1/54. 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 = 1keywords = streak (Clic here for more details about this article) |
2/54. FISH and PCR analysis of the presence of Y-chromosome sequences in a patient with Xq-isochromosome and testicular tissue.Mixed gonadal dysgenesis includes a heterogeneous group of different chromosomal, gonadal, and phenotypic abnormalities, characterized by the presence of a testis on one side and streak or an absent gonad on the other, persistence of mullerian duct structures and/or wolffian derivatives, and a variable degree of genital ambiguity. Here, we describe a patient with virilized external genitalia and phenotypic features of turner syndrome, whose blood karyotype was 45,X/46,X,i(Xq). The presence of a unilateral dysgenetic testis was confirmed by histopathology. Using fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR)-based analysis to detect Y-specific sequences, Y-chromosome material was not detected. To date, this is the first case reported of Xq-isochromosome associated with the presence of testicular tissue.- - - - - - - - - - ranking = 1keywords = streak (Clic here for more details about this article) |
3/54. Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.leydig cells and sertoli cells of the testes produce hormones that cause male differentiation, if receptors are present. The Y chromosomal SRY gene (sex determining Region Y gene) acts as TDF and is required for regular male sex determination. SRY represents a transcription factor belonging to the superfamily of genes sharing the HMG-box motif(high-mobility group-box), which acts as dna binding region. Here, we describe a nonmosaic XY sex-reversed female with pure gonadal dysgenesis (46,XY karyotype, completely female external genitalia, normal mullerian ducts, absence of wolffian ducts, streak gonads) who harbored a yolk-sac tumor and was referred for the assessment of primary amenorrhea. Using genomic PCR analysis, a 423-bp PCR product, encompassing the HMG-box of the SRY gene, was amplified from the proposita, her father, and her three brothers, whereas no band was visible in the patient's mother and her three sisters. The PCR products were sequenced for mutations subsequently. A new de novo missense mutation within the HMG-box of the SRY gene was discovered in the proposita. A G is replaced by an A in codon 95 at position 284, resulting in the replacement of the nonpolar aminoacid glycine by the polar amino acid glutamate. The glycine at codon 95 is highly conserved between the family of HMG-box proteins and between species. This point mutation has not been described earlier and brings the total number of SRY mutations described so far to 36, each mutation being unique. This mutation was not detected in the patient's father and her male siblings. The present data provide further evidence to support the functional importance of the putative dna binding activity of the SRY HMG-box domain.- - - - - - - - - - ranking = 1keywords = streak (Clic here for more details about this article) |
4/54. Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism.BACKGROUND: Dysgenetic male pseudohermaphroditism (DMP) is a sexual differentiation disorder characterized by bilateral dysgenetic testes, persistent mullerian structures, and cryptorchidism in individuals with a 46,XY karyotype. However, the histologic criteria for the diagnosis of DMP are poorly established. OBJECTIVE: To determine gonadal histology in children with DMP. patients AND methods: Between 1996 and 1998, 13 patients with DMP were evaluated on our service. The clinical diagnosis of DMP was based on a 46,XY karyotype, sex ambiguity, high levels of follicle-stimulating hormone and low levels of antimullerian hormone, a decreased testosterone response to human chorionic gonadotropin stimulation without accumulation of testosterone precursors, and the presence of mullerian structures. Molecular sequencing the HMGbox region of the SRY gene did not reveal any mutations. Biopsies were performed for 22 of 26 gonads (patient age at the time of biopsy, 16 months to 10 years). Conventional microscopy was used to evaluate mean tubular diameter, tubular fertility index, and number of sertoli cells per tubular profile. RESULTS: All 26 gonads were located outside of the labioscrotal folds. Their histologic features varied from only a reduction in tubular size to features of a streak gonad. Five of the 22 gonads grossly resembled a streak gonad. The mean tubular diameter was severely reduced (>30% reduction relative to the normal tubular diameter for the patient's age) in 4 gonads, markedly reduced (10%-30%) in 11 gonads, slightly reduced (<10%) in one gonad, and normal in one gonad. The tubular fertililty index, expressed as the percentage of tubular profiles containing germ cells, was severely reduced (<30% of normal values) in 9 gonads, markedly reduced (50%-30%) in 2 gonads, and normal in 6 gonads. The number of sertoli cells per tubular profile was elevated in 16 gonads and normal in one gonad. Thin tubules surrounded by fibrous tissue were occasionally observed. CONCLUSION: The histologic findings confirmed the clinical diagnosis of DMP in every patient in the present series. However, gonadal histology was variable, and careful morphometric evaluation may be necessary to establish the diagnosis.- - - - - - - - - - ranking = 2keywords = streak (Clic here for more details about this article) |
