Cohort profile: pathways to care among people with disorders of sex development (DSD)
Purpose 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 communicati...
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| Format: | Article |
| Language: | English |
| Published: |
BMJ Publishing Group
2022-09-01
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| Series: | BMJ Open |
| Online Access: | https://bmjopen.bmj.com/content/12/9/e063409.full |
| _version_ | 1828341764633657344 |
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| author | Qi Zhang Timothy L Lash Haihong Hu Rebecca Nash Richard Contreras Lee Cromwell Darios Getahun Brandi Robinson Douglas Roblin Michael Goodman Suma Vupputuri Courtney E McCracken Yijun Liu Rami Yacoub Melissa D Gardner Trenton Hoffman Theresa M Im Radhika Prakash Asrani Fagen Xie Sadaf A Bhai Kripa Venkatakrishnan Bethany Stoller Cricket Gullickson Maaz Ahmed David Rink Ava Voss Hye-Lee Jung Jin Kim Peter A Lee David E Sandberg |
| author_facet | Qi Zhang Timothy L Lash Haihong Hu Rebecca Nash Richard Contreras Lee Cromwell Darios Getahun Brandi Robinson Douglas Roblin Michael Goodman Suma Vupputuri Courtney E McCracken Yijun Liu Rami Yacoub Melissa D Gardner Trenton Hoffman Theresa M Im Radhika Prakash Asrani Fagen Xie Sadaf A Bhai Kripa Venkatakrishnan Bethany Stoller Cricket Gullickson Maaz Ahmed David Rink Ava Voss Hye-Lee Jung Jin Kim Peter A Lee David E Sandberg |
| author_sort | Qi Zhang |
| collection | DOAJ |
| description | Purpose 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).Participants 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.Findings to date 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.Future plans 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. |
| first_indexed | 2024-04-13T23:18:56Z |
| format | Article |
| id | doaj.art-d0d35b2486014f0da80246d30cb402c7 |
| institution | Directory Open Access Journal |
| issn | 2044-6055 |
| language | English |
| last_indexed | 2024-04-13T23:18:56Z |
| publishDate | 2022-09-01 |
| publisher | BMJ Publishing Group |
| record_format | Article |
| series | BMJ Open |
| spelling | doaj.art-d0d35b2486014f0da80246d30cb402c72022-12-22T02:25:18ZengBMJ Publishing GroupBMJ Open2044-60552022-09-0112910.1136/bmjopen-2022-063409Cohort profile: pathways to care among people with disorders of sex development (DSD)Qi Zhang0Timothy L Lash1Haihong Hu2Rebecca Nash3Richard Contreras4Lee Cromwell5Darios Getahun6Brandi Robinson7Douglas Roblin8Michael Goodman9Suma Vupputuri10Courtney E McCracken11Yijun Liu12Rami Yacoub13Melissa D Gardner14Trenton Hoffman15Theresa M Im16Radhika Prakash Asrani17Fagen Xie18Sadaf A Bhai19Kripa Venkatakrishnan20Bethany Stoller21Cricket Gullickson22Maaz Ahmed23David Rink24Ava Voss25Hye-Lee Jung26Jin Kim27Peter A Lee28David E Sandberg29Epidemiology, Rollins School of Public Health, Atlanta, Georgia, USAEpidemiology, Rollins School of Public Health, Atlanta, Georgia, USAMid-Atlantic Permanente Research Institute, Kaiser Permanente, Rockville, Maryland, USAEpidemiology, Rollins School of Public Health, Atlanta, Georgia, USAResearch and Evaluation, Kaiser Permanente Southern California, Pasadena, California, USACenter for Research and Evaluation, Kaiser Permanente Georgia, Atlanta, Georgia, USAResearch and Evaluation, Kaiser Permanente Southern California, Pasadena, California, USACenter for Research and Evaluation, Kaiser Permanente Georgia, Atlanta, Georgia, USAMid-Atlantic Permanente Research Institute, Kaiser Permanente, Rockville, Maryland, USAEpidemiology, Rollins School of Public Health, Atlanta, Georgia, USAMid-Atlantic Permanente Research Institute, Kaiser Permanente, Rockville, Maryland, USACenter for Research and Evaluation, Kaiser Permanente Georgia, Atlanta, Georgia, USAEpidemiology, Rollins School of Public Health, Atlanta, Georgia, USAEpidemiology, Rollins School of Public Health, Atlanta, Georgia, USASusan B Meister Child Health and Evaluation Research Center, University of Michigan Medical School, Ann Arbor, Michigan, USAEpidemiology, Rollins School of Public Health, Atlanta, Georgia, USAResearch and Evaluation, Kaiser Permanente Southern California, Pasadena, California, USAEpidemiology, Rollins School of Public Health, Atlanta, Georgia, USAResearch and Evaluation, Kaiser Permanente Southern California, Pasadena, California, USAEpidemiology, Rollins School of Public Health, Atlanta, Georgia, USAEpidemiology, Rollins School of Public Health, Atlanta, Georgia, USAEpidemiology, Rollins School of Public Health, Atlanta, Georgia, USAEpidemiology, Rollins School of Public Health, Atlanta, Georgia, USAEpidemiology, Rollins School of Public Health, Atlanta, Georgia, USAEpidemiology, Rollins School of Public Health, Atlanta, Georgia, USAEpidemiology, Rollins School of Public Health, Atlanta, Georgia, USAEpidemiology, Rollins School of Public Health, Atlanta, Georgia, USAEpidemiology, Rollins School of Public Health, Atlanta, Georgia, USADivision of Endocrinology, Department of Pediatrics, Penn State College of Medicine, Hershey, Pennsylvania, USASusan B Meister Child Health and Evaluation Research Center, University of Michigan Medical School, Ann Arbor, Michigan, USAPurpose 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).Participants 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.Findings to date 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.Future plans 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.https://bmjopen.bmj.com/content/12/9/e063409.full |
| spellingShingle | Qi Zhang Timothy L Lash Haihong Hu Rebecca Nash Richard Contreras Lee Cromwell Darios Getahun Brandi Robinson Douglas Roblin Michael Goodman Suma Vupputuri Courtney E McCracken Yijun Liu Rami Yacoub Melissa D Gardner Trenton Hoffman Theresa M Im Radhika Prakash Asrani Fagen Xie Sadaf A Bhai Kripa Venkatakrishnan Bethany Stoller Cricket Gullickson Maaz Ahmed David Rink Ava Voss Hye-Lee Jung Jin Kim Peter A Lee David E Sandberg Cohort profile: pathways to care among people with disorders of sex development (DSD) BMJ Open |
| title | Cohort profile: pathways to care among people with disorders of sex development (DSD) |
| title_full | Cohort profile: pathways to care among people with disorders of sex development (DSD) |
| title_fullStr | Cohort profile: pathways to care among people with disorders of sex development (DSD) |
| title_full_unstemmed | Cohort profile: pathways to care among people with disorders of sex development (DSD) |
| title_short | Cohort profile: pathways to care among people with disorders of sex development (DSD) |
| title_sort | cohort profile pathways to care among people with disorders of sex development dsd |
| url | https://bmjopen.bmj.com/content/12/9/e063409.full |
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