Background The incidence of both type 1 diabetes (T1DM) and type 2 diabetes (T2DM) in children and youth is increasing. However, the current approach for identifying pediatric diabetes and separating by type is costly, because it requires substantial manual efforts. Objective The purpose of this study was to develop a computable phenotype for accurately and efficiently identifying diabetes and separating T1DM from T2DM in pediatric patients. Methods This retrospective study utilized a data set from the University of Florida Health Integrated Data Repository to identify 300 patients aged 18 or younger with T1DM, T2DM, or that were healthy based on a developed computable phenotype. Three endocrinology residents/fellows manually reviewed medical records of all probable cases to validate diabetes status and type. This refined computable phenotype was then used to identify all cases of T1DM and T2DM in the OneFlorida Clinical Research Consortium. Results A total of 295 electronic health records were manually reviewed; of these, 128 cases were found to have T1DM, 35 T2DM, and 132 no diagnosis. The positive predictive value was 94.7%, the sensitivity was 96.9%, specificity was 95.8%, and the negative predictive value was 97.6%. Overall, the computable phenotype was found to be an accurate and sensitive method to pinpoint pediatric patients with T1DM. Conclusions We developed a computable phenotype for identifying T1DM correctly and efficiently. The computable phenotype that was developed will enable researchers to identify a population accurately and cost-effectively. As such, this will vastly improve the ease of identifying patients for future intervention studies.
Cysts of the external female genitalia are uncommon findings and can be either congenital or acquired. Congenital cysts of the external female genitalia may be discovered from the initial newborn examination and cause concern for clitoromegaly or ambiguous genitalia. We describe a clitoral cyst presenting as apparent clitoromegaly in a newborn; this is the third reported case in the literature. We also review the differential and evaluation for clitoromegaly in a newborn. We present a case of a 1-day-old newborn, with concern for clitoromegaly on initial newborn examination. Multiple anatomy ultrasounds were performed during pregnancy and no genital abnormality was noted. On physical examination, a 1 × 1 cm cyst was found on the clitoral hood obstructing the clitoris and vaginal opening. There were no signs of virilization or hyperandrogenism on examination. The cyst was aspirated, with clear, serous fluid removed. Normal female anatomy and normal clitoris size were noted after aspiration. She had no recurrence of the cyst in the months after discharge. Clitoral cysts of the female external genitalia are rare findings. Baring signs of virilization of hyperandrogenism, conservative management and watchful waiting or cyst drainage are reasonable approaches.
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