1/58. life-threatening germ cell tumor arising in cryptorchidism: a case report.We report a case of life-threatening germ cell tumor in abdominal cryptorchidism. A 32-year-old man presented with a three-month history of dyspnea, loss of appetite, general weakness and a large abdominal mass. physical examination revealed vacancy of the right scrotal contents. Chest radiograph showed massive left pleural effusion. Abdominal ultrasound revealed ascites, right hydronephrosis and the presence of an 18 x 15-cm heterogeneous echogenic mass in the upper abdomen and right iliac fossa. Abdominal computerized tomography (CT) revealed the presence of a large heterogeneous tumor and an enlarged (4 x 4-cm) retroperitoneal lymph node. Sonoguided needle biopsy of the abdominal mass demonstrated malignant cells of an uncertain type and origin. serum alpha-fetoprotein (AFP) and beta-human chorionic gonadotropin (beta-HCG) concentrations were elevated. Under the diagnosis of metastatic nonseminomatous germ cell tumor in abdominal cryptorchidism, the patient received three cycles of cisplatin-based combination chemotherapy followed by resection of the abdominal residual cryptorchid tumor. Histologically, the tumor showed marked necrosis without viable cancer. The patient had remained free of disease for seven months following surgery.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
2/58. Fanconi's anemia with solitary crossed renal ectopia, vesicoureteric reflux, and genital abnormalities.Fanconi's anemia is an autosomal recessive disease, the main feature being pancytopenia secondary to bone-marrow hypoplasia. However, multiple congenital abnormalities may be encountered, urogenital malformations being common. We describe a patient with solitary crossed renal ectopia, vesicoureteric reflux, hypospadias, and unilateral undescended testis with absent vas deferens.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
3/58. neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34.neural tube defects (NTD) are common findings in the 13q deletion syndrome, but the relationship between the 13q- syndrome and NTDs is poorly understood. We present a child with a 13q deletion and lumbosacral myelomeningocele. This was a boy with microcephaly, telecanthus, minor facial anomalies, and ambiguous genitalia. Cytogenetic and fluorescence in situ hybridization analysis showed a de novo 46,XY,del(13)(q33.2-->qter) with no visible translocation. By using microsatellite markers, the deletion breakpoint was mapped to a 350-kb region between D13S274 and D13S1311 and was paternal in origin. An analysis of 13q deletions with NTDs, including the present case, suggests that a deletion in 13q33-34 is sufficient to cause an NTD. The deletions associated with NTDs are distal to and nonoverlapping with the previously defined critical region in 13q32 for the major malformation syndrome [Brown et al., 1999: Am J Hum Genet 57: 859-866]. Our analysis also suggests that one or more genes in 13q33-34 produces NTDs by haploinsufficiency.- - - - - - - - - - ranking = 20.345672613613keywords = tube (Clic here for more details about this article) |
4/58. Congenital hypopituitarism in a 48-year old adult. Natural course, hormonal study and MRI evidence.A case of Congenital hypopituitarism (CH) in an untreated 48 yr-old-man is reported. The hormonal studies demonstrated a panhypopituitarism and MR imaging revealed absence of pituitary stalk, small anterior pituitary remnant on the sella floor and ectopic neurohypophysis at the tuber cinereum. The pattern of hormonal responsiveness suggests that CH encompasses findings typical of primary anterior pituitary disease and those of hypothalamic dysfunction.- - - - - - - - - - ranking = 5.0691345227225keywords = tube, disease (Clic here for more details about this article) |
5/58. Extreme elevation of maternal serum alpha-fetoprotein associated with mosaic trisomy 8 in a liveborn.Constitutional mosaic trisomy 8 has been associated with syndromic dysmorphology, corneal opacities, leukemias, and trophoblastic disease. However, abnormal maternal serum alpha-fetoprotein (MSAFP) has not been reported in association with mosaic trisomy 8. Our case first presented for evaluation of an extremely elevated MSAFP with mild elevation of MShCG in an otherwise normal pregnancy: MSAFP 13.89 MoM, MShCG 3.57 MoM, and MSuE3 1.04 MoM. Fetal dysmorphism was limited to bilateral pyelectasis and a prominent third ventricle. Spontaneous labor at 38 weeks resulted in the birth of a 3,570-gram AGA male with APGARs 7(1)/8(5). The neonate had facial asymmetry, 5th finger clinodactyly, 2-3 toe syndactyly, undescended testicle, abnormal prepuce, and mild pyelectasis. CT scan revealed hypoplasia of the corpus callosum, while echocardiography demonstrated bicuspid aortic valve, and the neonatal karyotype (blood) returned 46,XY/47,XY 8. Evaluation at 3 months revealed more prominent facial asymmetry, plagiocephaly, plantar creases, descent of the testis, and mild developmental delay. review of the literature does not include any previously reported maternal serum alpha-fetoprotein aberrations in mosaic trisomy 8.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
