity. During treatment with methimazole and L-thyroxine, height velocity normalized. The patient also developed spontaneous puberty with a clear-cut pubertal growth spurt. Final height, however, did not appear to be influenced either by Graves' disease or by spontaneous puberty.- - - - - - - - - - ranking = 2keywords = puberty (Clic here for more details about this article) |
9/18. prader-willi syndrome and mosaic Turner's syndrome.We present a female with both prader-willi syndrome and Turner's syndrome, a combination not previously reported. We review her clinical presentation and discuss her growth pattern, mental development, and puberty, in relation to her mosaic Turner and Prader-Willi syndromes.- - - - - - - - - - ranking = 1keywords = puberty (Clic here for more details about this article) |
10/18. Treatment of precocious puberty in two patients with Turner mosaicism.Turner's syndrome (TS) is clinically characterized by reduced growth, ovarian dysgenesis and infertility. The majority of patients with TS do not undergo spontaneous pubertal development. We report two patients with mosaic Turner karyotype who experienced precocious pubertal development. The first patient responded well to LHRH analog treatment and now has regular menses and has nearly achieved her target height. The second patient was treated with both LHRH analog and recombinant growth hormone. LHRH analog delayed puberty for the patient and the recombinant growth hormone increased the patient's predicted height from 145 cm to 158 cm. This report emphasizes that the treatment goals and modalities of patients must be tailored to the individual to optimize pubertal and growth outcomes.- - - - - - - - - - ranking = 5keywords = puberty (Clic here for more details about this article) |
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