1/9. Familial mullerian agenesis.Mullerian agenesis is characterized by the absence of the fallopian tubes, uterus and internal portion of the vagina. patients have normal female phenotype and genotype, with normal secondary sex characteristics but with amenorrhea. We report a family in which mullerian agenesis was diagnosed in three siblings and their two paternal aunts. This family was ascertained when the proband was evaluated for primary amenorrhea. She had normal secondary sexual development. Her karyotype was 46, XX. Ultrasound examination and magnetic resonance imaging of the pelvis revealed absence of the uterus and vagina. The proband had three sisters and two of them showed similar physical and radiological findings. Two of the proband's paternal aunts had no uterus. Although the pathogenesis of mullerian agenesis is well understood, the etiology and genetics are still unknown. Various forms of inheritance patterns have been suggested by several authors. In conclusion, it would appear that mullerian agenesis is influenced by multifactorial inheritance and polygenic and familial factors.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/9. Coexistence of gonadal dysgenesis and Mullerian agenesis with two mosaic cell lines 45,X/46,X,del(X)(p22.2).gonadal dysgenesis and Mullerian agenesis both are common causes of primary amenorrhea. Coexistence of gonadal dysgenesis and Mullerian agenesis has been previously described as a rare event. The karyotypes, 45,XO,45,X/46,XX,45,X/46,X,dic(X),46,XX, and 46,XY, have been reported in the literature. A 22-year-old woman presented with primary amenorrhea and normal intelligence. Her physical examination confirmed the absence of breast development and axillary hair. The woman weighed 43 kg and was 150 cm tall. scoliosis of the thoracic spine was noted on a chest x-ray film. Also, her pelvic examination revealed a vaginal introitus with a vaginal depth of 7 cm, measured by sounding. Her external genitalia were female but lacked pubic hair. The rectal examination failed to reveal a uterus. Pelvic ultrasound disclosed the absence of uterus and ovaries, and her serum gonadotropin levels were in the menopausal range (FSH, 118.59 IU/L; LH, 38.94 IU/L). estradiol was less than 10 pg/ml. Two mosaic cell lines, 45,X (50%) and 46,X,del(X)(p22.2X50%), were found in the chromosomal study. Laparoscopic evaluation confirmed the absence of uterus and ovaries with normal fallopian tubes. Coexistence of gonadal dysgenesis and Mullerian agenesis is a rare event. The two mosaic cell lines 45,X/46,X,del(X)(p22.2) in this combination have not been reported before. In patients with this condition, estrogen will initiate and sustain maturation and function of secondary sexual characteristics, and lifelong hormone therapy will protect against osteoporosis and cardiovascular disease.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/9. Determination of the sexual phenotype in a child with 45,X/46,X,Idic(Yp) mosaicism: importance of the relative proportion of the 45,X line in gonadal tissue.We report on a girl who, despite her 45,X/46,X,der(Y) karyotype, showed no signs of virilization or physical signs of the Ullrich-turner syndrome (UTS), except for a reduced growth rate. After prophylactic gonadectomy due to the risk of developing gonadoblastoma, the gonads and peripheral blood samples were analyzed by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) to detect Y-specific sequences. These analyses allowed us to characterize the Y-derived chromosome as being an isodicentric Yp chromosome (idic(Yp)) and showed a pronounced difference in the distribution of the 45,X/46,X,idic(Yp) mosaicism between the two analyzed tissues. It was shown that, although in peripheral blood almost all cells (97.5%) belonged to the idic(Yp) line with a duplicated SRY gene, this did not determine any degree of male sexual differentiation in the patient, as in the gonads the predominant cell line was 45,X (60%).- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/9. 46,XX gonadal dysgenesis with epibulbar dermoid.Pure gonadal dysgenesis with 46,XX genotype is a rare abnormality with unknown etiology. Although sensorineural deafness has been described with 46,XX gonadal dysgenesis, the majority of reported cases of 46,XX gonadal dysgenesis have no associated physical abnormalities. We report a patient with 46,XX gonadal dysgenesis associated with epibulbar dermoids and preauricular skin tags, the classic ocular and skin manifestations of Goldenhar sequence (oculoauricular vertebral dysplasia). We propose that our patient may represent a new and previously unreported syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/9. Primary amenorrhoea in a triple X female.The incidence of trisomy X in the newborn population is estimated to be 1 in 1,000 liveborn females. Most of them have normal physical appearance and puberty. Therefore, the reported number of triple X females in the literature is low. We herein report one patient with triple X chromosomes, primary amenorrhoea and normal intelligence. Steroid hormonal levels, clinical and ultrasound findings were suggestive of ovarian failure/gonadal dysgenesis. This case emphasizes the need for chromosomal analysis in women presenting with premature ovarian failure leading to primary or secondary amenorrhoea.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/9. gonadal dysgenesis in a 46,XY female mosaic for double autosomal trisomies 8 and 21.The proband was evaluated at 19 years of age because of primary amenorrhoea and, on chromosomal analysis, was found to have a 46,XY karyotype in 75% of her cells and 48,XY, 8, 21 in 25% of her cells. She appeared normal at birth and exhibited normal intellectual and physical development until puberty when secondary sexual differentiation failed. This young women showed none of the dysmorphic features associated with either trisomy 8 or trisomy 21. Her XY gonadal dysgenesis was manifested by late developmental problems of amenorrhoea, sexual infantilism, and gonadal neoplasia.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/9. gonadal dysgenesis, intra-x chromosome insertion, and possible position effect in an otherwise normal female.A 16-year-old female was referred for cytogenetic evaluation because of primary amenorrhea. growth, mental development, and physical examination, including secondary sexual characteristics, were normal. cytogenetic analysis revealed one x chromosome to be consistently more metacentric than the other. Measurements indicted no significant differences between the two X's, but in the abnormal X, the increase in length of the short arm matched the decrease in length of the long arm. Banding studies suggest that region q22 through q24 of the abnormal X is inserted into region p11 of the same chromosome. Endocrine studies were indicative of gonadal dysgenesis. Since no loss of x chromosome material is involved, this patient's gonadal dysgenesis is most likely related to position effect.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/9. Pure gonadal dysgenesis in a triple-x female.A tall 15 1/2-year-old-girl with an xxx sex chromosome complement, absence of secondary sexual characteristics and histologically verified pure gonadal dysgenesis is described. In contrast to patients with an xxy sex chromosome configuration who--after puberty--are recognisable by typical somatic abnormalities, triple-x females generally show no physical anomalies. speech and language problems can be features of the triple-x condition; ovarian dysfunction in triple-x females has been described only sporadically. Probably one patient is the second case described having this chromosomal aberration combined with pure gonadal dysgenesis. The presence of three x chromosomes (and thereby possibly extra growth determinants) could be the reason for the extra growth potential in these patients. This contrasts with the reduced growth in patients with the xo sex chromosome configuration who tend to remain small.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/9. A case of mixed gonadal dysgenesis with 45 X/46 XY karyotype and aortic coarctation.We report a case of mixed gonadal dysgenesis with 45 X/46 XY karyotype and aortic coarctation. An eight month-old patient was admitted to our endocrinology department for evaluation of ambiguous genitalia. On physical examination, a wide neck with a low posterior hairline, bifid scrotum, small phallus, testis in the right labioscrotal fold, single orifice and typical findings of aortic coarctation were present. The chromosome karyotype of the patient was 45 X/46 XY. On the laparotomy there was an infantile uterus, fallopian tubes, and a streak gonad on the left. The follow-up of the patient included sex assignment, genital reconstruction and cardiovascular treatment.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |