Female gonadal development in XX patients with distal 9p monosomy.
(1/34)
OBJECTIVE: A sex determining gene(s) has been mapped to a approximately 700 kb region distal to the exons of DMRT1 on 9p. The aim of this study was to examine gonadal developmental status in XX patients hemizygous for the 9p sex determining region. DESIGN: Clinical and molecular studies were performed in an 8-year-old girl with 46,XX,del(9)(p22) (case 1) and in a 2-year-old girl with 46,XX,del(9)(p23) (case 2). METHODS: Ovarian function status was assessed by gonadotrophin-releasing hormone (GnRH) tests. Hemizygosity for the sex determining region was examined by fluorescence in situ hybridisation and microsatellite analyses for a total of 17 loci on distal 9p. RESULTS: GnRH tests indicated mild gonadotrophin hyper responses in both cases (case 1: follicle stimulating hormone 9.2-->22.7 IU/l, luteinising hormone 0.7 --> 16.6 IU/l; case 2: follicle stimulating hormone 7.6 --> 38.2 IU/l, luteinising hormone 0.6 --> 9.4 IU/l). Molecular studies showed hemizygosity for the 9p sex determining region in both cases. CONCLUSIONS: The results, in conjunction with previous reports describing sex development in XX and XY patients hemizygous for the 9p sex determining region, imply that haploinsufficiency of the 9p sex determining gene(s) primarily hinders the formation of the indifferent gonad, leading to a wide range of testicular or ovarian development. (+info)
Assessment of ovarian reserve: is there still a role for ovarian biopsy in the light of new data?
(2/34)
Ovarian reserve depends on the number of primordial follicles in the ovarian cortex. It was suggested that determining the follicular density directly by obtaining ovarian biopsy might be more accurate than current indirect biochemical and ultrasonic tests, especially for women in the later stage of their reproductive life. It might also be important and beneficial for young patients having chemotherapy for malignant disease in whom the ovarian tissue should be considered for reimplantation after recovery. The advantages and pitfalls of obtaining ovarian biopsy in these cases are discussed in light of new emerging data on the natural distribution of primordial follicles in the human ovary and its implications. (+info)
Assessment of ovarian reserve. Is there still a role for ovarian biopsy? First do no harm!
(3/34)
Multiple endocrine, ultrasound-based and dynamic tests have been proposed for the assessment of ovarian reserve. Lately, ovarian biopsy has been proposed as a more representative functional test of ovarian reserve, and has been recommended as an early step in the investigation of infertility. Central to this hypothesis is the idea that a random biopsy of the ovarian cortex is reflective of the actual ovarian follicular pool. Recent studies have shown a wide variation in the number and distribution of ovarian follicles even from the same ovary and in the same patient. Coupled with the invasiveness of performing the biopsy and the risk of adhesion formation, we believe that there should not be a role for ovarian biopsy in ovarian reserve testing. (+info)
Intercycle variability of ovarian reserve tests: results of a prospective randomized study.
(4/34)
BACKGROUND: This study was designed to assess prospectively the intercycle variability (ICV) of basal FSH (bFSH), clomiphene citrate challenge test (CCCT) (analysis of the CCCT was performed by the parameter: sum bFSH + sFSH) and exogenous FSH ovarian reserve test (EFORT) (analysis of the EFORT included the following parameters: estradiol (E(2)) increment and inhibin B increment 24 h after administration of FSH), and secondarily to assess the influence of the variability of these ovarian reserve tests. METHODS: Eighty-five regularly menstruating patients, aged 18-39 years, participated in this prospective study, randomized, by a computer-designed four-blocks system into two groups. Forty-three patients underwent a CCCT, and 42 patients underwent an EFORT. Each test was performed 1-4 times in subsequent cycles, one test per cycle. During the first three cycles, patients were treated with intrauterine insemination (IUI). Follicle number and oocyte yield during IVF ovarian stimulation in the fourth cycle were taken as measures for ovarian reserve. RESULTS: The per cycle variance of bFSH ranged from 1.8 to 4.4 (maximum to minimum ratio of 2.44, P < 0.0001), while that of CCCT ranged from 21.3 to 70.6 (3.31, P < 0.0001). No significant change in per cycle variance was found for the E(2) increment (1.25, P > 0.2) and inhibin B increment (1.31, P > 0.2), which were the EFORT parameters. A large ICV of CCCT and bFSH test results was strongly associated with lower ovarian reserve. CONCLUSIONS: Our study shows that the ICV of the inhibin B increment and the E(2) increment in the EFORT is stable in consecutive cycles, which indicates that this reproducible test is a more reliable tool for determination of ovarian reserve than bFSH and CCCT. Women with limited ovarian reserve show a strong ICV of bFSH and FSH response to clomiphene citrate. (+info)
Assessment of ovarian reserve. Ovarian biopsy is not a valid method for the prediction of ovarian reserve.
