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.

Can we prevent type 1 diabetes?

Type 1 diabetes (T1D) affects 1.93 in 1000 youth in the USA. Over the last 40 years, a combination of genetic and immunological markers has been developed allowing for the accurate prediction of progression to T1D. Despite our abilities to predict disease and the marked improvement in our understanding of the natural history of T1D, therapies capable of preventing or reversing T1D remain elusive. This article will review recent and ongoing efforts to understand the causes of T1D and related efforts to study potential therapies aimed at preventing T1D.

An Early Case of Complete Androgen Insensitivity Syndrome.

Inguinal hernias are rare in female infants, and when present, there is an increased incidence of androgen insensitivity in these infants. We present a case of bilateral inguinal hernias in a 26-day-old full-term phenotypic female. On physical exam, the patient was found to have bilateral palpable inguinal masses which were suspected to be testicular tissue on ultrasound. Patient also had bilateral inguinal hernias, but otherwise there were no other concerning symptoms, and the remaining physical examination was overall unremarkable. Initial workup included a pelvic ultrasound that did not visualize a uterus or ovaries. In addition, genetic testing confirmed normal male genotype with 100% 46, on fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (CGH) was negative and did not reveal any copy number changes. Molecular testing was consistent with a diagnosis of androgen insensitivity syndrome with hemizygous pathogenic variant in the androgen receptor (AR) gene (deletion of Exon 2 of AR gene Xq12). This case highlights the importance of a high clinical suspicion of complete androgen insensitivity syndrome (CAIS) in a phenotypic female infant with inguinal hernias. To our knowledge, this is one of the earliest diagnoses of CAIS in a phenotypically female infant.

Treatment of hyperglycemia not associated with NAFLD improvement in children with type 2 diabetes mellitus.

Background and objectives: Nonalcoholic fatty liver disease (NAFLD) and type 2 diabetes mellitus (T2DM) have become public health problems in the pediatric population. However, the relationship between these two conditions is not well understood. The primary objective of this study was to assess whether treatment of hyperglycemia in obese, treatment-naive children with type 2 diabetes (T2DM) was associated with an improvement of surrogate markers of NAFLD. Materials and methods: This retrospective, longitudinal study included 151 obese children with a diagnosis of T2DM (Age: 14 ± 1 years, 72% female children, BMI: 98.6th percentile, and A1c: 10.3 ± 0.2%). Clinical/demographic information was collected before patients started any diabetes treatment and 1 and 3 years after starting metformin and/or insulin therapy. Results: Forty-eight patients (32%) had abnormal ALT/AST (i.e., >40 U/L), suggestive of NAFLD. After 1 year of therapy, there were no significant differences in plasma ALT among patients started on insulin, metformin, or combination: 5±4 vs. -10 ± 3 vs. -2±2 IU/L, respectively, P = .07. Of note, changes in plasma ALT were small, despite a significant reduction of A1c in patients prescribed insulin (alone or with metformin): -2.8 ± 1.0%, P = .01, and -2.7 ± 0.3%, P < .001, respectively. In line with this, no significant correlations were found between changes in A1c and plasma aminotransferases. In contrast, changes in plasma AST/ALT were more strongly associated with BMI changes (r = 0.32, P < .001, and r = 0.19, P = .04, respectively). Similar results were observed after 3 years of follow-up. Conclusions: Nonalcoholic fatty liver disease is highly prevalent in obese children with T2DM. Treatment of hyperglycemia with metformin and/or insulin did not result in any significant improvement in surrogate markers of NAFLD (i.e., plasma aminotransferases). While changes in ALT and/or AST may not perfectly reflect histological changes in NAFLD, our findings suggest that the treatment of hyperglycemia per se may not be associated with NAFLD improvement.

Association of Slipped Capital Femoral Epiphysis With Panhypopituitarism Due to Pituitary Macroadenoma: A Case Report.

