Professional Education

  • B.S., Yale College (2019)
  • M.D., Harvard Medical School (2024)

All Publications

  • A case of neonatal sweet syndrome associated with mevalonate kinase deficiency PEDIATRIC RHEUMATOLOGY Irwin, M., Tanawattanacharoen, V. K., Turner, A., Son, M. F., Hale, R. C., Platt, C. D., Putra, J., Schmidt, B. R., Wasserman, M. G. 2023; 21 (1): 101

    Abstract

    Sweet syndrome (SS), also known as acute febrile neutrophilic dermatosis, is an immunologic syndrome characterized by widespread neutrophilic infiltration. Histiocytoid Sweet syndrome (H-SS) is a histopathologic variant of SS. While SS most commonly occurs in adults, this case report discusses an infant patient who presented with H-SS.Through a multidisciplinary approach, this patient was also found to have very early onset inflammatory bowel disease (VEO-IBD) and Mevalonate kinase-associated disease (MKAD). While prior case studies have characterized an association between VEO-IBD and MKAD, there is no literature describing the association of all three diagnoses this case: H-SS, VEO-IBD and MKAD. Initiation of canakinumab in this patient resulted in successful control of the disease.This case highlights the importance of a multidisciplinary approach to rare diagnoses, and collaboration during cases with significant diagnostic uncertainty.

    View details for DOI 10.1186/s12969-023-00887-8

    View details for Web of Science ID 001066208500003

    View details for PubMedID 37700301

    View details for PubMedCentralID PMC10496215

  • Electrolyte abnormalities and stress dosing predict illness-related hospitalizations among infants and toddlers with congenital adrenal hyperplasia CLINICAL ENDOCRINOLOGY Tseng, T., Seagroves, A., Tanawattanacharoen, V. K., Liang, M. C., Koppin, C. M., Keenan, M., Davidowitz, E., Nguyen, E., Chand, S., Geffner, M. E., Chang, T. P., Kim, M. S. 2023; 98 (4): 536-542

    Abstract

    Infants and toddlers with classical congenital adrenal hyperplasia (CAH) are at high risk for morbidity/mortality arising from life-threatening adrenal crisis. Management of acute illnesses in CAH requires an understanding of factors leading to emergency department (ED) visits and hospitalizations in the first few years of life. We, therefore, examined adrenal crisis at prehospital and ED stages of illness in young children with CAH as they related to medical outcomes.Retrospective cohort study of 39 children with CAH due to 21-hydroxylase deficiency (0-4 years of age) and 27 age-matched controls.ED visit, acute illness symptoms (fever, vomiting, diarrhoea) and other characteristics (hospitalizations, administration of stress-dose hydrocortisone, electrolyte abnormalities).CAH infants and toddlers had significantly higher rates of ED visits (0.50 [0.25-0.88] per person-year) than controls (0 [0-0] per person-year; p < .001). Moreover, CAH children under 6 months old had significantly higher rates of ED visits compared with older ages. Only 50% (51/102) of illness-related ED visits in CAH children were preceded by the administration of either oral (46/51) or intramuscular (11/51) stress dosing by parents. A total of 10.8% of ED visits resulted in hospital admission. Controlling for age and 17-hydroxyprogesterone at diagnosis, electrolyte abnormalities and administration of parenteral hydrocortisone in the ED significantly predicted hospital admission. Receiving a hydrocortisone injection before the ED was a significant predictor of having electrolyte abnormalities.Infants and toddlers with classical CAH are at high risk for acute illness and hospitalizations and often do not receive adequate stress dosing before the ED.

