1/41. XX-male syndrome bearing the sex-determining region Y.The case of a 25-year-old man who presented for evaluation of infertility is described. The physical examination revealed testicular atrophy without gynecomastia. Repeated seminal analyses showed azoospermia, and serum hormonal levels suggested a state of a hypergonadotropic hypogonadism. Chromosomal analysis demonstrated 46XX. polymerase chain reaction revealed the existence of a sex-determining region Y. The etiology of this rare sex reversal syndrome is discussed and cases reported in japan are reviewed.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
2/41. Pituitary tumor in a woman with a 47,XXX karyotype--case report.BACKGROUND: The 47,XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not associated with a characteristic physical phenotype. CASE REPORT: In presented case a 47 triple X women with pituitary tumor and premature ovarian failure is identified. Diagnosis of a 47,XXX individual remains difficult because specific clinical criteria used to identify this condition are not available. CONCLUSIONS: The case described should attract attention to how difficult it is to diagnose properly a genetic disease in young women with correct phenotype.- - - - - - - - - - ranking = 0.2379137246375keywords = physical (Clic here for more details about this article) |
3/41. sex chromosome mosaicism of X/XY or X/XY/XYY.To date, we have studied 7 patients with X/XY mosaicism, one of whom showed an X/XY/XYY pattern. Four patients presented as newly born infants because of incomplete male development, ambiguity of external genitalia or turner syndrome. The other 3 patients presented in midchildhood or early adult life. Bilateral gonadectomy, histologic examination of the gonads for tumor or testicular tissue, and chromosome analysis from blood and gonad specimens (and usually skin) were done in these 7 patients. The Y cell line and mosaicism were always detected in the blood culture although the predominant cell line in the majority of tissues was 45,X. The y chromosome in one of the patients failed to show the expected bright fluorescence over the long arm, and the y chromosome of another patient previously reported had a terminal nonfluorescing portion of the long arm. patients with masculinization showed normal height and, on laparotomy, mixed gonadal dysgenesis. patients with turner syndrome showed bilateral streak gonads (2) and, in one 2 1/2-year-old girl, a bilateral gonadoblastoma. All patients with turner syndrome were less than the third percentile in height. All 7 patients were reared as female, 4 of them requiring surgery to diminish the size of the clitoris. All 7 patients appeared to be developing normally. Nonrecognition or delay of the diagnosis, which still occurs in this condition, appears to be a result of the mild physical abnormalities in some patients and a clinical diagnosis of turner syndrome supported only by a negative X-chromatin result.- - - - - - - - - - ranking = 0.2379137246375keywords = physical (Clic here for more details about this article) |
4/41. Coexistence of gonadal dysgenesis and Mullerian agenesis with two mosaic cell lines 45,X/46,X,del(X)(p22.2).gonadal dysgenesis and Mullerian agenesis both are common causes of primary amenorrhea. Coexistence of gonadal dysgenesis and Mullerian agenesis has been previously described as a rare event. The karyotypes, 45,XO,45,X/46,XX,45,X/46,X,dic(X),46,XX, and 46,XY, have been reported in the literature. A 22-year-old woman presented with primary amenorrhea and normal intelligence. Her physical examination confirmed the absence of breast development and axillary hair. The woman weighed 43 kg and was 150 cm tall. scoliosis of the thoracic spine was noted on a chest x-ray film. Also, her pelvic examination revealed a vaginal introitus with a vaginal depth of 7 cm, measured by sounding. Her external genitalia were female but lacked pubic hair. The rectal examination failed to reveal a uterus. Pelvic ultrasound disclosed the absence of uterus and ovaries, and her serum gonadotropin levels were in the menopausal range (FSH, 118.59 IU/L; LH, 38.94 IU/L). estradiol was less than 10 pg/ml. Two mosaic cell lines, 45,X (50%) and 46,X,del(X)(p22.2X50%), were found in the chromosomal study. Laparoscopic evaluation confirmed the absence of uterus and ovaries with normal fallopian tubes. Coexistence of gonadal dysgenesis and Mullerian agenesis is a rare event. The two mosaic cell lines 45,X/46,X,del(X)(p22.2) in this combination have not been reported before. In patients with this condition, estrogen will initiate and sustain maturation and function of secondary sexual characteristics, and lifelong hormone therapy will protect against osteoporosis and cardiovascular disease.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
