1/42. Severe mixed connective tissue disease in a woman with pure gonadal dysgenesis: estrogens do not influence disease expression.mixed connective tissue disease (MCTD) is more prevalent in women during the child bearing years, suggesting that estrogens may play a role in disease expression. We describe a woman who developed MCTD despite pure gonadal dysgenesis, i.e., a disease associated with permanently very low plasma levels of estrogens. The onset of MCTD and subsequent life threatening disease course over 15 years occurred while she declined exogenous hormonal replacement therapy. Concurrent presence of estrogens is not necessary for onset, persistence, or exacerbation of severe MCTD.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
2/42. gonadal dysgenesis and Rokitansky syndrome. A case report.BACKGROUND: Primary amenorrhea and lack of sexual development occur in gonadal dysgenesis due to missing ovaries. Primary amenorrhea with sexual development occurs in Rokitansky syndrome due to absence of the uterus, with normal ovarian function. The association of these two conditions has been previously described as a rare event. CASE: A 19-year-old woman presented with primary amenorrhea and lack of secondary sexual characteristics. physical examination confirmed the absence of mammary development and of pubic and axillary hair. Pelvic ultrasound disclosed absence of the uterus and ovaries. Gonadotropin serum levels were in the menopausal range, and the karyotype showed two mosaic cell lines, 45,X/46,Xdic(X). Scanning of a large number of cells by interphase fluorescence in situ hybridization showed 12% of cells with a dicentric x chromosome. Laparoscopic study confirmed the absence of the uterus and ovaries, with normal fallopian tubes. CONCLUSION: This patient had two anomalies affecting reproductive performance, gonadal dysgenesis and congenital absence of the uterus, the first associated with an abnormal karyotype; the second seems to have occurred coincidentally. At this time there is no treatment for the reproductive dysfunction.- - - - - - - - - - ranking = 162.92130696469keywords = fallopian tube, tube (Clic here for more details about this article) |
3/42. 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 = 162.92130696469keywords = fallopian tube, tube (Clic here for more details about this article) |
4/42. Gonadal agenesis 46,XX associated with the atypical form of Rokitansky syndrome.OBJECTIVE: To describe a patient with bilateral ovarian agenesis associated with the atypical form of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. DESIGN: Case report. SETTING: Unit of endocrinology, Fundacion Hospital Alcorcon. Madrid (spain). PATIENT: A 17-year-old woman who presented with primary amenorrhea and lack of mammary development. INTERVENTION(S): An endocrine study including pituitary, ovarian, adrenal, and thyroid evaluation was performed. Genetic study was done by karyotype and fluorescence in situ hybridization (FISH) analysis to detect the presence of y chromosome material. Bone study, intravenous urography, pelvic ultrasound, and laparoscopic study were ordered to evaluate the associated genitourinary and skeletal anomalies. MAIN OUTCOME MEASURE(S): Anatomic, endocrine, and genetic description of the patient. RESULT(S): The gynecologic examination showed a normal vagina ending in a blind pouch. The endocrine evaluation disclosed gonadotropin levels in the menopausal range and nonautoimmune subclinical primary hypothyroidism. The laparoscopic study revealed a single pelvic kidney and an absence of gonads, fallopian tubes, and uterus. The karyotype was 46,XX; no y chromosome was found in FISH analysis. CONCLUSION(S): To our knowledge, this is the first report of gonadal agenesis 46,XX associated with the atypical form of MRKH syndrome. The primary hypothyroidism may be coincidental.- - - - - - - - - - ranking = 162.92130696469keywords = fallopian tube, tube (Clic here for more details about this article) |
5/42. gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).keratosis follicularis spinulosa decalvans (KFSD) or Siemens-1 syndrome is a rare X-linked disease of unknown etiology affecting the skin and the eye. Although most affected families are compatible with X-linked inheritance, KFSD appears to be clinically and genetically heterogeneous. So far, the gene has been mapped to Xp22.13p22.2 in two extended KFSD families. Analysis of additional recombination events in the first Dutch pedigree located the gene to an interval covering approximately 1 Mb between markers DXS7163 and DXS7593/DXS7105, whereas haplotype reconstruction in the second German family positioned the gene outside the previously identified region, proximal to marker DXS274. We report here the molecular characterization of an Xp21.1p22.12 duplication present in a patient affected with dosage-sensitive sex reversal (DSS) and KFSD. The duplicated region includes both the DAX1 gene (previously demonstrated to be responsible for DSS) and the KFSD interval, in which the gene encoding spermidine/spermine N(1)-acetyltransferase ( SSAT) is located. This enzyme catalyzes the N(1)-acetylation of spermidine and spermine and, by the successive activity of polyamine oxidase, the spermine can be converted to spermidine and the spermidine to putrescine. Overexpression of the SSAT enzyme in a mouse model results in putrescine accumulation and a phenotype with skin and hair abnormalities reminiscent of human KFSD. Analysis of polyamine metabolism in the cells of the patient indicated that the levels of metabolites such as putrescine, spermidine and spermine were consistent with the overexpression of the SSAT gene as in the murine model. Thus, we propose that overexpression of SSAT and the consequent putrescine accumulation are involved in the KFSD phenotype, at least in our propositus.- - - - - - - - - - ranking = 0.083333333333333keywords = disease (Clic here for more details about this article) |
