1/31. Ultrastructural study of testis in testicular feminization.Testicular tissue was investigated by electron microscopy in a case of testicular feminization. The seminiferous tubules were lined by spermatogonia and by sertoli cells. Spermatocytic maturation was not observed. leydig cells were numerous and contained well developed, abundant vesicular smooth-surfaced endoplasmic reticulum and large mitochondria with tubulovesicular cristae. Reinke crystalloids were absent. The ultrastructural findings were consistent with the assumption that leydig cells were under adequate stimulation and were in a stage of active secretion. Hence, the results seem to indicate that testicular endocrine function was maintained in the studied case.- - - - - - - - - - ranking = 1keywords = testis (Clic here for more details about this article) |
2/31. 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 = 1.6228917387024E-5keywords = neoplasm (Clic here for more details about this article) |
3/31. A novel E153X point mutation in the androgen receptor gene in a patient with complete androgen insensitivity syndrome.AIM: To study a 46, XY newborn patient with a phenotype suggestive of an androgen insensitivity syndrome to confirm an anomaly in the AR gene. methods: Genomic dna from leukocytes was isolated in order to analyze SRY gene by PCR and sequencing of the eight exons of AR gene. Isolation of human Leydig cell mesenchymal precursors from the testis was performed in order to study testosterone production and response to hCG stimulation in culture. RESULTS: Surgical exploration disclosed two testes, no Wolffian structures and important Mullerian derivatives. The SRY gene was present in peripheral blood leukocytes. Sequencing of the AR gene evidenced a previously unreported G to T transversion in exon 1 that changed the normal glutamine 153 codon to a stop codon. Interstitial cell cultures produced sizable amounts of testosterone and were responsive to hCG stimulation. CONCLUSION: This E153X nonsense point mutation has not been described previously in cases of AIS, and could lead to the synthesis of a short truncated (153 vs 919 residues) non functional AR probably responsible for the phenotype of complete androgen insensitivity syndrome (CAIS).- - - - - - - - - - ranking = 0.25keywords = testis (Clic here for more details about this article) |
4/31. Simultaneous sertoli cell tumor and adenocarcinoma of the tunica vaginalis testis in a patient with testicular feminization.BACKGROUND: The association of testicular feminization with late diagnosis in a patient with a large sertoli cell tumor and a metastasizing adenocarcinoma of the tunica vaginalis testis is unusual. CASE: Testicular feminization was diagnosed in a 72-year-old patient, who was admitted with a large lower abdominal mass. Histologically, we found a well-differentiated sertoli cell tumor and an adenocarcinoma of the tunica vaginalis testis with metastases in the sigmoid colon, rectum, and omentum. Explorative laparotomy revealed a large pelvic tumor mass and extensive peritoneal carcinosis. After debulking surgery to optimal residual disease and four courses of chemotherapy (cisplatin and etoposide), there was no evidence of disease (clinically) for 24 months before an intraabdominal and inguinal relapse occurred. Due to the unwillingness of the patient to receive salvage chemotherapy or palliative abdominal surgery, the disease progressed rapidly and she died 27 months after the initial operation. CONCLUSION: This is the first reported case of an advanced carcinoma of the tunica vaginalis testis occurring simultaneously with a large sertoli cell tumor in a patient with testicular feminization. Surgical debulking and platinum-based chemotherapy rendered the patient clinically free of disease for 2 years.- - - - - - - - - - ranking = 1.75keywords = testis (Clic here for more details about this article) |
5/31. Irreducible inguinal hernia, bowel obstruction, and torsion of testis in a patient with testicular feminization syndrome.Testicular feminization syndrome, irreducible inguinal hernia, bowel obstruction, and testicular torsion were diagnosed and treated in a 13-year-old girl. diagnosis of this case in such a complex form in an emergency room is a rare occurrence. Through this case, we want to emphasize the coincidence of inguinal hernia and testicular feminization and the X-linked recessive transmission character of the disease.- - - - - - - - - - ranking = 1keywords = testis (Clic here for more details about this article) |
6/31. PET imaging of sertoli cell tumor in androgen insensitivity syndrome.The author presents a case of sertoli cell tumor demonstrated incidentally by F-18 fluorodeoxyglucose positron emission tomography during imaging workup for suspected right-lung malignant neoplasm. This rare sex cord stromal tumor arose from the right gonad of a patient with a history of androgen insufficiency syndrome, also known as testicular feminization syndrome. The relationship of this phenotypic sexual disorder with sertoli cell tumor is briefly reviewed and discussed.- - - - - - - - - - ranking = 1.6228917387024E-5keywords = neoplasm (Clic here for more details about this article) |