    View details for DOI 10.1111/cen.14876

    View details for Web of Science ID 000912670000001

    View details for PubMedID 36593179

    View details for PubMedCentralID PMC10006318

  • Low Adrenomedullary Function Predicts Acute Illness in Infants With Classical Congenital Adrenal Hyperplasia JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM Weber, J., Tanawattanacharoen, V. K., Seagroves, A., Liang, M. C., Koppin, C. M., Ross, H. M., Bachega, T. S., Geffner, M. E., Serrano-Gonzalez, M., Bhullar, G., Kim, M. S. 2022; 107 (1): E264-E271

    Abstract

    Youth with classical congenital adrenal hyperplasia (CAH) exhibit abnormal adrenomedullary function with decreased epinephrine levels noted in newborns and young infants. Little is known about how this relates to morbidity during the first year of life.This work aimed to study plasma epinephrine levels in infants with classical CAH and examine the clinical significance of epinephrine deficiency in the first year of life.This prospective cohort study comprised participants recruited from a pediatric tertiary care center: 36 infants with classical CAH due to 21-hydroxylase deficiency and 27 age-matched unaffected controls with congenital hypothyroidism. Main outcome measures included plasma epinephrine levels (N = 27), CYP21A2 genotype (N = 15), and incidence of acute illnesses from birth to age 1 year (N = 28).Epinephrine levels in CAH infants independently predicted illness incidence in the first year of life (β = -0.018, R = -0.45, P = .02) and were negatively correlated with 17-hydroxyprogesterone at diagnosis (R = -0.51, P = .007). Infants with salt-wasting CAH exhibited lower epinephrine levels as newborns than simple-virilizing infants (P = .02). CAH patients had lower epinephrine as newborns than did controls (P = .007) and showed decreases in epinephrine from birth to age 1 year (P = .04). Null genotype was associated with lower newborn epinephrine and more illness in the first year of life, compared to less severe mutation categories.Lower epinephrine levels are associated with increased risk of illness among CAH infants. While not currently part of clinical standard of care, measuring epinephrine levels and assessing genotype may help predict acute illness in the first year of life.

    View details for DOI 10.1210/clinem/dgab600

    View details for Web of Science ID 000753143500044

    View details for PubMedID 34397083

    View details for PubMedCentralID PMC8826013

  • Early Adiposity Rebound Predicts Obesity and Adiposity in Youth with Congenital Adrenal Hyperplasia HORMONE RESEARCH IN PAEDIATRICS Bhullar, G., Tanawattanacharoen, V. K., Yeh, M. Y., Kim, W. S., Vidmar, A. P., Geffner, M. E., Hwang, D. H., Kim, M. S. 2021; 93 (11-12): 609-615

    Abstract

    Youth with classical congenital adrenal hyperplasia (CAH) have higher prevalence of cardiometabolic risk factors such as obesity, abdominal adiposity, and hypertension. Patients with CAH also exhibit an earlier adiposity rebound (AR) compared to normative populations. However, the predictive relationship between AR and cardiometabolic risk factors needs to be better understood.We performed a retrospective cohort study at a US tertiary pediatric center in youth with classical CAH due to 21-hydroxylase deficiency. AR was determined by cubic polynomial modeling. A subset of participants had fasting analytes, whole-body dual-energy X-ray absorptiometry, and magnetic resonance imaging as adolescents.In 42 youth with CAH (45.2% female, 54.8% Hispanic, and 90.5% salt-wasting form), the average age at AR was 3.4 ± 1.3 years. AR differed by BMI-z, with youth with obesity having an earlier AR (2.8 ± 1.0 years) compared to lean youth (4.1 ± 1.3 years, p = 0.001). However, AR did not differ by either CAH form or sex. Earlier AR predicted higher BMI-z at 7 and 12 years of age. In addition, earlier AR predicted increased central obesity (as measured by waist circumference, subcutaneous adipose tissue, and trunk fat) and total body fat in adolescence. AR was negatively correlated with bone age, and its relationships with HDL and hypertension were trending towards significance.AR in youth with classical CAH could serve as a useful clinical marker to identify those patients who are at higher risk for developing cardiometabolic risk factors during childhood and adolescence.