6/42. 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 = 163.00464029802keywords = fallopian tube, tube, disease (Clic here for more details about this article) |
7/42. gonadal dysgenesis: case report.A case of gonadal dysgenesis is reported in an 18 year old Ethiopian boy who had a normal scrotum, a single descended gonad which is cytologically proven to be streak (dysfunctional) with undescended left gonad, a hypoplastic phallus with hypospadias and genitogram showing vaginal canal, uterus and fallopian tubes.- - - - - - - - - - ranking = 162.92130696469keywords = fallopian tube, tube (Clic here for more details about this article) |
8/42. End-stage renal disease and primary hypogonadism associated with a 46,XX karyotype.OBJECTIVE--To determine the cause of absent sexual development in a 17-year-old girl with end-stage renal disease. DESIGN--Case study. PARTICIPANT--Seventeen-year-old girl with end-stage renal failure. INTERVENTIONS--None. MEASUREMENTS/MAIN RESULTS--The patient had phenotypically normal external female genitalia, mullerian duct hypoplasia, and no ovaries. Her serum gonadotropin levels were in the castrate range at baseline and after gonadotropin-releasing hormone stimulation. Her karyotype, in lymphocytes and cultured fibroblasts, was 46,XX. Analysis of genomic dna, following polymerase chain reaction-amplication with oligonucleotide primers corresponding to the Y-encoded zinc finger protein ZFY and the testis-determining SRY gene, showed y chromosome material in a male control but none in the patient. CONCLUSIONS--The results suggest a diagnosis of frasier syndrome, a disorder characterized by true gonadal dysgenesis and end-stage renal disease occurring in normal phenotypic girls. Although previously reported only in individuals with a 46,XX karyotype, our studies indicate that frasier syndrome may also occur in 46,XX girls. Delayed puberty is not uncommon in renal failure. This case illustrates the importance of measuring gonadotropin levels in teenage girls with delayed puberty and renal failure, particularly if the origin of the renal disease is obscure.- - - - - - - - - - ranking = 0.58333333333333keywords = disease (Clic here for more details about this article) |
9/42. Mayer-Rokitansky-Kuster-Hauser syndrome associated with unilateral gonadal agenesis. A case report.BACKGROUND: Mayer-Rokitansky-Kuster-Hauser syndrome is the second most frequent cause of primary amenorrhea, with a reported incidence of 0.002%. patients have a normal karyo-type and usually normal ovaries. Associated ovarian abnormalities are rarely reported. CASE: A 17-year-old woman with primary amenorrhea was evaluated by diagnostic laparoscopy, which showed complete mullerian agenesis. On the left side, the uterine tube and round ligament were hypoplastic, and the ovary was absent. The karyotype was 46, XX. Intravenous urography revealed a right kidney below the normal site with malrotation abnormality. CONCLUSION: Mullerian duct agenesis coexisting with unilateral ovarian agenesis and a contralateral renal abnormality has not been widely described before. Unilaterality might play a role in the etiologic factor of Mayer-Rokitansky-Kuster-Hauser syndrome.- - - - - - - - - - ranking = 0.64229964624035keywords = tube (Clic here for more details about this article) |
10/42. Right esophageal lung in a preterm child with VACTERL association and Mayer-Rokitansky-Kuster-Hauser syndrome.We report on a preterm girl (birth weight 1,200 g) with a right esophageal lung in esophageal atresia type VIag (according to the extended classification of Kluth). Additionally, the child suffered from an atrioseptal defect, a dextrocardia with a left descending aorta, a duodenal atresia, a high type of anal atresia (VACTERL association), agenesis of the left kidney, and agenesis of the vagina, uterus, and ovarian tubes (Mayer-Rokitansky-Kuster-Hauser syndrome or incomplete MURCS association). The child was treated with an emergency gastrostomy because of increasing abdominal dilatation. Thereafter, the parents refused further surgical treatment, and the child was maintained on basic therapy. After an uneventful period of 4 weeks, the child died of an acute massive aspiration. This case shows that sufficient spontaneous ventilation is possible in esophageal lung as long as a gastrostomy is kept on suction to prevent overinflation of the affected lung and the stomach. Ethical aspects have to be considered when treatment is planned in cases of prematurity and associated malformations when a chance of good survival is rather limited. The stepwise approach as proposed in the present case appears to be the only possible therapeutic regimen that can be offered in this complicated condition.- - - - - - - - - - ranking = 0.64229964624035keywords = tube (Clic here for more details about this article) |
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