1/35. 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 = 1keywords = uterus (Clic here for more details about this article) |
2/35. 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 = 1.75keywords = uterus (Clic here for more details about this article) |
3/35. 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 = 0.75keywords = uterus (Clic here for more details about this article) |
4/35. Intravesical Lippes loop following insertion for the treatment of Asherman's syndrome: a case report.A case report of a 36-year-old Para 6 0 (1 alive) civil servant who developed Asherman's syndrome following repair of ruptured uterus is presented. She had adhesiolysis and insertion of Lippes loop. She defaulted 3 months after presentation and was seen 1 year after with intravesical translocation of the IUCD. This was successfully removed using a forward biting bladder biopsy forceps under direct cystoscopic view.- - - - - - - - - - ranking = 0.25keywords = uterus (Clic here for more details about this article) |
5/35. Turner's syndrome mosaicism 45X/47XXX: an interesting natural history.mosaicism 45X/47XXX is a sporadic form of ovarian dysgenesis. Many of the cases previously described were characterized by a variable phenotype expression. We here report the case of a 33-yr-old woman with recent secondary amenorrhea, weight loss and breast regression. Her menarche had occurred at the age of 11 yr and 6 months and her menstrual cycles had been regular until the age of 28; then, oligomenorrhea and hypertricosis developed. A pelvic ultrasound showed enlarged polycystic-like ovaries and normal uterus. She was treated with ethynil-estradiol and cyproterone acetate for one year. At the age of 31 yr, she underwent a pelvic ultrasound--which revealed normal volume of the ovaries--and hormonal assays including FSH (69 UI/l), LH (113 UI/l), 17beta-estradiol (88 pg/ml), plasma androgens and cortisol levels within normal ranges. No organ-specific autoantibodies toward ovaries, steroid-producing cells or adrenals were found. At the age of 33 yr, there was ultrasound evidence of streak-like ovaries. The patient's height was 145 cm and her weight 45 kg. She had normal female external genitalia, abnormal upper-to-lower body segment ratio, webbed neck, low posterior hair line, cubitus valgus, short and asymmetrical 4th metacarpi, hallux with lateral deviation and moderate scoliosis. No increase in ovarian steroids were found after GnRH-analogue triptorelin (0,1 mg sc) administration. The karyotype analysis on peripheral blood lymphocytes showed a mosaic 45X (90% cells) and 47XXX (10% cells). Diagnostic pelviscopy confirmed streak gonads. Chronic lymphocytic thyroiditis was diagnosed but no cardiovascular or kidney abnormalities were found. A neuro-psychological evaluation revealed emotional and social immaturity, disorders in motorial coordination, visual-spatial organization, as well as reading difficulties and impaired complex phrase construction. The presence of several somatic features of Turner's syndrome, neuro-psychological disorders and an interesting natural history probably depended on the quantitative proportion of 45X to 47XXX cell-lines in different tissues and organs. Estrogen and progestin replacement therapy led to weight gain, re-appearance of secondary sexual characteristics and a mild improvement in mental equilibrium.- - - - - - - - - - ranking = 0.25keywords = uterus (Clic here for more details about this article) |
6/35. 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 = 0.25keywords = uterus (Clic here for more details about this article) |
7/35. Ovarian dysgenesis with balanced autosomal translocation.Autosomal translocations are rare in the patients with ovarian dysgenesis. An 18-year-old female who presented with primary amenorrhoea had hypergonadotropic hypogonadism and streak ovaries with hypoplastic uterus. Karyotype analysis revealed a balanced autosomal translocation involving chromosomes 1 and 11. The probable role of autosomal translocations in ovarian dysgenesis has been discussed.- - - - - - - - - - ranking = 0.25keywords = uterus (Clic here for more details about this article) |
8/35. Del Castello syndrome--an unusual presentation.Del Castello syndrome in a 28-year-old female, characterised by bilateral galactorrhoea, amenorrhoea and hyperinvoluted uterus, has been described. She had hyperprolactinaemia without any demonstrable pituitary tumour. She was successfully treated with two short courses of bromocriptine and was spontaneously cured after her second conception. The case is discussed with a brief review of the literature.- - - - - - - - - - ranking = 0.25keywords = uterus (Clic here for more details about this article) |
