1/10. hernia uterus inguinale in a 46,XX female. A case report.BACKGROUND: hernia uterus inguinale, a rare congenital anomaly, is usually found in hermophrodites. CASE: A case of lateral fusion defect associated with mullerian duct development in a young woman with primary amenorrhea and normal karyotype occurred. In our patient, bilateral mullerian duct systems were rudimentary and failed to fuse in the midline. The left horn of the uterus and ipsilateral ovary lay in the left inguinal canal. The right horn of the uterus, along with the tube and ovary, was intraabdominal. CONCLUSION: In the operative management of this rare anomaly, care must be taken to preserve and reposition the ovary in the abdominal cavity.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/10. A case of ambiguous genitalia presenting with a 45,X/46,Xr(Y)(p11.2;q11.23)/47,X,idic(Y)(p11.2),idic(Y)(p11.2) karyotype.An infant with ambiguous genitalia was found to have a karyotype 45,X/46,X,r(Y)(p11.2;q11.23)/47,X,idic(Y)(p11.2),idic(Y)(p11.2) using G-banding, C-banding and FISH. Examination of the genitalia revealed a phallus measuring 1.5 cm in length and 0.5 cm wide with perineal orifice. Subtle phenotypic features consistent with turner syndrome were not present. Genital ultrasonography revealed the presence of an infantile uterus. endoscopy of the vagina, uterus and cervix appeared normal.- - - - - - - - - - ranking = 5keywords = karyotype (Clic here for more details about this article) |
3/10. Monozygotic twins of discordant sex both with 45,X/46,X,idic(Y) mosaicism.A female twin with short stature, unusual facial appearance, widely spaced nipples, and coarctation of the aorta was found to have a peripheral blood lymphocyte karyotype of 45,X(43%)/46,X,idic(Y)(p11). Her twin brother, also short with similar facial appearance, had the same mosaicism (40% 45,X). Cultured skin fibroblast studies showed discrepant karyotypes of 45,X (100%) in the girl and 45,X (78%)/46,X,idic(Y)(p11) in the boy. The mother and the father had normal chromosomes. Comparison of 27 biochemical markers yielded a likelihood of monozygosity of 0.9977. This report documents the occurrence of discordant phenotypic sex in monozygotic twins, involving gonadal dysgenesis with an abnormal dicentric Y, which presumably occurred de novo, followed by anaphase lag probably before the occurrence of twinning. Unequal distribution of the two resultant cell lines in various tissues of each twin could account for the development of the very different phenotypes, apparently normal boy and Ullrich-Turner girl.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
4/10. Dicentric y chromosome and mixed dysgenesis.We report 4 cases of mixed gonadal dysgenesis with a karyotype containing a dicentric y chromosome. All cases were mosaic with 45X and 46X, dic(Y) cell lines. Of the patients 1 had ambiguous genitalia and some features of Turner's syndrome, 2 had classical features of Turner's syndrome with normal female external genitalia and 1 had no features of Turner's syndrome but he presented with penoscrotal hypospadias, inguinal hernia and cryptorchidism. female gender assignment and early total gonadectomy should be considered when a dicentric y chromosome is present in cases of mixed gonadal dysgenesis.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
5/10. Ovarian and tubal inguinal hernia.An inguinal hernia containing an ovary and fallopian tube is an extremely rare occurrence in a woman of reproductive age. When ovarian and fallopian tube inguinal hernias are found, they are commonly associated with defects in genital tract development. In this report a woman with primary amenorrhea, 46XX karyotype, mullerian agenesis, and an inguinal hernia consisting of an ovary and a fallopian tube is presented. The defect in embryologic development that leads to this disorder and a review of previous reports of ovarian and tubal inguinal hernias are discussed.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
6/10. 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 = 1keywords = karyotype (Clic here for more details about this article) |
7/10. 49,XYYYY. A case report.A 14-month-old boy with a 49,XYYYY karyotype is reported. The physical examination revealed unusual facial features, brachydactyly with clinodactyly, limitation of supination at the left elbow, and inguinal hernia. Radiological abnormalities of the skeleton and urinary tract were present, and the developmental examination showed a DQ of 70.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
8/10. Familial pericentric inversion of chromosome 13, 46,XX,inv (13)(p13;q11): a new variant.A 10-year-old female with right oblique inguinal hernia was investigated to exclude an XY karyotype. Chromosome analysis of peripheral blood showed 46,XX,inv(13)(p13;q11). in vitro aneuploidy was observed in two cells: a) 46,XX,inv(13), inv(13); b) 47,XX, inv(13). Her father and three sisters were carriers for inv(13). Herein the authors review briefly familial inv(13)'s and report a new variant involving breakpoints (p13;q11).- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
9/10. Serpentine fibula syndrome: expansion of the phenotype with three affected siblings.We describe three siblings, one of whom has serpentine fibula syndrome (SFS) and has many facial and skeletal features in common with two deceased brothers, making it highly likely that they too had the condition. The karyotype of one of the deceased males was 47,XXY. These are the first affected sibs with SFS, and the first affected males. They all have other abnormalities which have not previously been described as part of the condition, namely congenital heart disease, inguinal herniae (two sibs), intestinal malrotation (two sibs) and coloboma (one sib). Facially they resemble the cases described by ter Haar et al. (1983), who also had congenital heart disease and a skeletal dysplasia though did not have the characteristic bowing of the fibulae. There are also features in common with Hadju-Cheney syndrome.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
10/10. Testicular feminization syndrome diagnosed in an elderly patient at surgery. A case report.A case of Morris' syndrome in which the diagnosis has been realized only in old age is reported. A 69 year-old patient, with female external genitalia and secondary sexual characteristics, was referred to us with a diagnosis of a mass in the right inguinal region. Her personal history was based on a primary amenorrhoea, which was unsuccessfully investigated since she was adolescent. At the age of 63, during surgery for a left inguinal hernia realized in another hospital, a testis-like mass with the spermatic cord was casually found. During our hospitalization, a surgical removal of the right inguinal mass was performed, and the histologic examination showed the presence of a dominant sclerohyalin testicular tissue without evidence of seminal epithelium and sparse focuses of leydig cells hyperplasia. Besides, the determination of gonadotropins and sex hormones yielded an increased production of LH, FSH, estradiol, testosterone and androstenedione. A cytogenetic analysis showed a 46, XY karyotype. The diagnosis realized only in old age has compelled the patient to live all her life, from sexual maturity, with indecision and doubt, and without a clinical explanation of fundamental utility even from the psychological point of view. Finally, in our patient the absence of cytologic aspect of malignant transformation in the removed testes in a six years period, seem fortuitous. It is always necessary to consider Morris' syndrome among the possible diseases causing primary amenorrhoea in the clinical evaluation of young phenotypic female patients.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
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