5/54. 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 = streak (Clic here for more details about this article) |
6/54. Ovarian dysgenesis with balanced autosomal translocation.Autosomal translocations are rare in the patients with ovarian dysgenesis. An 18-year-old female who presented with primary amenorrhoea had hypergonadotropic hypogonadism and streak ovaries with hypoplastic uterus. karyotype analysis revealed a balanced autosomal translocation involving chromosomes 1 and 11. The probable role of autosomal translocations in ovarian dysgenesis has been discussed.- - - - - - - - - - ranking = 1keywords = streak (Clic here for more details about this article) |
7/54. Molecular analysis of frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis.The Wilms' tumor gene (WT1) encodes a protein that is believed to exert transcriptional and tumor-suppressor activities. Mutations in this gene have occasionally been associated with Wilms' tumor (<15% patients) and, more consistently, with three syndromes characterized by urogenital abnormalities (WAGR, Denys-Drash and Frasier syndromes). We report 17 years follow-up of a 29 year-old phenotypic female with 46,XY karyotype, gonadal dysgenesis and nephronophthisis in order to identify possible germline alterations of the WT1 gene. frasier syndrome was suspected and confirmed by genetic analysis. Sequence analysis permitted the identification of an A40-->G mutation in position 5 in the donor splice site of intron 9. During surgery for streak gonads extirpation, a microscopic gonadoblastoma was found, a typical complication of frasier syndrome.- - - - - - - - - - ranking = 1keywords = streak (Clic here for more details about this article) |
8/54. turner syndrome: a case of gonadal dysgenesis.An eighteen years old girl came from Ishargang, Mymensingh complaining of short stature, absence of development of breast, lack of menstruation and other secondary sex characters. She was found in infantile appearance with a height of 123 cm, body weight of 28 kg. She had short, broad, webbed neck, cuvitus valgus, absence of development of breast, axillary and public hairs with infantile external genitalia. Hormonal profile revealed high level of LH and FSH, low level of estrogens. ultrasonography revealed uterine hypoplasia and ill defined gonadal streaks, karyotype showed typical 45, X0 pattern. She was diagnosed as a case of gonadal dysgenesis due to turner syndrome.- - - - - - - - - - ranking = 1keywords = streak (Clic here for more details about this article) |
9/54. gonadal dysgenesis: case report.A case of gonadal dysgenesis is reported in an 18 year old Ethiopian boy who had a normal scrotum, a single descended gonad which is cytologically proven to be streak (dysfunctional) with undescended left gonad, a hypoplastic phallus with hypospadias and genitogram showing vaginal canal, uterus and fallopian tubes.- - - - - - - - - - ranking = 1keywords = streak (Clic here for more details about this article) |
10/54. 46,XX pure gonadal dysgenesis with growth hormone deficiency and impaired 3 beta-hydroxysteroid dehydrogenase activity.patients with 46,XX pure gonadal dysgenesis generally are of normal stature and have less than usual amounts of pubic and axillary hair. We report on a patient who presented at age 11.9 years with short stature, absence of breast development, and excessive pubic hair. Her karyotype in leukocytes, fibroblasts, and streak gonad was 46,XX. The patient was diagnosed as having growth hormone deficiency. Elevated ACTH stimulated levels of 17-hydroxypregnenolone and dehydroepiandrosterone and elevated ACTH stimulated ratio of 17-hydroxypregnenolone to 17-hydroxyprogesterone suggested inadequate adrenal 3 beta-hydroxysteroid dehydrogenase activity. Treatment with growth hormone resulted in improvement in growth velocity and replacement with estrogen in feminization. We suggest that the finding of short stature in patients with 46,XX pure gonadal dysgenesis should not be attributed to the syndrome, but rather requires investigation for possible growth hormone deficiency. The poor growth of our patient prior to growth hormone replacement implies that dehydroepiandrosterone, unlike testosterone and estrogen, is ineffective in promoting linear growth in the absence of adequate growth hormone.- - - - - - - - - - ranking = 1keywords = streak (Clic here for more details about this article) |
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