Pediatric Endocrinology Research
Children’s is home to one of the leading pediatric endocrinology programs in Georgia.
Our team of advanced pediatric endocrinologists is committed to furthering research efforts that span the spectrum of endocrinology, from observation to early disease recognition and prevention. In conjunction with expert institutions such as Emory University School of Medicine, Georgia Institute of Technology and the Centers for Disease Control and Prevention (CDC), our team is committed to fostering new discoveries that aim to improve outcomes for all patients. Children’s Endocrinology Program specialists contribute to quality at the national scale, actively participating in innovative clinical trials that assess and advance solutions for endocrine-related conditions.
Collaborations
International Late Effects of Childhood Cancer Guideline Harmonization Group
Children’s Healthcare of Atlanta serves as a collaborator for the International Late Effects of Childhood Cancer Guideline Harmonization Group (IGHG), an organization that aims to establish a common vision and integrated strategy for the surveillance of chronic health problems and subsequent cancers in childhood, adolescent and young adult cancer survivors.
Specifically, Children’s endocrinologists collaborate on IGHG research efforts to provide recommendations on how to improve care for cancer survivors experiencing endocrine complications and endocrine late effects globally.
TrialNet
TrialNet is an international network dedicated to the study, prevention and early treatment of Type 1 diabetes. TrialNet sites are located throughout the United States, Canada, Finland, United Kingdom, Italy, Germany, Sweden, Australia and New Zealand. TrialNet is dedicated to testing new approaches to the prevention of and early intervention for Type 1 diabetes.
Emory Children’s Center, a joint center for Children’s Healthcare of Atlanta and Emory University, is one of 22 Type 1 diabetes TrialNet International Clinical Centers at the forefront of Type 1 diabetes research. Led by Andrew Muir, MD, the TrialNet team in Atlanta is dedicated to preventing Type 1 diabetes and stopping disease progression by preserving insulin production before and after diagnosis.
Some of our areas of interest for research include:
- Adrenal disorders
- Endocrine late effects
- Gender-affirming hormone therapy
- Growth Hormone Deficiency and growth disorders
- Hypoglycemia
- Prader-Willi Syndrome
- Thyroid disorders, including hyperthyroidism and hypothyroidism
- Turner syndrome
- Type 1 diabetes
- Type 2 diabetes
- Tyrosine kinase inhibitors
Helping Relieve Stress in Parents of Diabetic Children
New study finds fixed insulin dosing for a fixed range of carbohydrates less stressful for parents to learn and employ when initially taught diabetes management skills for their child with new-onset Type 1 diabetes.
read the study
Ghosh R, Malik M, Daley TC, Kasi AS. Images: Sleep-disordered breathing and hypoventilation in a child with obesity and hypothalamic dysfunction. J Clin Sleep Med. 2022 Jan 1;18(1):339-342. doi: 10.5664/jcsm.9636. PMID: 34534067; PMCID: PMC8807918.
- Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare and potentially lethal disorder of respiratory control, autonomic and hypothalamic dysfunction of unknown etiology. This study reports on a 15-year-old girl with ROHHAD who developed hyperphagia, rapid weight gain and cardiorespiratory arrest.
Gupta P, Keller SR, Patterson B. Recurrent episodes of vomiting and diarrhoea in a male child: a rare presentation of X-linked adrenoleukodystrophy. BMJ Case Rep. 2022 Aug 10;15(8):e249905. doi: 10.1136/bcr-2022-249905. PMID: 35948360; PMCID: PMC9379476.
- This study exhibits how primary adrenal insufficiency, presenting with recurrent episodes of vomiting and diarrhea in a male child specifically, should raise alarm for X-linked adrenoleukodystrophy (X-ALD).
Rhabdomyolysis due to rosuvastatin in a patient with ROHHAD syndrome
Vijayakanthi N, Felner EI, Romero R, Daley TC. Rhabdomyolysis due to rosuvastatin in a patient with ROHHAD syndrome. J Clin Lipidol. 2021 Nov-Dec;15(6):789-792. doi: 10.1016/j.jacl.2021.09.002. Epub 2021 Sep 10. PMID: 34600840.
- This study reports on a 13-year-old female with rapid-onset obesity, hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) syndrome, panhypopituitarism, dyslipidemia, Type 2 diabetes mellitus, and nonalcoholic fatty liver disease, who developed rhabdomyolysis and acute kidney injury, two weeks after switching from lovastatin to rosuvastatin.
