1/42. 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 = testis (Clic here for more details about this article) |
2/42. A frame shift mutation in the dna-binding domain of the androgen receptor gene associated with complete androgen insensitivity, persistent mullerian structures, and germ cell tumors in dysgenetic gonads.OBJECTIVE: To describe the molecular, cytogenetic, immunohistochemical, and endocrinologic characteristics of a young 46,XY female with persistent mullerian structures and germ cell tumors in dysgenetic gonads. DESIGN: Descriptive case study. SETTING: Mackay Memorial Hospital and National Yang-Ming University, Taipei, taiwan. PATIENT(S): A 22-year-old 46,XY female with persistent mullerian structures, a low level of serum testosterone, and no apparent adnexal masses. INTERVENTION(S): Laparoscopic removal of the dysgenetic gonads. MAIN OUTCOME MEASURE(S): Detection of an androgen receptor gene mutation by a semiautomated dna sequencer, of the chromosomal complement by cytogenetic examination, of placental alkaline phosphatase activity by immunohistochemical analysis, and of neoplasms in dysgenetic gonads by histologic studies. RESULT(S): A unilateral gonadoblastoma and a contralateral gonadoblastoma associated with a dysgerminoma were found in the excised gonads. The tumors had a 46,XY complement. Placental alkaline phosphatase was present in the tumor cells. A frameshift mutation in the dna-binding domain of the androgen receptor gene was detected in the patient's blood and the tumor tissues. A five-nucleotide "AGGAA" deletion at codons 608 and 609 of the androgen receptor gene resulted in a missing arginine and lysine as well as a frameshift that introduced a stop codon 12 amino acid downstream from the mutation. CONCLUSION(S): Molecular genetic analysis of the androgen receptor gene aids in the rapid diagnosis of complete androgen insensitivity irrespective of atypical clinical phenotypes and endocrinologic parameters.- - - - - - - - - - ranking = 5.8666097390543E-5keywords = neoplasm (Clic here for more details about this article) |
3/42. Monozygotic twins of opposite sex.Although discordant karyotypes are known in identical twins, cases involving differences in sex phenotype are rare. We studied identical twins with the 46,XY karyotype - a male with mixed gonadal dysgenesis and a female with "pure" gonadal dysgenesis. The testis-determining SRY gene was present in dna from both twins but no mutations were detected in the SRY conserved motif. Monozygosity was indicated by short tandem repeat polymorphism analysis. These observations could be attributed to (i) mutation and mosaicism involving "downstream" sex-determining loci, (ii) variable penetrance of genes such as DSS/NR0B1, duplication of which can disrupt the male-determining pathway, or (iii) occurrence of cryptic 45,X gonadal cell lines.- - - - - - - - - - ranking = 0.5keywords = testis (Clic here for more details about this article) |
4/42. XY female with a dysgerminoma and no mutation in the coding sequence of the SRY gene.We report a 46,XY 11-year-old girl with pure gonadal dysgenesis who developed a dysgerminoma. The testis-determining gene SRY, a candidate for sex reversal, whose alterations seem to correlate with dysgerminoma, was analyzed and found to be normal; its coding sequence was negative for deletions and mutations. DMRT-1 gene mapping on 9p and DAX-1 on Xp21 were also normal. These results suggest the involvement of other genes in sex reversal and call into question the putative relationship between SRY alterations and dysgerminoma.- - - - - - - - - - ranking = 0.5keywords = testis (Clic here for more details about this article) |
5/42. End-stage renal disease and primary hypogonadism associated with a 46,XX karyotype.OBJECTIVE--To determine the cause of absent sexual development in a 17-year-old girl with end-stage renal disease. DESIGN--Case study. PARTICIPANT--Seventeen-year-old girl with end-stage renal failure. INTERVENTIONS--None. MEASUREMENTS/MAIN RESULTS--The patient had phenotypically normal external female genitalia, mullerian duct hypoplasia, and no ovaries. Her serum gonadotropin levels were in the castrate range at baseline and after gonadotropin-releasing hormone stimulation. Her karyotype, in lymphocytes and cultured fibroblasts, was 46,XX. Analysis of genomic dna, following polymerase chain reaction-amplication with oligonucleotide primers corresponding to the Y-encoded zinc finger protein ZFY and the testis-determining SRY gene, showed y chromosome material in a male control but none in the patient. CONCLUSIONS--The results suggest a diagnosis of frasier syndrome, a disorder characterized by true gonadal dysgenesis and end-stage renal disease occurring in normal phenotypic girls. Although previously reported only in individuals with a 46,XX karyotype, our studies indicate that frasier syndrome may also occur in 46,XX girls. Delayed puberty is not uncommon in renal failure. This case illustrates the importance of measuring gonadotropin levels in teenage girls with delayed puberty and renal failure, particularly if the origin of the renal disease is obscure.- - - - - - - - - - ranking = 0.5keywords = testis (Clic here for more details about this article) |