6/58. Persistent mullerian duct syndrome with teratoma in an ectopic testis: imaging features.The persistent mullerian duct syndrome represents a rare form of male pseudohermaphroditism, secondary to mullerian inhibiting factor (MIF) deficiency. We describe imaging findings in a 30-year-old male (46 XY karyotype) with bilateral cryptorchidism and mullerian duct anomalies (presence of uterus and fallopian tubes). Grade-III teratoma with yolk sac tumour was detected in one of the undescended testis, lying in the pelvic cavity. The other testis was in the inguinal canal. The rest of the wolffian duct structures (e.g. prostate, seminal vesicles) were nearly normal. Very few reports of imaging findings of this entity have been published thus far, probably because of the rarity of entity, incidental detection of most of the cases at surgery and relatively asymptomatic clinical presentation.- - - - - - - - - - ranking = 798.11710460654keywords = fallopian tube, tube (Clic here for more details about this article) |
7/58. A novel mutation in the anti-mullerian hormone gene as cause of persistent mullerian duct syndrome.Persistent mullerian duct syndrome is a relatively rare inherited defect of sexual differentiation characterised by failure of regression of the mullerian ducts in males. In affected individuals, uterus and tubes are present because of defects of synthesis or action of anti-mullerian hormone (AMH), normally produced by the sertoli cells of the testis. patients are normally virilised, although mono- or bilateral cryptorchidism may be present. We observed two brothers (chromosomes 46 XY), aged 11 years and 2 months and 8 years and 3 months respectively, with bilateral cryptorchidism. The diagnosis of persistent mullerian duct syndrome was made on the basis of laparoscopic evidence of uterus and tubes, undetectable plasma levels of AMH and a 23 base pair duplicative insertion in exon 5 of the AMH gene, causing the introduction of a premature stop codon, homozygous in the two brothers. The surgical correction of the genital abnormalities was successfully carried out by laparoscopic orchidopexy according to Fowler-Stephens. CONCLUSION: Persistent mullerian duct syndrome should be taken into consideration in all cases of bilateral cryptorchidism. laparoscopy is the elective procedure for diagnosis of this disease and laparoscopic surgery for orchidopexy of intra-abdominal testes. mutation analysis of the anti-mullerian hormone gene in these patients helps to understand the structure-function relationship of the anti-mullerian hormone protein, although it is not clear at present whether anti-mullerian hormone is necessary to maintain normal testicular function.- - - - - - - - - - ranking = 9.1382690454451keywords = tube, disease (Clic here for more details about this article) |
8/58. First report of an isolated jejunal seminoma: presentation with melaena and iron deficiency anaemia.We present the case history of a man with isolated seminoma in the jejunum and abnormal testes but no provable malignant testicular disease. Treatment with cisplatin-based chemotherapy led to complete resolution of the jejunal seminoma. The rarity of seminoma involving the small bowel is highlighted. A literature search did not reveal other similar cases of isolated seminoma affecting the jejunum. The possible origins of this tumour are discussed.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
9/58. Postoperative hepatic laceration in a child with type 3 von Willebrand disease.We report an unusual postoperative complication (hepatic laceration) in a child with type 3 vWD, who has not received any prophylaxis.- - - - - - - - - - ranking = 4keywords = disease (Clic here for more details about this article) |
10/58. Persistent mullerian duct syndrome and prostate cancer.A localized Gleason score 6 (3 3) prostate cancer was found in a 56-year-old man with bilateral cryptorchidism. Radical laparoscopic prostatectomy was performed. However, at the beginning of the procedure, a uterus, two fallopian tubes, and two intra-abdominal gonads were endoscopically identified. The mullerian rests were excised and the gonads biopsied. The histologic examination showed testicular tissue. The association of prostate cancer and persistent mullerian duct syndrome to our knowledge has not previously been reported. Prostate cancer is an androgen-dependent neoplasm, and patients with male pseudohermaphroditism have poor androgen production that should provide protection against it.- - - - - - - - - - ranking = 798.11710460654keywords = fallopian tube, tube (Clic here for more details about this article) |
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