1/16. 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) |
2/16. craniopharyngioma and bardet-biedl syndrome. A case report.BACKGROUND: bardet-biedl syndrome is a rare disorder and associated with a variety of anomalies. CASE: An 18-year-old woman was referred with primary amenorrhea. Following physical, ophthalmologic, psychiatric, hormonal and radiologic examinations, the diagnosis of both craniopharyngioma and bardet-biedl syndrome was established. CONCLUSION: Although the pathogenesis of hypogonadism in a woman with bardet-biedl syndrome remains unclear, cranial structures, especially the hypothalamus and pituitary gland, should be investigated to reveal any possible abnormalities.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/16. Diagnostic role of inhibin B in resistant ovary syndrome associated with secondary amenorrhea.To report two rare cases of gonadotropin-resistant ovary syndrome associated with secondary amenorrhea and normal levels of inhibin B.Case report.Two university teaching hospitals.Two women presenting with secondary amenorrhea and infertility. The control group for the inhibin B levels consisted of 30 cycling women of reproductive age.Medical history, physical examination, laboratory data, histologic findings, and IVF results.diagnosis and treatment of resistant ovary syndrome.Case 1 was a 25-year-old woman with secondary amenorrhea and primary infertility. She had high serum levels of FSH and LH, low E(2) levels, and normal inhibin B levels (62 pg/mL). karyotype was 46,XX, and ovarian biopsy showed primordial follicles with oocytes. Administration of GnRH analogue with hMG for 15 days did not affect E(2) levels. She had a successful pregnancy with IVF using donor oocytes. Case 2 was a 24-year-old woman with secondary amenorrhea. She had elevated serum levels of FSH and LH, low E(2) levels, and normal inhibin B levels (57 pg/mL). karyotype was 46,XX and ovarian biopsy showed primordial follicles. Administration of GnRH analogue with hMG for 12 days did not affect E(2) levels. Both women were given estrogen-progestin replacement therapy.Inhibin B has a diagnostic role in women with gonadotropin-resistant ovary syndrome associated with secondary amenorrhea. A review of the literature confirms the uniqueness of the diagnostic role of inhibin B in these cases.- - - - - - - - - - ranking = 9.8402438663531keywords = physical examination, physical (Clic here for more details about this article) |
4/16. 24-year-old female with amenorhea: bilateral primary ovarian burkitt lymphoma.OBJECTIVES: Burkitt's lymphoma (BL) occurs mostly in children. Isolated bilateral ovarian involvement presenting with amenorrhea is extremely rare in young adults. CASE: A 24-year-old female presented with secondary amenorrhea. Bilateral adnexal masses were identified on physical examination and abdominal computed tomography (CT). She underwent total abdominal histerectomy and bilateral salpingoophorectomy. Histopathologic evaluation yielded a diagnosis of BL of ovaries. Combined chemotherapy was administered. After complete remission an autologous bone marrow transplantation (ABMT) was performed. She died 35 days after ABMT. CONCLUSIONS: Although rare, BL should be kept in mind when isolated ovarian tumors are detected in young patients.- - - - - - - - - - ranking = 9.8402438663531keywords = physical examination, physical (Clic here for more details about this article) |
5/16. thalidomide-induced amenorrhea: case report and literature review.OBJECTIVE: To report on a patient with thalidomide-induced amenorrhea and review the literature on the effect of thalidomide on ovarian function. DESIGN: Case report and literature review. SETTING: University medical center. PATIENT(S): A twenty-eight-year-old woman referred for a 2-year history of amenorrhea. INTERVENTION(S): history, physical examination, laboratory evaluation of the patient, and subsequent medical therapy. literature review performed by using OVID/medline and pubmed search strategies. MAIN OUTCOME MEASURE(S): diagnosis and appropriate management of thalidomide-induced amenorrhea. RESULT(S): Elevated pituitary gonadotropins, other labs normal. All known causes of hypergonadotropic amenorrhea were excluded. CONCLUSION(S): thalidomide induces hypergonadotropic amenorrhea. Although this effect appears to be reversible, the long-term effect of thalidomide on ovarian reserve is unclear.- - - - - - - - - - ranking = 9.8402438663531keywords = physical examination, physical (Clic here for more details about this article) |
6/16. Mayer-Rokitansky-Kuster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome.OBJECTIVE: To describe the association of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome and thrombocytopenia-absent radius (TAR) syndrome. DESIGN: Descriptive case report. SETTING: Tertiary university-affiliated care and referral facility. PATIENT(S): A 22-year-old woman with TAR syndrome referred to our department with primary amenorrhea. INTERVENTION(S): Patient history, physical and laboratory examination, diagnostic laparoscopy, and karyotyping. MAIN OUTCOME MEASURE(S): Physical features in the combination of syndromes presented. RESULT(S): laparoscopy revealed absent uterus and complete vaginal agenesis. CONCLUSION(S): This extremely rare case might provide further evidence of a link between the development of the skeletal system and the genitourinary tract.