Slipped capital femoral epiphysis (SCFE) commonly occurs in overweight or obese adolescents, but can also be associated with endocrine disorders including hypothyroidism, pituitary tumors, and growth hormone deficiency. In this article, we present a case of panhypopituitarism that initially presented with SCFE. A 16-year-old male presented with right SCFE. After a right hip open reduction and percutaneous pinning procedure, findings of skeletal maturity that lagged behind his chronologic age and a delayed Tanner stage resulted in a referral to an endocrine specialist. Endocrine laboratory evaluation identified elevated prolactin levels (1493 ng/mL), hypogonadotropic hypogonadism, and central adrenal insufficiency as evidenced by low morning cortisol level of 1.0 µg/dL. Magnetic resonance imaging revealed a large pituitary T2 isointense mass measuring 1.8 × 2.7 × 2.3 cm. The patient was diagnosed with panhypopituitarism due to a pituitary macroadenoma. Multidisciplinary collaboration for treatment of this patient consisted of oral cabergoline, oral levothyroxine, oral hydrocortisone therapy, intramuscular testosterone therapy, and a prophylactic closed reduction percutaneous pinning of the left hip due to high risk of also developing SCFE of the left hip. Panhypopituitarism should be considered as a diagnosis after atypical presentations of SCFE. In our case, an astute clinical assessment resulted in prompt endocrine referral and management of panhypopituitarism. Our report highlights the importance of multidisciplinary collaborations to guarantee early detection of endocrinopathies in patients with SCFE undergoing surgical interventions in order to avoid potential complications, such as adrenal crisis during surgery.

Transition Education for Young Adults With Type 1 Diabetes: Pilot Feasibility Study for a Group Telehealth Intervention.

BACKGROUND: Young adults with type 1 diabetes (T1D) experience a decline in glycemic outcomes and gaps in clinical care. A diabetes education and support program designed for young adults was delivered through group videoconference and mobile Web. OBJECTIVE: The objective of our study was to assess the feasibility, acceptability, and preliminary efficacy of the program as measured by attendance and webpage views, satisfaction, and pre- and postintervention psychosocial outcomes, respectively. METHODS: Young adults aged 18-25 years were recruited to attend five 30-minute group diabetes education videoconferences during an 8-week period. Videoconferences included an expert presentation followed by a moderated group discussion. Within 48 hours of each videoconference, participants were sent a link to more information on the study website. Feasibility was assessed using data on videoconference attendance and webpage views. Acceptability was assessed via a Satisfaction Survey completed at the conclusion of the study. Descriptive statistics were generated. Preliminary efficacy was assessed via a survey to measure changes in diabetes-specific self-efficacy and diabetes distress. Pre- and postintervention data were compared using paired samples t tests. RESULTS: In this study, 20 young adults (mean age 19.2 [SD 1.1] years) attended an average of 5.1 (SD 1.0) videoconferences equivalent to 153 (SD 30.6) minutes of diabetes education per participant during an 8-week period. Average participant satisfaction scores were 62.2 (SD 2.6) out of a possible 65 points. A total of 102 links sent via text message (short message service) or email resulted in 504 webpage views. There was no statistically significant difference between pre- and postintervention diabetes-specific self-efficacy or diabetes-related distress. CONCLUSIONS: Delivery of diabetes education via group videoconference using mobile Web follow-up is feasible and acceptable to young adults with T1D. This model of care delivery has the potential to improve attendance, social support, and patient-reported satisfaction. Nevertheless, further research is required to establish the effect on long-term psychosocial and glycemic outcomes.

Correlates of the metabolic syndrome among a sample of women in the San Juan Metropolitan area of Puerto Rico.

BACKGROUND: The metabolic syndrome is an interaction of risk factors that may lead to cardiovascular disease and type 2 diabetes. METHODS: Given the need for data in Puerto Rico, this cross-sectional study aimed to determine the association between demographic, lifestyles, and reproductive characteristics and the metabolic syndrome among a sample of women (N = 564) in the San Juan Metropolitan Area. The metabolic syndrome was defined based on the revised National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III) criteria. RESULTS: In multivariate logistic regression models, women aged 40-59 and 60-79 years were 3.03 [95% confidence interval (CI), 1.70, 5.40] and 7.05 (95% CI, 3.69, 13.49) times more likely, respectively, to have the metabolic syndrome as compared to those aged 21-39 years. A dose-response relationship was also observed between body mass index (BMI) and metabolic syndrome. Physical activity reduced the odds for metabolic syndrome [prevalence odds ratios (POR) = 0.64; 95% CI, 0.41, 1.01]; however, this association was marginally significant (P = 0.05). Among reproductive characteristics, only women who had a history of gestational diabetes (GDM) were 2.14 (95% CI, 1.02, 4.51) times more likely to have metabolic syndrome. CONCLUSIONS: Consistent with previous studies, increased age and BMI, physical inactivity, and GDM are associated with the metabolic syndrome in this population. This information is relevant for the development of preventive interventions for the metabolic syndrome.