Objective-Describe anti-Müllerian hormone (AMH) variation across normal menstrual cycles.
Design-Cohort study
Setting-Academic environment
Patients-Twenty regularly-menstruating womenInterventions-Serum AMH and inhibin B assayed daily during one normal menstrual cycle
Main Outcome Measures-Intracycle variability of AMH and inhibin BResults-Data was classified into quartiles of AMH area-under-the-curve (AUCs). Mean AMH AUC was 15.7 ng/ml for Quartile 1 vs. 43.5, 80.9 and 144.9 ng/ml for Quartiles 2, 3 and 4. Mean AMH levels (ng/ml) were 0.67, 1.71, 3.02, and 5.33, respectively. There was no variation in Quartile 1 AMH rate of change from stochastic modeling, but in Quartiles 2-4, there were increased rates of change in days 2-7. Women in Quartile 1 had the lowest mean inhibin B (24.2 pg/ml vs. 44.3, 43.2, and 42.2 pg/ml) and had shorter menstrual cycles (24.6 days) than women in Quartiles 3 and 4 (28.2 and 28.4 days).Conclusions-There were two menstrual cycle patterns of AMH. The "aging ovary" pattern included low AMH levels with little variation, lower inhibin B and shorter cycle lengths. The "younger ovary" pattern included higher AMH levels with significant variation days 2-7, suggesting that for women with AMH >1 ng/ml, the interpretation of AMH levels is contingent upon the day of the menstrual cycle on which specimen is obtained.
Background: Recent recognition that a predisposition to prostate cancer can be inherited has led to a search for specific genes associated with the disease. Through a study of families with three or more affected first-degree relatives, a region on the long arm of chromosome 1 (i.e., 1q24-25) has been tentatively identified as containing a gene, HPC1, involved in the development of hereditary prostate cancer. Confirmation of this finding is needed, however, before attempts are made to isolate and characterize the putative HPC1 gene. Purpose: To confirm that chromosome 1q24-25 contains a gene relevant to hereditary prostate cancer, we analyzed an independent set of families, each with two or more affected individuals. Methods: Fifty-nine unrelated families were selected for analysis on the sole criterion that more than one living family member was affected by prostate cancer. DNA samples were subsequently isolated from 130 individuals with the disease. These samples were genotyped at six polymorphic marker sequences (D1S215, D1S2883, D1S466, D1S158, D1S518, and D1S2757) covering the chromosomal region proposed to contain HPC1. The resulting data were analyzed by nonparametric multipoint linkage (NPL) methods, yielding NPL Z scores and corresponding one-sided P values. Results: When the entire set of 59 families was considered, the occurrence of prostate cancer (and, presumably, the HPC1 gene) was most tightly linked to marker D1S466 (NPL Z score = 1.58; P = .0574). Analysis of the 20 families (51 affected individuals) fulfilling one or more of the proposed clinical criteria for hereditary prostate cancer (i.e., three or more affected individuals within one nuclear family; affected individuals in three successive generations [maternal or paternal lineage]; and/or clustering of two or more individuals affected before the age of 55 years) revealed more convincing evidence of disease linkage to chromosome 1q24-25 (maximum NPL Z score [at marker D1S466] = 1.72; P = .0451). The 39 families (79 affected individuals) that did not meet the clinical criteria for hereditary prostate cancer exhibited no significant evidence of dis-*Affiliations of authors:
Our data confirm that chromosome 1q24-25 is likely to contain a prostate cancer susceptibility gene. Future efforts at positional cloning of the HPC1 gene should focus on families who meet the proposed clinical criteria for hereditary prostate cancer.
Congenital anomalies of the vagina may be isolated to the vagina or be part of a more complex Mullerian tract anomaly with possible fertility concerns. Patient age, complete assessment of the anomaly before surgery, and the psychologic implications for the patient are important components of the initial evaluation and treatment planning. Imaging, including magnetic resonance imaging, should be used to assess the extent of the anomaly and possibly other organ systems involved. Surgeries for imperforate hymen, longitudinal septum, and low thin transverse septum are relatively straightforward. More complicated surgeries should be performed by a specialized surgical team.
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