5/41. Boy with 47,XXY,del(15)(q11.2q13) karyotype and prader-willi syndrome: a new case and review of the literature.We report on a 10-year-old boy with a 47,XXY,del(15)(q11.2q13) karyotype and a prader-willi syndrome phenotype. His medical history and physical examination conformed to all of the major clinical criteria for prader-willi syndrome, but his height was taller than expected based on his hand and foot sizes. The deleted chromosome 15 was paternal in origin and molecular analysis showed maternal origin for the additional x chromosome. These findings suggest that the presence of these two disorders was coincidental in our patient. This supports the findings in the two other 47,XXY and Prader-Willi cases for which parent of origin studies have been published. Given the information from the literature and presented herein, we suggest that genetic counseling for cases of PWS and 47,XXY should address these two conditions separately.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
6/41. Triple-x syndrome accompanied by congenital adrenal hyperplasia: case report.The 47,XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not associated with a characteristic physical phenotype. In the presented case, a triple-X girl patient associated with 11beta-hydroxylase deficiency is identified. The case was referred to the endocrinology Unit at six days of age because of ambiguous genitalia. The karyotype in this case was 47,XXX, an unexpected finding. Diagnosis of 47,XXX individuals remains difficult because specific clinical criteria used to identify this condition are not available. Congenital adrenal hyperplasia has not been previously reported in patients with triple-X syndrome.- - - - - - - - - - ranking = 0.2379137246375keywords = physical (Clic here for more details about this article) |
7/41. Toxicity and outcome of intensive chemotherapy for acute lymphoblastic leukemia complicated with Turner's syndrome.A 17-year-old woman was diagnosed as acute lymphoblastic leukemia (ALL). As she had chromosomal abnormalities of 44, XO, der(9)t(3;9)(q11;p13), der(10;19)(q10;p10), del(15)(q15), -16, -19, 22 with the presence of ovarian dysplasia and abnormal physical features, a diagnosis of Turner's syndrome was made. She received an induction chemotherapy, which consisted of daunorubicin, cyclophosphamide, vincristine, L-asparaginase and prednisolone. Although, severe liver dysfunction was observed, the patient achieved a complete remission (CR) on day 31 following chemotherapy and has maintained CR for more than five years. The recording of such cases may well be of value to clarify toxicity and outcome after chemotherapy for patients with ALL complicated with Turner's syndrome.- - - - - - - - - - ranking = 0.2379137246375keywords = physical (Clic here for more details about this article) |
8/41. Fragile site Xq27.3 in a family without mental retardation.Routine parental blood analysis for a couple undergoing prenatal diagnosis because of maternal age, revealed a 47,XXX karyotype in the mother and expression of the fragile site Xq27.3 in the father. Additional family studies show the fragile site in the father's sister and her two sons. There is no history of intellectual handicap in this family, nor of any physical manifestations of the Fra(X) mental retardation syndrome.- - - - - - - - - - ranking = 0.2379137246375keywords = physical (Clic here for more details about this article) |
9/41. 46 XX male syndrome: a case report.INTRODUCTION: 46 XX male syndrome (de la Chapelle syndrome) is a rarely seen genetic disorder causing male infertility. It is generally a result of unequal crossing over between X and Y chromosomes. CASE REPORT: A 26-year-old infertile male was referred to the urology Department. He had normal external male genital phenotype and secondary sex characters. No gynecomastia was noted. At physical examination soft and atrophic testes were palpated. Laboratory analysis and testis biopsies indicated nonobstructive azospermia. Chromosomal analysis showed 46 XX karyotype. CONCLUSION: In the literature, there are various phenotypic properties of 46 XX male patients. Thus, translocation of the sex determining region (SRY) the gene probably cannot be the only reason for XX male syndrome. There might be some other abnormalities leading to de la Chapelle syndrome.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
10/41. Determination of the sexual phenotype in a child with 45,X/46,X,Idic(Yp) mosaicism: importance of the relative proportion of the 45,X line in gonadal tissue.We report on a girl who, despite her 45,X/46,X,der(Y) karyotype, showed no signs of virilization or physical signs of the Ullrich-turner syndrome (UTS), except for a reduced growth rate. After prophylactic gonadectomy due to the risk of developing gonadoblastoma, the gonads and peripheral blood samples were analyzed by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) to detect Y-specific sequences. These analyses allowed us to characterize the Y-derived chromosome as being an isodicentric Yp chromosome (idic(Yp)) and showed a pronounced difference in the distribution of the 45,X/46,X,idic(Yp) mosaicism between the two analyzed tissues. It was shown that, although in peripheral blood almost all cells (97.5%) belonged to the idic(Yp) line with a duplicated SRY gene, this did not determine any degree of male sexual differentiation in the patient, as in the gonads the predominant cell line was 45,X (60%).- - - - - - - - - - ranking = 0.2379137246375keywords = physical (Clic here for more details about this article) |
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