7/31. Distributional map of the terminal and sub-terminal sugar residues of the glycoconjugates in the prepubertal and postpubertal testis of a subject affected by complete androgen insensitivity syndrome (Morris's syndrome): lectin histochemical study.In the present research we have investigated the distribution of the sugar residues of the glycoconjugates in the prepubertal and postpubertal testes of a subject with Morris's syndrome (CAIS, Complete Androgen Insensitivity Syndrome). For this purpose a battery of six horseradish peroxidase-conjugated lectins was used (SBA, PNA, WGA, ConA, LTA and UEAI). We have obtained a complete distributional map of the terminal and sub-terminal oligosaccharides in the tunica albuginea, interstitial tissue, lamina propria of the seminiferous tubules, leydig cells, sertoli cells, spermatogonia, mastocytes and endothelial cells. Furthermore the present study has shown that a large amount of sugar residues were detectable in the prepubertal and postpubertal testes but that some differences exist with particular regard to the sertoli cells. The sertoli cells and the leydig cells of the retained prepubertal testis of the patient affected by Morris's syndrome were characterized by the presence of alpha-L-fucose, which was absent in the retained prepubertal testis of the normal subjects. Comparing the results on the postpubertal testis with those obtained on the same aged testis of healthy subjects we have demonstrated that alpha-L-fucose in the Sertoli and leydig cells and D-galactose-N-acetyl-D-galactosamine in the leydig cells are a unique feature of the subject affected by Morris's syndrome. D-galactose (ss1,3)-N-acetyl-D-galactosamine and sialic acid, which are present in the leydig cells of the normal testis were never observed in the same cells of the postpubertal testis of the CAIS patient.- - - - - - - - - - ranking = 2.5keywords = testis (Clic here for more details about this article) |
8/31. Bilateral sertoli cell adenoma and serous cyst in a patient with androgen insensitivity syndrome.Thirty-year-old woman with lower abdominal pain was operated due to adnexial mass. cystectomy on right gonad revealed sertoli cell adenoma and simple serous cyst and left gonadal biopsy showed immature testis tissue. Later, laparoscopic left gonadectomy was made. Histopathology of the left gonad was consistent with sertoli cell adenoma.- - - - - - - - - - ranking = 0.25keywords = testis (Clic here for more details about this article) |
9/31. leydig cell tumor in an elderly patient with complete androgen insensitivity syndrome.BACKGROUND: Androgen insensitivity syndrome (AIS) is usually diagnosed in phenotypically female patients at puberty with primary amenorrhea. Testicular tumors often develop in patients with AIS, sertoli cell tumor and seminoma being the most common types. leydig cell tumor in AIS is extremely rare. CASE: A large abdominal tumor developed in a 73-year-old female patient. physical examination and cytogenetic analysis revealed that the patient was with complete AIS. The patient underwent the extirpation of bilateral gonads including the tumor, pelvic lymph nodes, omentum and appendix vermiformis. The pathological diagnosis was malignant leydig cell tumor of the left testis. There was no invasion or dissemination grossly and histologically. There was no adjuvant radiation or chemotherapy performed. The post-operative course was uneventful. The patient showed no evidence of disease at the post-operative 1 month checkup. CONCLUSION: We reported an extremely rare case of malignant leydig cell tumor developing in an elderly AIS patient.- - - - - - - - - - ranking = 0.25keywords = testis (Clic here for more details about this article) |
10/31. 47,XXY female with testicular feminization and positive SRY: a case report.BACKGROUND: Males with a 47,XXY karyotype have the clinical phenotype of klinefelter syndrome. A few 47,XXY cases with a female phenotype have been reported. These individuals have positive SRY (testis-determining factor). The genetic explanation of this phenomenon is unclear. CASE: A 34-year-old woman presented with testicular feminization and a 47,XXY karyotype. cytogenetic analysis and fluorescence in situ hybridization suggested that the y chromosome had a normal structure; the polymerase chain reaction was positive for SRY. CONCLUSION: This is the third reported case of 47,XXY with afemale phenotype in spite of the presence of a y chromosome and the normal SRY. This suggests that the phenotypic sex in these patients might be due to the involvement of other sex-determining genes.- - - - - - - - - - ranking = 0.25keywords = testis (Clic here for more details about this article) |
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