1/59. De novo duplication xq22-q23 in a girl with short stature and gonadal dysgenesis.A female of 20 years of age with short stature, gonadal dysgenesis and Turner stigmata with a de novo dup Xq22-q23 was studied. The maternal cytogenetic study was normal. This case represents the smallest Xq duplication in an abnormal female. We discuss the possibility of a maternal imprinting.- - - - - - - - - - ranking = 1keywords = gonadal dysgenesis, dysgenesis (Clic here for more details about this article) |
2/59. risk of gonadoblastoma in female patients with y chromosome abnormalities and dysgenetic gonads.We report two female patients with gonadal dysgenesis and sex chromosome mosaicism involving the y chromosome. Conventional karyotyping was supplemented with fluorescent in situ hybridisation techniques in order to confirm the presence of Y chromosomes. One patient is a phenotypic female with karyotype 45,X/46,X,idic(Y)(q11.2). She underwent a laparoscopic gonadectomy at which streak ovaries without evidence of gonadoblastoma were removed. The second patient presented as a virilised female with karyotype 45,X/47,XYY. At laparoscopy, she was found to have mixed gonadal dysgenesis with a gonadoblastoma in situ. We recommend early gonadectomy in female children presenting with gonadal dysgenesis and the presence of a y chromosome although once the gonadoblastoma locus on y chromosome gene has been cloned it may be possible to identify those patients who have a low risk of developing gonadoblastoma.- - - - - - - - - - ranking = 0.6keywords = gonadal dysgenesis, dysgenesis (Clic here for more details about this article) |
3/59. frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.The description of frasier syndrome until now has been restricted to XY females with gonadal dysgenesis, progressive glomerulopathy, and a significant risk of gonadoblastoma. Mutations in the donor splice site in intron 9 of the Wilms' tumor (WT1) gene have been shown to cause frasier syndrome and are distinct from WT1 exon mutations associated with denys-drash syndrome. The WT1 gene, which is essential for normal kidney and gonadal development, encodes a zinc finger transcription factor. The intron 9 alternative splice donor site mutation seen in frasier syndrome leads to loss of three amino acids ( KTS isoform), thus disrupting the normal ratio of the KTS/-KTS isoforms critical for proper gonadal and renal development. This study examines two sisters with identical intron 9 mutations. The proband carries a classic diagnosis of frasier syndrome with 46,XY gonadal dysgenesis, whereas her sister has progressive glomerulopathy but a 46,XX karyotype and normal female development. This indicates that the proper WT1 isoform ratio is critical for renal and testicular development, but apparently does not affect either ovarian development or function. It is proposed that the clinical definition of frasier syndrome should be broadened to include 46,XX females with normal genital development and focal segmental glomerulosclerosis associated with a WT1 intron 9 donor splice site mutation. Nephrologists need to consider the possibility of this heritable syndrome in evaluation of females with focal segmental glomerulosclerosis and to consider their risk for gonadal malignancy, as well as the risk for kidney disease, gonadal dysgenesis, and malignancy in their offspring.- - - - - - - - - - ranking = 0.6keywords = gonadal dysgenesis, dysgenesis (Clic here for more details about this article) |
4/59. Structural X-chromosome abnormality in a female with gonadal dysgenesis.A patient with gonadal dysgenesis and 46 chromosomes is described. In the inactive x chromosome there seems to be a deletion of the short arms and an insertion of heterochromatin in the long arms. The most probable mechanism to explain this structurally abnormal X is a pericentric inversion, with breakage and union having occurred in the centromeric heterochromatin of the short arm and in band q23 of the long arm. An amplification of the centromeric heterochromatin left in the short arm is also supposed.- - - - - - - - - - ranking = 1keywords = gonadal dysgenesis, dysgenesis (Clic here for more details about this article) |