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/16. Swyer syndrome with SRY y chromosome and rudimentary internal genitalia demonstrating temporary action of antimullerian hormone in utero: a case report.BACKGROUND: XY gonadal dysgenesis is characterized by streak gonads in phenotypic females without somatic abnormalities. This case demonstrated a hypoplastic uterus, an unlikely finding for the syndrome, suggesting insufficient function of antimullerian hormone prenatally. CASE: A 20-year-old, female virgin was first seen 2 years earlier complaining of primary amenorrhea. She was 168 cm tall, and secondary sexual characteristics, such as breast development and pubic and axillary hair, were absent on physical examination. Chromosome analysis with fluorescence in situ hybridization revealed 46,XY, and a molecular investigation was undertaken to assess the possibility of a mutation in SRY through dna sequencing. SRY mutations were absent. Bilateral laparoscopic removal of dysgenetic gonads was performed at another medical center immediately after genetic confirmation for an increased risk of malignancy. When the patient was seen 1 year later, we performed ultrasonography because of no menstrual outflow. Pelvic ultrasonography revealed a hypoplastic uterus (26 x 12 mm) with a rudimentary cervix. CONCLUSION: Clinical phenotypes of different mutations of the y chromosome, particularly on SRY, may cause Swyer syndrome patients to have a uterus with fertility potential after oocyte donation.- - - - - - - - - - ranking = 9.8402438663531keywords = physical examination, physical (Clic here for more details about this article) |
8/16. Menstrual abnormalities in a woman with ACTH-dependent pituitary macroadenoma mimicking polycystic ovary syndrome.OBJECTIVE: Here, we present a case of ACTH-dependent pituitary macroadenoma (Cushing's disease) resulting in secondary amenorrhea mimicking polycystic ovary syndrome (PCOS). CASE REPORT: A 20-year-old nulligravid woman had been suffering from oligomenorrhea, amenorrhea, and moderate hirsutism since the age of 18 years. She visited a gynecologic clinic where PCOS was impressed according to the clinical manifestation and ultrasound finding. The patient responded to medication in the 1st year, but gradually failed to induce menses. She was advised to visit the endocrinology department for secondary amenorrhea and endocrine survey. physical examination revealed central obesity, supraclavicle fatpad, abdominal striae, and myopathy of four limbs. Endocrine studies revealed: serum prolactin 21 ng/mL (3.0-20 ng/mL), FSH 5.69 mIU/mL (3.4-10.0 mIU/mL), LH 1.01 mIU/mL (1.1-11.6 mIU/mL), E2 < 20 pg/mL (follicular phase 53-258 pg/mL), ACTH 110 pg/mL (0-46.0 pg/mL), cortisol 26.7 microg/dL at 8 a.m. (5.0-25 microg/dL), cortisol 21.3 microg/dL at 11 p.m. (half of normal morning value). Right pituitary macroadenoma was diagnosed through a series of dexamethasone tests and MRI. The patient received staging surgery including transsphenoidal adenomectomy and right frontotemporal craniotomy. As a result, the patient's physical condition gradually improved, and her menstrual cycle became regular with medication after the operation in the outpatient follow-up. CONCLUSION: PCOS is a common disease resulting in secondary amenorrhea. However, Cushing's syndrome resulting from pituitary macroadenoma should also be considered. Therefore, a careful history, observation, physical examination, and endocrine studies can differentiate between patients with PCOS and Cushing's disease.- - - - - - - - - - ranking = 10.840243866353keywords = physical examination, physical (Clic here for more details about this article) |
9/16. 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) |
10/16. Hormonal evaluation of female infertility and reproductive disorders.Performance of the male and female reproductive systems reflects the orderly operation of the hypothalamic-pituitary-gonadal axis. Aberrant operation of this axis can result in many different reproductive disorders, including various forms of infertility. Proper evaluation of these disorders involves a multifaceted diagnostic approach, which includes a critical contribution from the clinical laboratory. This adjunctive testing, involving the measurements of peptide and sex-steroid hormone concentrations, allows the clinician to biochemically "dissect" the hypothalamic-pituitary-gonadal axis and ascertain the presence as well as location of the specific defect. In practice, the specific tests utilized during the evaluation of a patient depend upon the underlying disorder. Typically, in evaluating the reproductive disorders discussed in this review, a primary battery of tests is obtained that reflects the initial clinical presentation and physical examination. The results of these initial studies then dictate any secondary testing required to complete the evaluation. Such an approach, in use at our institution, is provided in Table 5. Although this discussion has concentrated on the laboratory assessment of the female reproductive system, it is important to remember the special case of infertility, where couples, in general, are evaluated together by the clinician. The cause of infertility can reside with the female, the male, or, in the cases of immunological "incompatibilities," a combination of the male and the female. As such, rigorous schemes for evaluating male reproductive disorders (1, 3, 89-94) and immunological incompatibilities (95-98) have been developed, and the information derived from such testing represents a critical contribution to establishing the etiology of a couple's infertility. Although the laboratory assessment of peptide and sex-steroid hormone concentrations clearly plays a pivotal role in the evaluation of reproductive disorders, these diagnostic tools probably will continue to change and improve in the years to come. Such changes will probably occur as the finer details of the operation of the hypothalamic-pituitary-gonadal axis become known. With this improved knowledge, we should have the capacity to design assays that will allow more clinically refined and biochemically precise means of diagnosing and treating specific reproductive disorders.- - - - - - - - - - ranking = 9.8402438663531keywords = physical examination, physical (Clic here for more details about this article) |
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