Cohort profile: pathways to care among people with disorders of sex development (DSD).
Cohort profile: pathways to care among people with disorders of sex development (DSD).
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DOI：
10.1136/bmjopen-2022-063409
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发表时间：
2022-09-21
期刊：
影响因子：
2.9
通讯作者：
中科院分区：
文献类型：
--
作者：
“DSD途径”研究的发起是为了评估在大型综合医疗保健系统登记的人的健康状况和护理模式，并诊断出患有包括性别发育（DSD）障碍（差异）的广泛类别的疾病。本文的目的是描述两种特殊的DSD疾病的队列确定方法-典型的先天性肾上腺皮质增生伴46，XX核型（46，XX CAH）和完全雄激素不敏感综合征（CAIS）。使用电子健康记录，我们开发了一种算法，该算法结合了诊断代码，临床记录，实验室数据和药房记录，为每个队列候选人分配支持感兴趣诊断的“证据强度”评分。队列候选人的样本进行了完整的医疗记录的审查，以确定最终队列验证的评分截止值。在5404例经典的46，XX CAH队列候选者中，证据强度评分范围为0 - 10。根据样本验证，将8岁以下儿童的证据强度评分≥7，老年队列候选人的证据强度评分≥8，设定为全面审查的合格性截止值。所有符合截止标准的队列候选人的最终验证确定了115例经典46，XX CAH患者。648名CAIS队列候选人的证据强度评分范围为2至10。在得分<6的队列候选人中没有确诊的CAIS病例。对评分≥6分的候选人进行深入的病历审查，确定了61例CAIS确诊病例。作为第一个这类队列，DSD Pathways研究很好地填补了这一异质性人群中与管理和结局相关的现有知识空白。分析将检查诊断和转诊模式，遵守护理建议，通过比较DSD和参考人群以及分析DSD类别的健康状况来检查身心健康发病率。
The ‘DSD Pathways’ study was initiated to assess health status and patterns of care among people enrolled in large integrated healthcare systems and diagnosed with conditions comprising the broad category of disorders (differences) of sex development (DSD). The objectives of this communication are to describe methods of cohort ascertainment for two specific DSD conditions—classic congenital adrenal hyperplasia with 46, XX karyotype (46, XX CAH) and complete androgen insensitivity syndrome (CAIS). Using electronic health records we developed an algorithm that combined diagnostic codes, clinical notes, laboratory data and pharmacy records to assign each cohort candidate a ‘strength-of-evidence’ score supporting the diagnosis of interest. A sample of cohort candidates underwent a review of the full medical record to determine the score cutoffs for final cohort validation. Among 5404 classic 46, XX CAH cohort candidates the strength-of-evidence scores ranged between 0 and 10. Based on sample validation, the eligibility cut-off for full review was set at the strength-of-evidence score of ≥7 among children under the age of 8 years and ≥8 among older cohort candidates. The final validation of all cohort candidates who met the cut-off criteria identified 115 persons with classic 46, XX CAH. The strength-of-evidence scores among 648 CAIS cohort candidates ranged from 2 to 10. There were no confirmed CAIS cases among cohort candidates with scores <6. The in-depth medical record review for candidates with scores ≥6 identified 61 confirmed cases of CAIS. As the first cohort of this type, the DSD Pathways study is well-positioned to fill existing knowledge gaps related to management and outcomes in this heterogeneous population. Analyses will examine diagnostic and referral patterns, adherence to care recommendations and physical and mental health morbidities examined through comparisons of DSD and reference populations and analyses of health status across DSD categories.
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DOI：
10.1146/annurev-genom-091212-153417
发表时间：
2013
影响因子：
8.7
作者：
Baxter RM;Vilain E
通讯作者：
Vilain E
影响因子：
2
作者：
Farrugia, M. K.;Sebire, N. J.;Achermann, J. C.;Eisawi, A.;Duffy, P. G.;Mushtaq, I.
通讯作者：
Mushtaq, I.
DOI：
10.1186/1687-9856-2013-15
发表时间：
2013-09-12
期刊：
International journal of pediatric endocrinology
影响因子：
--
作者：
Chuang J;Vallerie A;Breech L;Saal HM;Alam S;Crawford P;Rutter MM
通讯作者：
Rutter MM
影响因子：
3.5
作者：
Arboleda VA;Lee H;Sánchez FJ;Délot EC;Sandberg DE;Grody WW;Nelson SF;Vilain E
通讯作者：
Vilain E
DOI：
10.1016/j.beem.2009.12.002
发表时间：
2010-04-01
影响因子：
7.4
作者：
Biason-Lauber, Anna
通讯作者：
Biason-Lauber, Anna