Duplication of the STS region in males is a benign copy-number variant.

Copy-number variants (CNVs) are a common finding in the human genome, with copy gains occurring at a higher frequency than losses in several databases of genomic variants in normal individuals. Copy gains of the steroid sulfatase (STS) gene have been seen in both males and females. Although deletion of STS in males is known to cause X-linked ichthyosis, the clinical significance of STS copy gains is less clear, with the duplication reported in individuals with abnormal phenotypes and normal relatives. We identified 72 males submitted to our laboratory for microarray-based comparative genomic hybridization with duplications in the STS region (chrX:6,465,812-8,093,195). In 40 (56%) patients, maternal blood was available, and the duplication was found to be inherited from the patient's apparently phenotypically normal mother in each of the 40 patients. We also identified three females who inherited a duplication of the STS region from phenotypically normal fathers, and a phenotypically normal uncle who had the same duplication as his nephews. In the remaining cases the inheritance could not be confirmed owing to lack of parental samples available for testing. Of the 72 subjects, 10 (14%) had an additional CNV elsewhere in the genome known to be clinically significant and likely causative of the patient's presenting symptoms. Based on the frequency with which duplications have been identified in clinically normal and abnormal individuals, we suggest a gain of STS in males is a population variant and unlikely to be clinically significant.

Debunking three rape myths.

BACKGROUND: Stereotypes and prejudicial misconceptions are prevalent regarding sexual assaults and victims' responses. These are collectively referred to as rape myths. This study examines three rape myths purporting that sexual assault victims (1) immediately report the crime, (2) experience severe physical and/or anogenital injuries, and (3) forcefully resist their assailant. STUDY DESIGN: This is a cross-sectional descriptive study examining presence of physical or anogenital injury, level of physical resistance during a sexual assault, and time to sexual assault report. Study subjects were female sexual assault victims examined by a sexual assault nurse examiner at Regions Hospital in St. Paul, Minnesota, in 2011 and 2012. RESULTS: Sexual assault nurse examiner reports for 317 subjects met the inclusion criteria and were reviewed. Twelve (4%) victims experienced physical injury requiring medical intervention. Thirty-four (11%) sustained anogenital injuries requiring medical intervention. Overall, 253 (81%) victims did not actively resist at some point during the assault, with 178 (57%) victims never actively resisting. Nearly half (129, 43%) did not appear in the emergency department for 12 or more hours from the time of the assault. CONCLUSION: Women who seek emergency department assistance after a sexual assault take a variable amount of time to present to the emergency department, rarely experience moderate or severe physical or anogenital injury, and commonly do not exert strong physical resistance against their attacker during at least part of the assault.

Inter-rater reliability in child sexual abuse diagnosis among expert reviewers.

OBJECTIVES: To determine how well experts agree when assessing child sexual abuse cases. METHODS: A total of twelve physician subjects were recruited and voluntarily enrolled from an existing peer review network. Experts from the network had been chosen for their experience in the field and their affiliation with children's advocacy centers. Each expert submitted three cases of prepubertal female genital examinations clearly demonstrable of the case findings. Submitted cases included demographics, history, physical and genital exam findings, photodocumentation, and diagnosis. Experts reviewed each submitted case and labeled the case negative for physical finding(s), positive for physical finding(s), or indeterminate. Cases were analyzed to determine the level of agreement. RESULTS: Thirty-six cases were submitted for use in this study; one case was excluded prior to starting the review process. After all experts completed their reviews the authors reviewed the cases and results. Two additional cases were excluded, one due to poor quality photodocumentation and one for not meeting the study criteria. Thirty-three cases were used for data analysis. All 12 expert reviewers agreed in 15 of the cases. Overall, in 22 of 33 (67%) cases at least 11 of the 12 reviewers agreed with the original diagnosis. Six of 33 (18%) cases had variable agreement (8-10 reviewers agreed with original diagnosis) among reviewers; 5 of 33 (15%) cases had poor or mixed agreement (7 or less reviewers agreed with original diagnosis). CONCLUSIONS: Experts exhibit consensus in cases where the findings clearly are normal and abnormal, but demonstrate much more variability in cases where the diagnostic decisions are less obvious. Most of the diagnostic variability is due to interpretation of the findings as normal, abnormal or indeterminate, not on the perception of the examination findings themselves. More research should be done to develop a national consensus on the accurate interpretation of anogenital examination findings. Photographic image quality plays an important role in this quality review process and universally needs to be improved.