5/59. An SRY-negative 47,XXY mother and daughter.Females with XY gonadal dysgenesis are sterile, due to degeneration of the initially present ovaries into nonfunctional streak gonads. Some of these sex-reversal cases can be attributed to mutation or deletion of the SRY gene. We now describe an SRY-deleted 47,XXY female who has one son and two daughters, and one of her daughters has the same 47,XXY karyotype. PCR and FISH analysis revealed that the mother carries a structurally altered y chromosome that most likely resulted from an aberrant X-Y interchange between the closely related genomic regions surrounding the gene pair PRKX and PRKY on Xp22.3 and Yp11.2, respectively. As a consequence, Yp material, including SRY, has been replaced by terminal Xp sequences up to the PRKX gene. The fertility of the XXY mother can be attributed to the presence of the additional x chromosome that is missing in XY gonadal dysgenesis females. To our knowledge, this is the first human XXY female described who is fertile.- - - - - - - - - - ranking = 0.4keywords = gonadal dysgenesis, dysgenesis (Clic here for more details about this article) |
6/59. Tall stature, gonadal dysgenesis, and stigmata of Turner's syndrome caused by a structurally altered x chromosome.Genetic analysis in a tall 14-year-old girl with gonadal dysgenesis and some stigmata of Turner's syndrome revealed a duplication of the short arm in a monocentric x chromosome with partial loss of Xq. We suggest that triple gene dosage of SHOX and estrogen deficiency caused the unique overgrowth.- - - - - - - - - - ranking = 1keywords = gonadal dysgenesis, dysgenesis (Clic here for more details about this article) |
7/59. A case of 46,X,der(X)(pter-->q21::p21-->pter) with gonadal dysgenesis, tall stature, and endometriosis.OBJECTIVE: To report a case of 46,X,der(X)(pter-->q21::p21-->pter) with gonadal dysgenesis, tall stature, and endometriosis. DESIGN: Case report. SETTING: A university hospital. PATIENT(S): A 20-year-old primary amenorrheal woman receiving estrogen-progestogen substitution. INTERVENTION(S): G-banding, comparative genomic hybridization, fluorescence in situ hybridization (FISH), and laparoscopy. MAIN OUTCOME MEASURE(S): A recombinant x chromosome, 46,X,der(X)(pter-->q21::p21-->pter), and pelvic endometriosis. RESULT(S): The patient's chromosomal abnormality was misjudged by the use of G-banding as a distal part deletion of the long arm in one x chromosome. comparative genomic hybridization and fluorescence in situ hybridization analyses with locus-specific probes revealed 46,X,der(X)(pter-->q21::p21-->pter). The laparoscopic examination showed bilateral streak gonads and blue berry spots at the pelvic peritoneum, which were confirmed by evaluation of biopsy specimens. CONCLUSION(S): Recent advances of genetic strategies make it easy to determine karyotype and phenotype abnormalities. We have to keep our mind on the potential of endometriosis with patients who are receiving estrogen-progestogen substitution.- - - - - - - - - - ranking = 1keywords = gonadal dysgenesis, dysgenesis (Clic here for more details about this article) |
8/59. 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 = 0.2keywords = gonadal dysgenesis, dysgenesis (Clic here for more details about this article) |
9/59. 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 = 1.2088253690573keywords = gonadal dysgenesis, dysgenesis (Clic here for more details about this article) |
10/59. Pure gonadal dysgenesis with an XY chromosomal constitution (Swyer's syndrome): Report of two cases.Two cases of Swyer's syndrome, characterized by rudimentary streaks in association with a 46,XY chromosome karyotype are reported. Both individuals were tall, with sparse axillary and pubic hair, and breasts were undeveloped in one and well developed in the other (she had some estrogen therapy). One had infantile but otherwise normal external genitals, while the other had poor development of labia majora and no clitoris. The vagina in each was normal, with a small cervix and uterus, and vaginal smears of the preadolescent type. Urinary 17-ketosteroids were normal, while gonadotropin levels were elevated. The gonadal streaks were extirpated, and histologic examination revealed the presence of fibrous stroma but no ova or follicles. Scattered clumps of leydig cells and mesonephris remnants were found in one patient. Both patients responded well to cyclic hormonal therapy, i.e., menstrual withdrawal bleeding and breast development.- - - - - - - - - - ranking = 0.8keywords = gonadal dysgenesis, dysgenesis (Clic here for more details about this article) |
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