Pathways to care and health outcomes among DSD patients

项目总结/摘要 该提案的目标是开展一项纵向研究，对以下人群的护理模式和健康结果进行研究： 被诊断患有性发育障碍（DSD）的人。我们建议对DSD进行研究 来自三个大型综合医疗保健系统（HCS）的患者：Kaiser Permanente Southern加州 （KPSC），凯撒永久格鲁吉亚（KPGA）和凯撒永久大西洋中部各州（KPMAS）。这些 HCS共享类似结构的电子医疗记录（EMR），并代表地理上，社会上， 经济和人口结构多样化的人口近500万。大多数数据方法 本申请中描述的收集已在我们最近完成的 或正在进行的变性人研究。将这些方法应用于2006-2015年的数据， 在2010年的研究中，我们根据诊断或医疗记录中的关键词确定了19，233名“可能患有DSD”的患者。 此外，47,107人被确定为“可能的DSD”（例如，非特异性子宫畸形 或尿道下裂）。建议的项目将涉及DSD研究的三个重要领域：1）模式 和指南-护理一致性; 2）治疗争议;和3）合并症和长期健康 结果。我们将使用有效的EMR数据来估计确诊的DSD患者的百分比， 接受了诊断检查，并根据目前的建议接受了护理。我们将研究 指导方针一致的DSD管理是否与健康结果相关，例如需要 额外的护理和行为健康问题在以后的生活。经常被引用的分歧领域是最佳的 在非典型或不明确的生殖器病例中进行性别分配手术的时机，有些人主张早期 程序和其他人主张推迟。另一个有争议的问题是， 染色体核型包括Y染色体物质（+Y DSD）的DSD患者的预防性性腺切除术。我们 将使用相关的KPSC，KPGA和KPMA诊断和程序代码来识别生殖器手术， 性腺切除术使用这些数据，我们将评估性别分配的时间之间的关联 手术和手术并发症，性别焦虑或以后生活中的其他健康问题。我们还将 审查病理学报告以估计“阳性性腺切除术”的频率和决定因素，即，与 恶性或癌前病变的证据。然后，我们将比较渠务署的健康状况指标， 患者之间的年龄和成员匹配的非DSD男性和非DSD相应的措施 女性HCS入组者（参考队列）。我们将检查合并症的发生率和患病率， 不同年龄组、不同类型的DSD疾病以及相对于匹配人群的长期健康结果 参考队列。拟议的项目将由一个多学科小组执行，其中包括下列领域的专家： DSD研究和护理，基于EMR的数据收集，流行病学和卫生服务评估。

PROJECT SUMMARY/ABSTRACT The goal of this proposal is to develop a longitudinal study of patterns of care and health outcomes among individuals who were diagnosed with disorders of sex development (DSD). We propose a study of DSD patients from three large integrated health care systems (HCS): Kaiser Permanente Southern California (KPSC), Kaiser Permanente Georgia (KPGA), and Kaiser Permanente Mid-Atlantic States (KPMAS). These HCS share similarly structured electronic medical records (EMRs) and represent a geographically, socio- economically, and demographically diverse population of nearly 5 million members. Most methods of data collection described in the current application have been successfully implemented in our recently completed or ongoing studies of transgender people. Applying these methods to the 2006-2015 data at the participating sites, we identified 19,233 patients with “likely DSD” based on diagnoses or keywords in the medical records. In addition, 47,107 individuals were identified as having “possible DSDs” (e.g., non-specified uterine anomalies or hypospadias). The proposed project will address three areas of importance in DSD research: 1) patterns and guideline-concordance of care; 2) controversies in treatment; and 3) comorbidities and long-term health outcomes. We will use validated EMR data to estimate the percentages of confirmed DSD patients who underwent diagnostic workup and received care according to current recommendations. We will examine whether guideline concordant DSD management is associated with health outcomes, such as the need for additional care and behavioral health problems later in life. The often cited area of disagreement is the optimal timing of sex assignment surgery in cases of atypical or ambiguous genitalia with some advocating early procedures and others arguing for a deferral. Another controversial issue is the common practice of a prophylactic gonadectomy for DSD patients whose karyotype includes Y-chromosome material (+Y DSD). We will use relevant KPSC, KPGA, and KPMA diagnostic and procedure codes to identify genital surgery and gonadectomies. Using these data we will assess the association between timing of gender assignment procedures and surgical complications, gender dysphoria, or other health problems later in life. We will also review pathology reports to estimate the frequency and determinants of “positive gonadectomy,” i.e., with evidence of malignant or premalignant lesions. We will then compare measures of health status of DSD patients to the corresponding measures among age- and membership matched non-DSD male and non-DSD female HCS enrollees (reference cohort). We will examine the incidence and prevalence of comorbidities and long-term health outcomes across age groups, categories of DSD conditions, and relative to the matched reference cohort. The proposed project will be carried out by a multidisciplinary team that includes experts in DSD research and care, EMR-based data collection, epidemiology, and evaluation of health services.