(5/34)
The evaluation of ovarian reserve, often critical for the elderly infertile woman, is notoriously difficult and inaccurate. The place of ovarian biopsy in this evaluation has been hotly disputed for three decades, but not resolved. To examine the feasibility of ovarian biopsy for this purpose, a project was designed to estimate the total number of oocytes in a human ovary and investigate whether any biopsy regimen is representative of the follicular reserve in an individual. Ovaries removed from patients of reproductive age during operations not involving ovarian pathology were utilized to count the number and type of follicles found in multiple biopsies of 2 and 5 mm and in the whole ovary. Representative results taking into account the total number of follicles found in the whole ovary showed that predicted values based on the biopsies were extremely varied. We concluded that due to the huge variation in the distribution of follicles across the surface of the ovary, there is no place for this procedure in clinical evaluation of reproductive ageing in the individual patient. (+info)
Assessment of early postpartum reproductive performance in two high producing Estonian dairy herds.
(6/34)
Early postpartum (6 weeks) ovarian activity, hormonal profiles, uterine involution, uterine infections, serum electrolytes, glucose, milk acetoacetate and blood urea nitrogen (BUN) levels were studied in 2 Estonian high producing dairy herd with annual milk production of 7688 (Farm A) and 9425 (Farm B). From each farm 10 cows, with normal calving performance were used. Blood samples for the hormonal (PGF2alpha-metabolite, progesterone) analyses were withdrawn. On day 25 PP blood serum samples were taken for the evaluation of metabolic/electrolyte status. On the same day estimation of milk acetoacetate values was done. The ultrasound (US) was started on day 7 PP and was performed every 3rd day until the end of experiment. Uterine content, follicular activity and sizes of the largest follicle and corpus luteum were monitored and measured. Vaginal discharge and uterine tone were recorded during the rectal palpation. Each animal in the study was sampled for bacteriological examination using endometrial biopsies once a week. Two types of PGF2alpha-metabolite patterns were detected: elevated levels during 14 days PP, then decline to the basal level and then a second small elevation at the time of final elimination of the bacteria from the uterus: or elevated levels during first 7 days PP, then decline to the basal level and a second small elevation before the final elimination of bacteria. Endometritis was diagnosed in 5 cows in farm A and in 3 cows in farm B respectively. In farm A, 5 cows out of 10 ovulated during experimental period and in 1 cow cystic ovaries were found. In farm B, 3 cows out of 10 ovulated. In 3 cows cystic ovaries were found. Altogether 40% of cows had their first ovulation during the experimental period. Three cows in farm A and 5 cows in farm B were totally bacteria negative during the experimental period. The most frequent bacteria found were A. pyogenes, Streptococcus spp., E. coli., F. necrophorum and Bacteroides spp. The highest incidence of bacteriological species was found during the first 3 weeks in both farms. All animals were free from bacteria after 5th week PP in farm A and after 4th week in farm B respectively. Serum electrolytes and glucose levels were found to be within the reference limits for the cows in both farms. No significant difference was found between farms (p > 0.05). Low phosphorus levels were found in both farms. Significant difference (p < 0.05) was found in BUN levels between farms. In both farms milk acetoacetate values were staying within the reference range given for the used test (< 100 micromol/l). The uterine involution and bacterial elimination in the investigated cows could consider as normal but more profound metabolic studies could be needed to find reasons for later resumption of ovarian activity. Some recommendations to changing feeding regimes and strategies should also be given. (+info)
A systematic review of tests predicting ovarian reserve and IVF outcome.