9/35. A case of gonadal dysgenesis, breast development, Graves' disease, and low bone mass.OBJECTIVE: To describe a case of XY gonadal dysgenesis with Tanner stage 4 breast development in the absence of a hormone-producing gonadal neoplasm and with Graves' disease and low bone mass. methods: The clinical features, laboratory results, and cytogenetic findings in the patient are presented, and the potential mechanisms of breast development are discussed. A medline search was performed, and related articles in the English-language literature published between 1955 and 2001 were reviewed. RESULTS: A 23-year-old African American woman was referred to the University of Louisville Hospital for evaluation of hyperthyroidism. About 4 months before this referral, hyperthyroidism was diagnosed, and treatment with methimazole was initiated. She continued to have thyrotoxicosis. Additionally, systemic review disclosed a history of primary amenorrhea. physical examination revealed a tall phenotypic female patient with Tanner stage 4 breast development. Pelvic examination showed normal findings except for sparse pubic hair. Laboratory evaluation confirmed the diagnosis of Graves' disease as well as primary gonadal failure. Pelvic ultrasonography revealed a small uterus and bilateral adnexal masses (0.9 by 0.6 cm). On chromosomal analysis, a 46,XY karyotype was found. Further analysis of Y-dna by polymerase chain reaction confirmed the presence of an intact y chromosome, and no microdeletions were identified. Dual-energy x-ray absorptiometry demonstrated a Z-score of -4.7 and -4.2 at the lumbar spine and right hip, respectively. Graves' disease was successfully treated with (131)I. laparoscopy was performed to resect streak gonads. On histologic examination, no typical ovarian, testicular, or neoplastic tissue was identified. The breast development in this patient remains unexplained. CONCLUSION: To the best of our knowledge, this is the first case report of a tall XY female patient with breast development in the absence of a hormone-producing gonadal neoplasm and without clearly identifiable gonads. breast development was most likely related to estrogens, possibly produced by either streak gonads at the time of puberty or peripheral conversion of androgens, or to increased sensitivity of breast tissue to estrogens. Graves' disease is likely coincidental and could contribute to bone loss in such subjects.- - - - - - - - - - ranking = 0.25keywords = uterus (Clic here for more details about this article) |
10/35. risk of malignancy in bilateral streak gonads: the role of the y chromosome.Although girls with Turner's syndrome (45,X) are not at risk for malignancy, patients with feminizing testicular syndrome with XY chromosome composition and patients with "mixed gonadal dysgenesis" are at risk for malignancy, and bilateral gonadectomy is performed. We have treated seven girls with "Turner-like" syndrome, who we believe are also "at risk" for development of malignancy and in whom gonadectomy should be performed. We present seven cases of phenotypically typical females, without sexual ambiguity, who presented with primary amenorrhea and short stature (5) and/or minor dysmorphic features (2). Chromosome analysis showed 45,X karyotype plus a fragment that we could not rule out as being part of a y chromosome (in one patient a complete y chromosome). In two patients, the fragment was subsequently positively identified as a Y, using a dna probe. In view of the known high incidence of development of gonadoblastoma in the dysgenetic gonads of phenotypic females with a y chromosome, bilateral gonadectomy was performed in these girls. Bilateral genital streaks with normal uterus and fallopian tubes were found in all patients. In two patients unsuspected gonadoblastoma, without metastases, was found. In five cases, Leydig cells and tubular structures resembling rete testes were found, cells that are associated with Y-chromosomal tissue. We stress the need for complete chromosomal evaluation of phenotypically female patients with primary amenorrhea or features of Turner's syndrome. If a y chromosome or the possibility of a y chromosome cannot be excluded, gonadectomy should be performed because of the risk of malignancy.- - - - - - - - - - ranking = 0.25keywords = uterus (Clic here for more details about this article) |
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