Reyes Diaz JV, Jin Y, Garber K, Cossen KM, Li Y, Jin P, Li H, Ham JN. A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism. Am J Med Genet A. 2022 Aug;188(8):2429-2433. doi: 10.1002/ajmg.a.62843. Epub 2022 May 27. PMID: 35621279.
- This study presents a case of severe congenital hyperinsulinism which required a near-total pancreatectomy.
Russell WE, Bundy BN, Anderson MS, Cooney LA, Gitelman SE, Goland RS, Gottlieb PA, Greenbaum CJ, Haller MJ, Krischer JP, Libman IM, Linsley PS, Long SA, Lord SM, Moore DJ, Moore WV, Moran AM, Muir AB, Raskin P, Skyler JS, Wentworth JM, Wherrett DK, Wilson DM, Ziegler AG, Herold KC; Type 1 Diabetes TrialNet Study Group. Abatacept for Delay of Type 1 Diabetes Progression in Stage 1 Relatives at Risk: A Randomized, Double-Masked, Controlled Trial. Diabetes Care. 2023 Mar 15:dc222200. doi: 10.2337/dc22-2200. Epub ahead of print. PMID: 36920087.
- Previous studies showed that inhibiting lymphocyte costimulation reduces declining β-cell function in individuals newly diagnosed with Type 1 diabetes. This study tested whether abatacept would delay or prevent progression of Type 1 diabetes from normal glucose tolerance to abnormal glucose tolerance or to diabetes and the effects of treatment on immune and metabolic responses.
Laffel LM, Danne T, Klingensmith GJ, Tamborlane WV, Willi S, Zeitler P, Neubacher D, Marquard J; DINAMO Study Group. Efficacy and safety of the SGLT2 inhibitor empagliflozin versus placebo and the DPP-4 inhibitor linagliptin versus placebo in young people with Type 2 diabetes (DINAMO): a multicentre, randomised, double-blind, parallel group, phase 3 trial. Lancet Diabetes Endocrinol. 2023 Mar;11(3):169-181. doi: 10.1016/S2213-8587(22)00387-4. Epub 2023 Feb 1. PMID: 36738751.
- This study aimed to assess the efficacy and safety of an empagliflozin dosing regimen versus placebo and linagliptin versus placebo on glycaemic control in young people with Type 2 diabetes.
Birth Cohorts in Type 1 Diabetes: Preparing for the Payoff
Cossen K, Muir A. Birth Cohorts in Type 1 Diabetes: Preparing for the Payoff. J Clin Endocrinol Metab. 2021 Jan 23;106(2):e1044-e1045. doi: 10.1210/clinem/dgaa736. PMID: 33159437.
Ross JJ, Wasserfall CH, Bacher R, Perry DJ, McGrail K, Posgai AL, Dong X, Muir A, Li X, Campbell-Thompson M, Brusko TM, Schatz DA, Haller MJ, Atkinson MA. Exocrine Pancreatic Enzymes Are a Serological Biomarker for Type 1 Diabetes Staging and Pancreas Size. Diabetes. 2021 Apr;70(4):944-954. doi: 10.2337/db20-0995. Epub 2021 Jan 13. PMID: 33441381; PMCID: PMC7980193.
Williams MD, Bacher R, Perry DJ, Grace CR, McGrail KM, Posgai AL, Muir A, Chamala S, Haller MJ, Schatz DA, Brusko TM, Atkinson MA, Wasserfall CH. Genetic Composition and Autoantibody Titers Model the Probability of Detecting C-Peptide Following Type 1 Diabetes Diagnosis. Diabetes. 2021 Apr;70(4):932-943. doi: 10.2337/db20-0937. Epub 2021 Jan 8. PMID: 33419759; PMCID: PMC7980194.
- Its has been previously demonstrated that a Type 1 diabetes genetic risk score (GRS) improves the ability to predict disease progression and onset in at-risk subjects with islet autoantibodies. Here, we hypothesized that GRS and islet autoantibodies, combined with age at onset and disease duration, could serve as markers of residual β-cell function following Type 1 diabetes diagnosis.
Golimumab and Beta-Cell Function in Youth with New-Onset Type 1 Diabetes
Quattrin T, Haller MJ, Steck AK, Felner EI, Li Y, Xia Y, Leu JH, Zoka R, Hedrick JA, Rigby MR, