1/25. 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 = 1keywords = tube (Clic here for more details about this article) |
2/25. 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 = 0.2keywords = tube (Clic here for more details about this article) |
3/25. 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 = 44.045455874705keywords = fallopian tube, tube (Clic here for more details about this article) |
4/25. 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 = 0.4keywords = tube (Clic here for more details about this article) |
5/25. 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 = 44.045455874705keywords = fallopian tube, tube (Clic here for more details about this article) |
6/25. adenocarcinoma of persistent mullerian duct remnants: case report and differential diagnosis.Persistent mullerian duct syndrome is an unusual disorder characterized by cryptorchidism and retention of mullerian derivatives (uterus, fallopian tubes, and upper vagina). We report the case of a 39-year-old man with this syndrome in association with adenocarcinoma from the retained mullerian remnants of probable endocervical origin. To our knowledge, this is the first report of an endocervical adenocarcinoma associated with persistent mullerian duct syndrome.- - - - - - - - - - ranking = 44.045455874705keywords = fallopian tube, tube (Clic here for more details about this article) |
7/25. Persistent mullerian duct syndrome associated with irreducible inguinal hernia, bilateral cryptorchidism and testicular neoplasia: a case report.Persistent mullerian duct syndrome is a rare form of male pseudohermaphroditism. A case is reported of normal male appearance with bilateral cryptorchidism and a right irreducible inguinal hernia. On exploration, an uterus with two fallopian tubes and a testicle were found in the hernia sac. The uterus, fallopian tubes and left testicle were en bloc removed. Right orchidopexy and hernia repair were performed. In conclusion, if there is an adult bilateral cryptorchidism, surgeons should take into consideration a persistent mullerian duct syndrome.- - - - - - - - - - ranking = 88.09091174941keywords = fallopian tube, tube (Clic here for more details about this article) |
8/25. Familial persistent Mullerian duct syndrome.Two phenotypically normal pre-adolescent brothers with bilateral undescended testes were found to have bilateral fallopian tubes, a uterus and a vagina that drained into the prostatic utricle. We have documented this condition radiographically for the first time, gained some insight into the pattern of inheritance and made recommendations for surgical management.- - - - - - - - - - ranking = 44.045455874705keywords = fallopian tube, tube (Clic here for more details about this article) |
9/25. Persistent Mullerian structures in a genotypic male.A case report of a male with persistent Mullerian structures is presented. The patient was 34 yr old and had a left inguinal hernia, bilateral cryptorchidism and azoospermia. His karyotype was 46 XY. At operation a uterus with vestigial fallopian tubes and a hypoplastic testis were found inside the hernial sac. Histological studies confirmed the persistence of Mullerian structures. The clinical implications of anti-mullerian hormone dysfunction are discussed.- - - - - - - - - - ranking = 0.2keywords = tube (Clic here for more details about this article) |
10/25. cryptorchidism and persistence of Mullerian remnants in a normal male.A four-year-old boy was explored for bilateral cryptorchidism. Operation led to the discovery of two intraabdominal testes with their corresponding vasa, two fallopian tubes and a small uterus. No urological anomalies were found except for a vesico-ureteral reflux. Cystourethroscopy revealed a normal male tract. Sexual chromatine was negative and karyotype was 46, XY. A normal rise in testosterone serum level was recorded after stimulation with CGH. At operation both gonads could be placed extra-abdominally and the female internal structures were biopsied and left in place. This very unusual condition is derived from the absence of regression of Mullerian structures during fetal life due to a deficit in testicular secretion of anti-mullerian hormone. The current knowledge on this topic is updated.- - - - - - - - - - ranking = 0.2keywords = tube (Clic here for more details about this article) |
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