    View details for DOI 10.1159/000514130

    View details for Web of Science ID 000627429300001

    View details for PubMedID 33691315

    View details for PubMedCentralID PMC8159886

  • Assessment of Facial Morphologic Features in Patients With Congenital Adrenal Hyperplasia Using Deep Learning JAMA NETWORK OPEN AbdAlmageed, W., Mirzaalian, H., Guo, X., Randolph, L. M., Tanawattanacharoen, V. K., Geffner, M. E., Ross, H. M., Kim, M. S. 2020; 3 (11): e2022199

    Abstract

    Congenital adrenal hyperplasia (CAH) is the most common primary adrenal insufficiency in children, involving excess androgens secondary to disrupted steroidogenesis as early as the seventh gestational week of life. Although structural brain abnormalities are seen in CAH, little is known about facial morphology.To investigate differences in facial morphologic features between patients with CAH and control individuals with use of machine learning.This cross-sectional study was performed at a pediatric tertiary center in Southern California, from November 2017 to December 2019. Patients younger than 30 years with a biochemical diagnosis of classical CAH due to 21-hydroxylase deficiency and otherwise healthy controls were recruited from the clinic, and face images were acquired. Additional controls were selected from public face image data sets.The main outcome was prediction of CAH, as performed by machine learning (linear discriminant analysis, random forests, deep neural networks). Handcrafted features and learned representations were studied for CAH score prediction, and deformation analysis of facial landmarks and regionwise analyses were performed. A 6-fold cross-validation strategy was used to avoid overfitting and bias.The study included 102 patients with CAH (62 [60.8%] female; mean [SD] age, 11.6 [7.1] years) and 59 controls (30 [50.8%] female; mean [SD] age, 9.0 [5.2] years) from the clinic and 85 controls (48 [60%] female; age, <29 years) from face databases. With use of deep neural networks, a mean (SD) AUC of 92% (3%) was found for accurately predicting CAH over 6 folds. With use of classical machine learning and handcrafted facial features, mean (SD) AUCs of 86% (5%) in linear discriminant analysis and 83% (3%) in random forests were obtained for predicting CAH over 6 folds. There was a deviation of facial features between groups using deformation fields generated from facial landmark templates. Regionwise analysis and class activation maps (deep learning of regions) revealed that the nose and upper face were most contributory (mean [SD] AUC: 69% [17%] and 71% [13%], respectively).The findings suggest that facial morphologic features in patients with CAH is distinct and that deep learning can discover subtle facial features to predict CAH. Longitudinal study of facial morphology as a phenotypic biomarker may help expand understanding of adverse lifespan outcomes for patients with CAH.

    View details for DOI 10.1001/jamanetworkopen.2020.22199

    View details for Web of Science ID 000595662800002

    View details for PubMedID 33206189

    View details for PubMedCentralID PMC7675110

  • Piloting a food photo sorting activity in Samoa to assess maternal beliefs and their role in child diet MATERNAL AND CHILD NUTRITION Tanawattanacharoen, V. K., Choy, C. C., Anesi, T. J., Naseri, T., Soti-Ulberg, C., Reupena, M. S., Hawley, N. L. 2020; 16 (3): e12974

    Abstract

    Eating habits begin forming early in life when parental beliefs and behaviours often play a major role in shaping dietary intake. We aimed to assess maternal beliefs about the cost, social status, and nutritional value of foods in Samoa-a setting with an alarming burden of childhood obesity-and to determine how those beliefs may be related to child dietary intake. Samoan mothers (n = 44) sorted photographs of 26 foods commonly consumed in children in Samoa by cost, social status, and nutritional value (healthfulness). Responses were then assessed for their association with child dietary intake (reported using a food frequency questionnaire) using Pearson correlations. Mothers indicated that traditional Samoan foods were healthier, of higher social status, and lower cost compared with non-traditional/imported food items. Compared with nutritional experts and a market survey of food prices, mothers demonstrated strong nutritional (r = .87, 95% CI [0.68, 0.95], p < .001) and consumer (r = .84, 95% CI [0.68, 0.93], p < .001) knowledge. The perceived cost of food was more strongly associated (r = -.37, 95% CI [-0.66, 0.02], p = .06) with child dietary intake than either healthfulness or social status, with decreasing consumption reported with increasing food cost. Our findings contradicted the notion that the high social status of imported foods may be contributing to increased intake and rising prevalence of childhood obesity in this developing country setting. Despite their nutritional knowledge, Samoan mothers may need additional support in applying their knowledge/beliefs to provide a healthy child diet, including support for access to reasonably priced healthy foods.

    View details for DOI 10.1111/mcn.12974

    View details for Web of Science ID 000513196300001

    View details for PubMedID 32056393

    View details for PubMedCentralID PMC7296816