6/42. Absence of Turner stigmata in a 46,XYp-female.A 46,XY female patient with streak gonads and a large deletion of Yp is described. The deletion included the Y chromosomal genes SRY, ZFY, and RPS4Y. The patient did not display any Turner stigmata, such as webbing of the neck, cardiac or other abnormalities. The findings argue against an important role of RPS4Y in the prevention of Turner stigmata in males and are consistent with a role of SRY in testis differentiation in humans.- - - - - - - - - - ranking = 0.5keywords = testis (Clic here for more details about this article) |
7/42. Congenital juvenile granulosa cell tumor of the testis in a fetus showing full 69,XXY triploidy.Testicular juvenile granulosa cell tumor (TJGCT) occurs predominantly in infancy and may be associated with sex chromosomal abnormalities. We report a fetus aborted because of cytogenetically confirmed complete XXY triploidy. External genitalia of the fetus were female, with a short and patent vagina. The tumor presented as an abdominal multicystic mass with typical histologic and immunohistological features of JGCT. It was connected with a tubular uterus-like structure. The other gonad was an inguinally localized testis that showed histologically a Sertoli cell adenoma. Malformations typical for triploidy were also present: agenesis of the corpus callosum, stenosis of the pulmonary ostium, and hypoplasia of the lungs and adrenals. To our knowledge this is the first case of TJGCT in a triploid fetus.- - - - - - - - - - ranking = 2.5keywords = testis (Clic here for more details about this article) |
8/42. Surgical, medical and psychological dilemmas of sex reassignment: report of a 46,XY patient assigned female at birth.This is a report of a 16 year-old 46,XY male who was reassigned female and had feminizing surgery during infancy because of what was judged to be inadequate genital masculinization. This patient had a dysgenetic testis that was shown to be producing testosterone during infancy. Although initially the reassignment appeared to be successful, psychological problems became progressively more severe during childhood to incapacitation by age 10 years. After it was verified that he had a male sexual identity, reassignment as male began, initially by living as a boy, then with testosterone therapy. Staged phalloplasty surgery was begun at age 16 years. Currently he has an adult-sized penis, although its function is not yet clear. Sadly, none of the steps to align his sex assignment to his perception as male has significantly alleviated his psychological issues and he continues to be severely impaired and socially compromised. Major issues include the crippling psychiatric disease that is resistant to psychotherapy and surgical problems with phalloplasty after surgery at infancy that involved reduction of the phallus with recession of the glans to the typical clitoral location. The glans was left intact at the anterior base of the phallus. Genital responsiveness during sexual activity and satisfaction are as yet unknown.- - - - - - - - - - ranking = 0.5keywords = testis (Clic here for more details about this article) |
9/42. Unilateral gonadal dysgenesis with both testis and fallopian tube on the same side in a 45,X/46,X inv (Y) mosaic male.A 5-year-old male with ambiguous external genitalia, hypospadias and microphallus without an urethral orifice was referred for cytogenetic studies. Exploratory laparotomy revealed presence of an infantile uterus and unilateral gonadal dysgenesis with both testes and fallopian tube on the right side. The metaphase cells from peripheral blood culture showed both 45,X/46,X inverted Y (p11.2q11.23) cell-lines (98:2). The inverted Y was found to be of paternal origin. Maternal chromosomal pattern was normal 46,XX. The presence of a fallopian tube next to testis suggest absence of secretion of anti-mullerian hormone by sertoli cells. The absence of Wolffian duct derivatives suggest insufficient secretion of testosterone by leydig cells.- - - - - - - - - - ranking = 2.5keywords = testis (Clic here for more details about this article) |
10/42. Mixed gonadal dysgenesis. A review of 15 patients reporting single cases of malignant intratubular germ cell neoplasia of the testis, endometrial adenocarcinoma, and a complex vascular anomaly.The clinicopathologic features of 15 patients with mixed gonadal dysgenesis are presented with special regard to cardiovascular and neoplastic disease. Seven (47%) cases, all phenotypic females, had gonadal tumors: gonadoblastoma (5), germinoma (4), malignant intratubular germ cell neoplasia (1), and a unique gonadal stromal tumor (1). gonadoblastoma was found in 4 of 10 testes and 4 of 17 streak gonads, and associated with germinoma in 4 cases. One patient developed grade 1 endometrial adenocarcinoma after estrogen therapy. cardiovascular diseases (ie, bicuspid aortic valve, and a unique right aortic arch with a retroesophageal arch segment, aberrant left subclavian artery, coarctation, and dissection) are documented in our series. At the time of diagnosis of mixed gonadal dysgenesis, removal of streak gonads or testes will prevent further gonadal tumor development Cardiovascular examination may identify treatable and potentially lethal disease.- - - - - - - - - - ranking = 2keywords = testis (Clic here for more details about this article) |
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