Assessing the health-related management of people with differences of sex development

Jürgensen, Martina; Rapp, Marion; Döhnert, Ulla; Frielitz, Fabian‐Simon; Ahmed, S Faisal; Cools, Martine; Thyen, Ute; Hiort, Olaf

doi:10.1007/s12020-021-02627-y

Cited by 10 publications

(2 citation statements)

References 38 publications

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“…To date, most data on morbidity and care outcomes in DSD populations come from specialised centres. [85][86][87][88][89][90][91][92][93][94][95][96][97][98][99][100] Of those, the largest studies are based in Europe; [94][95][96][97][98][99][100] whereas US clinical studies tend to be relatively small. [88][89][90][91][92][93] Although these studies are characterised by high-quality data, they are dependent on referral patterns without a defined sampling frame.…”

Section: Discussionmentioning

confidence: 99%

“…Although the body of literature addressing health issues facing persons with DSD has been growing, due in large part to the development of clinical research networks,83 84 limited data are available on the general health status or the pathways to care in an unselected population of patients with DSD. To date, most data on morbidity and care outcomes in DSD populations come from specialised centres 85–100. Of those, the largest studies are based in Europe;94–100 whereas US clinical studies tend to be relatively small 88–93.…”

Section: Discussionmentioning

confidence: 99%

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Cohort profile: pathways to care among people with disorders of sex development (DSD)

et al. 2022

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PurposeThe ‘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).ParticipantsUsing 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.Findings to dateAmong 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.Future plansAs 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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