Browsing by Author "Frontera, Eric D."

Now showing 1 - 3 of 3
  • Thumbnail Image
    Item
    Dual Heterozygous Mutations in CYP21A2 and CYP11B1 in a Case of Nonclassic Congenital Adrenal Hyperplasia
    (Elsevier, 2022-10-21) Frontera, Eric D.; Brown, Joshua J.; Ghareebian, Hagop; Mariash, Cary; Medicine, School of Medicine
    Background/objective: Nonclassic congenital adrenal hyperplasia (NCCAH) may be overlooked or mistaken for polycystic ovarian syndrome. Unlike congenital adrenal hyperplasia (CAH), the enzymatic activities of 21-hydroxylase or 11β-hydroxylase in NCCAH are not completely lost. In this case, NCCAH presented in a patient with CYP21A2 and CYP11B1 heterozygous mutations, one of which is a variant of unknown significance in CYP11B1. Case report: A 30-year-old woman presented with a chief complaint of irregular menses and hirsutism. Previous medical history was significant for a prolactin level of 34.7 ng/mL (reference range, 2.0-23.0 ng/mL), a total serum testosterone level of 77 ng/dL (reference range, 25-125 ng/dL, not sex-specific), and a 2-mm × 3-mm pituitary lesion. An adrenocorticotrophic hormone stimulation test increased the 17-hydroxyprogesterone level from 444 ng/dL at baseline to 837 ng/dL at 60 minutes (baseline female reference range and stimulated reference ranges are 10-300 ng/dL and <1000 ng/dL, respectively). Gene sequencing revealed a heterozygous pathogenic CYP21A2 variant and a heterozygous, previously undescribed variant of unknown significance in CYP11B1. Discussion: Unlike CAH, NCCAH presents more subtly and later in life, and salt wasting and hypertension are not typically seen. Although mutations in CYP11B1 that cause steroid 11β-hydroxylase deficiency more commonly lead to the CAH phenotype, cases have been reported of CYP11B1 mutations leading to NCCAH, depending on the location of the mutations. Conclusion: This patient's case demonstrates physical examination and laboratory findings suggestive of NCCAH. Our case adds to the database of described mutations in CYP11B1 and suggests that heterozygous mutations in 2 different genes may present phenotypically as NCCAH.
  • Thumbnail Image
    Item
    Health Care Disparities in Outpatient Diabetes Management During the Coronavirus Disease 2019 Pandemic: Where Do We Stand Now?
    (Elsevier, 2023) Frontera, Eric D.; Cavagahan, Melissa K.; Carter, Allie; Saeed, Zeb I.; Medicine, School of Medicine
    Objective: We examined diabetes outpatient management during the first 2 years of the Coronavirus Disease 2019 pandemic in an endocrinology practice with a focus on health care disparities in outcomes. Methods: We conducted a retrospective cohort study examining adults with diabetes during 3 time periods: T1 (March 2019-February 2020), T2 (March 2020-February 2021), and T3 (March 2021-February 2022). Clinical outcomes included body mass index (BMI), systolic blood pressure (SBP), Hemoglobin A1c (HgbA1c), low-density lipoprotein cholesterol (LDL), and urine albumin:creatinine ratio. Appointment types (virtual vs in-person) were also collected. Results: Frequencies of HgbA1c, BMI, and SBP measurements reduced by 36.0%, 46.3%, and 48.5% in T2, respectively, and remaining 8.7% (HgbA1c), 13.4% (BMI), and 15.2% (SBP) lower at the end of the study period (P < .001) compared to prepandemic levels. However, the average HgbA1c and LDL slightly improved. Clinic appointments per patient increased during the pandemic, fueled by telehealth utilization. Women had fewer in-person visits during T2, those older than 65 had better HgbA1c, and the most socioeconomically deprived group had the worst HgbA1c during every time period. In addition, black patients had worse HgbA1c, LDL, and SBP values throughout the study, which did not worsen over the pandemic. Conclusion: While the frequency of health measurements had not fully recovered 2 years into the pandemic, this did not translate to worse diabetes management or a widening of pre-existing disparities. Our study emphasizes the role of equitable health care in minimizing inequalities in diabetes, particularly during times of crisis.
  • Thumbnail Image
    Item
    THU329 Healthcare Disparities In Diabetes Management During The COVID-19 Pandemic
    (Oxford University Press, 2023-10-05) Frontera, Eric D.; Cavaghan, Melissa Kathleen; Ijaz Saeed, Zeb; Graduate Medical Education, School of Medicine
    Aim: Healthcare disparities in diabetes and COVID-19 have been described, but the impact of COVID-19 on diabetes management based on sex, age, race and socioeconomic status is less known. This study examines impact on diabetes care during the two years of the pandemic in an academic endocrinology practice while assessing for disparities. Methods: A retrospective cohort study was conducted in adult patients with diabetes being managed during the pandemic by our endocrinology group. Gender, age, race, and social deprivation index (SDI) were compared between three time periods ( T1= March 2019- Feb 2020; T2= March 2020 to Feb 2021; T3= March 2021 to Feb 2022) to test for differences in clinical outcomes and frequency of care checks using chi-square test and generalized linear mixed models. Results: Our cohort included of 4909 patients, 46.2% were females, 73.2% were white, and 32% were older than 65 years. The median (IQR) SDI was 45 (17-79), and nearly half (48.1%) of the patients were on Medicare or Medicaid. Our results showed that during the first year of pandemic (T2), the frequencies of Hemoglobin A1c (A1c) checks and BMI measurements fell by 36% and 47%, respectively (p <0.001). These rates recovered mostly in T3; A1c checks remained 8% lower (p<0.001), and BMI 13% lower (p = 0.01) than pre-pandemic levels. Similarly, there was a 14.3% reduction in LDL checks during T2 which did recover in our study period (p = 0.001). Urine microalbumin (ACR) rates did not drop during the study period. Other than the frequency of BMI checks, there was no difference in the frequency of care checks between different sex, race, age, or SDI groups. Women had less BMI checks and in person visits in T2 . The overall cohort averages through the pandemic of Systolic Blood Pressure (SBP) , ACR and BMI remained stable while A1C and LDL decreased during the study period. Blacks had persistently higher average A1C, SBP, BMI, and LDL values through all three study times. While these disparities persisted throughout the pandemic, they did not worsen. The average number of clinic visits per person during the study period did not drop during T2 and increased by 7.6% in T3 compared to T1 which was driven by a dramatic increase in virtual appointment (from none to 1.71 per person in T2) (p<0.001). There was no subgroup variation in clinic visits and types. Conclusion: Our study examined the impact of COVID-19 on ambulatory visits, and health maintenance in patients with diabetes seen at a large endocrinology practice. Compared to pre-pandemic, we showed that overall, the frequency of most diabetes-related healthcare checks decreased and continued to be lower than expected two years into the pandemic. However, these changes did not translate into worse diabetes control and management in our cohort. Moreover, our data highlighted important disparities in health outcomes already present in our patient population prior to the pandemic.