(7/34)
The age-related decline of the success in IVF is largely attributable to a progressive decline of ovarian oocyte quality and quantity. Over the past two decades, a number of so-called ovarian reserve tests (ORTs) have been designed to determine oocyte reserve and quality and have been evaluated for their ability to predict the outcome of IVF in terms of oocyte yield and occurrence of pregnancy. Many of these tests have become part of the routine diagnostic procedure for infertility patients who undergo assisted reproductive techniques. The unifying goals are traditionally to find out how a patient will respond to stimulation and what are their chances of pregnancy. Evidence-based medicine has progressively developed as the standard approach for many diagnostic procedures and treatment options in the field of reproductive medicine. We here provide the first comprehensive systematic literature review, including an a priori protocolized information retrieval on all currently available and applied tests, namely early-follicular-phase blood values of FSH, estradiol, inhibin B and anti-Mullerian hormone (AMH), the antral follicle count (AFC), the ovarian volume (OVVOL) and the ovarian blood flow, and furthermore the Clomiphene Citrate Challenge Test (CCCT), the exogenous FSH ORT (EFORT) and the gonadotrophin agonist stimulation test (GAST), all as measures to predict ovarian response and chance of pregnancy. We provide, where possible, an integrated receiver operating characteristic (ROC) analysis and curve of all individual evaluated published papers of each test, as well as a formal judgement upon the clinical value. Our analysis shows that the ORTs known to date have only modest-to-poor predictive properties and are therefore far from suitable for relevant clinical use. Accuracy of testing for the occurrence of poor ovarian response to hyperstimulation appears to be modest. Whether the a priori identification of actual poor responders in the first IVF cycle has any prognostic value for their chances of conception in the course of a series of IVF cycles remains to be established. The accuracy of predicting the occurrence of pregnancy is very limited. If a high threshold is used, to prevent couples from wrongly being refused IVF, a very small minority of IVF-indicated cases (approximately 3%) are identified as having unfavourable prospects in an IVF treatment cycle. Although mostly inexpensive and not very demanding, the use of any ORT for outcome prediction cannot be supported. As poor ovarian response will provide some information on OR status, especially if the stimulation is maximal, entering the first cycle of IVF without any prior testing seems to be the preferable strategy. (+info)
Ovarian volume and antral follicle count for the prediction of low and hyper responders with in vitro fertilization.
(8/34)
BACKGROUND: The current study was designed to compare antral follicle count (AFC) and basal ovarian volume (BOV), the exogenous FSH ovarian reserve test (EFORT) and the clomiphene citrate challenge test (CCCT), with respect to their ability to predict poor and hyper responders. METHODS: One hundred and ten regularly menstruating patients, aged 18-39 years, participated in this prospective study, randomized, by a computer designed 4-blocks system study into two groups. Fifty six patients underwent a CCCT, and 54 patients underwent an EFORT. All patients underwent a transvaginal sonography to measure the basal ovarian volume and count of basal antral follicle. In all patients, the test was followed by a standard IVF treatment. The result of ovarian hyperstimulation during IVF treatment, expressed by the total number of follicles, was used as gold standard. RESULTS: The best prediction of ovarian reserve (Y) was seen in a multiple regression prediction model that included, AFC, Inhibin B-increment in the EFORT and BOV simultaneously (Y = -3.161 + 0.805 x AFC (0.258-1.352) + 0.034 x Inh. B-incr. (0.007-0.601) + 0.511 BOV (0.480-0.974) (r = 0.848, p < 0.001). Univariate logistic regression showed that the best predictors for poor response were the CCCT (ROC-AUC = 0.87), the bFSH (ROC-AUC = 0.83) and the AFC (ROC-AUC = 0.83). Multiple logistic regression analysis did not produce a better model in terms of improving the prediction of poor response. For hyper response, univariate logistic regression showed that the best predictors were AFC (ROC-AUC = 0.92) and the inhibin B-increment in the EFORT (ROC-AUC = 0.92), but AFC had better test characteristics, namely a sensitivity of 82% and a specificity 89%. Multiple logistic regression analysis did not produce a better model in terms of predicting hyper response. CONCLUSION: In conclusion AFC performs well as a test for ovarian response being superior or at least similar to complex expensive and time consuming endocrine tests. It is therefore likely to be the test for general practise. (+info)