Apparent Clitoromegaly in Healthy Female Newborn.

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.

Real-World Screening for Retinopathy in Youth With Type 1 Diabetes Using a Nonmydriatic Fundus Camera.

OBJECTIVE: To assess the use of a portable retinal camera in diabetic retinopathy (DR) screening in multiple settings and the presence of associated risk factors among children, adolescents, and young adults with type 1 diabetes. DESIGN AND METHODS: Five hundred youth with type 1 diabetes of at least 1 year's duration were recruited from clinics, diabetes camp, and a diabetes conference and underwent retinal imaging using a nonmydriatic fundus camera. Retinal characterization was performed remotely by a licensed ophthalmologist. Risk factors for DR development were evaluated by a patient-reported questionnaire and medical chart review. RESULTS: Of the 500 recruited subjects aged 9-26 years (mean 14.9, SD 3.8), 10 cases of DR were identified (nine mild and one moderate nonproliferative DR) with 100% of images of gradable quality. The prevalence of DR was 2.04% (95% CI 0.78-3.29), at an average age of 20.2 years, with the youngest affected subject being 17.1 years of age. The rate of DR was higher, at 6.5%, with diabetes duration >10 years (95% CI 0.86-12.12, P = 0.0002). In subjects with DR, the average duration of diabetes was 12.1 years (SD 4.6, range 6.2-20.0), and in a subgroup of clinic-only subjects (n = 114), elevated blood pressure in the year before screening was associated with DR (P = 0.0068). CONCLUSION: This study in a large cohort of subjects with type 1 diabetes demonstrates that older adolescents and young adults (>17 years) with longer disease duration (>6 years) are at risk for DR development, and screening using a portable retinal camera is feasible in clinics and other locations. Recent elevated blood pressure was a risk factor in an analyzed subgroup.

UNEXPECTED HYPERPARATHYROIDISM IN A PATIENT WITH ACRODYSOSTOSIS.

OBJECTIVE: Acrodysostosis is a rare skeletal dysplasia with one gene mutation associated with pseudohypoparathyroidism. We describe a 15-year-old male patient with genetic acrodysostosis who presented with hyperparathyroidism. METHODS: Laboratory testing, including genetic testing for acrodysostosis and biochemical evaluation for hypercalcemia, were obtained. For evaluation of the source of hyperparathyroidism, parathyroid imaging including technetium (99mTc) sestamibi (MIBI) scan, ultrasound, and 4-dimensional computed tomography scans were performed. RESULTS: The initial calcium level of 11.7 mg/dL (reference range is 8.4 to 10.2 mg/dL), phosphorus of 2.6 mg/dL (reference range is 2.9 to 5.0 mg/dL), and parathyroid hormone (PTH) of 177 pg/mL (reference range is 15 to 65 pg/mL) were suspicious for hyperparathyroidism. Magnesium, albumin, creatinine, and PTH-related peptide levels were normal. His calcium/creatinine ratio was 0.15, calcium/creatinine clearance ratio was 0.008, and the fractional excretion of phosphorus was 34%. Our patient had no symptoms other than long-standing bone pain. Thyroid ultrasound then MIBI scan did not show a parathyroid adenoma or parathyroid gland hyperplasia. Familial hypocalciuric hypercalcemic syndrome was entertained, but without a family history and documented normal calcium levels throughout childhood, it was considered unlikely. On subsequent testing, his calcium and PTH levels increased. Subsequent imaging including repeat thyroid ultrasound, MIBI scan, and computed tomography did not find a definitive cause. Multiple endocrine neoplasia type 1 genetic testing was negative. Without an adenoma seen to remove surgically, we performed a trial of cinacalcet with successful reduction in PTH and normalization of his calcium and phosphorus levels. CONCLUSION: Pseudohypoparathyroidism and hypocalcemia are well reported in acrodysostosis. To the best of our knowledge, this is the first reported case of hypercalcemia caused by hyperparathyroidism in a patient with acrodysostosis.

An Iterative Process for Identifying Pediatric Patients With Type 1 Diabetes: Retrospective Observational Study.

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.

Risk Factors for Cardiovascular Disease (CVD) in Adults with Type 1 Diabetes: Findings from Prospective Real-life T1D Exchange Registry.

CONTEXT: Cardiovascular disease (CVD) is a major cause of mortality in adults with type 1 diabetes. OBJECTIVE: We prospectively evaluated CVD risk factors in a large, contemporary cohort of adults with type 1 diabetes living in the United States. DESIGN: Observational study of CVD and CVD risk factors over a median of 5.3 years. SETTING: The T1D Exchange clinic network. PATIENTS: Adults (age ≥ 18 years) with type 1 diabetes and without known CVD diagnosed before or at enrollment. MAIN OUTCOME MEASURE: Associations between CVD risk factors and incident CVD were assessed by multivariable logistic regression. RESULTS: The study included 8,727 participants (53% female, 88% non-Hispanic white, median age 33 years [interquartile ratio {IQR} = 21, 48], type 1 diabetes duration 16 years [IQR = 9, 26]). At enrollment, median HbA1c was 7.6% (66 mmol/mol) (IQR = 6.9 [52], 8.6 [70]), 33% used a statin, and 37% used blood pressure medication. Over a mean follow-up of 4.6 years, 325 (3.7%) participants developed incident CVD. Ischemic heart disease was the most common CVD event. Increasing age, body mass index, HbA1c, presence of hypertension and dyslipidemia, increasing duration of diabetes, and diabetic nephropathy were associated with increased risk for CVD. There were no significant gender differences in CVD risk. CONCLUSION: HbA1c, hypertension, dyslipidemia and diabetic nephropathy are important risk factors for CVD in adults with type 1 diabetes. A longer follow-up is likely required to assess the impact of other traditional CVD risk factors on incident CVD in the current era.

Macular Pigment and Visual Performance in Low-Light Conditions.

PURPOSE: By reducing rod intrusion and improving efficiency of neural signaling throughout the visual system, macular pigment (MP) could improve many aspects of visual performance in low-light level conditions. Our study examined this possibility for a variety of visual performance parameters, including spatial resolution, dark adaptation kinetics, and color detection. METHODS: Twenty-seven subjects participated in the study. Spatial profiles of MP optical density (MPOD) were determined by using heterochromatic flicker photometry. Mesopic- and scotopic-adaptation level experiments were conducted in Maxwellian view. RESULTS: Subjects with higher MPOD required significantly lower contrast to detect the mesopic-level resolution targets; this effect became stronger with increasing spatial frequency. Dark adaptation recovery times were significantly faster as a function of MPOD (by nearly 2 minutes for the lowest mesopic-level task [high versus low MPOD]; P < 0.001). Absolute scotopic thresholds were also significantly associated with MPOD (P < 0.001). Macular pigment optical density was inversely associated with detection of yellow (P < 0.001), and, paradoxically, approached a significant positive correlation with the detection of blue (P = 0.06). CONCLUSIONS: Macular pigment appears to enhance visual function in low-light conditions. Based on the results of this study, it can be said that MP extends the range of foveal vision into lower light. Additionally, MP appears to enhance dark adaptation kinetics, which suggests that increased MPOD leads to more efficient photopigment regeneration. The findings of the color detection portion of the study are suggestive of an active compensatory mechanism that offsets absorption by MP in order to maintain normal color perception.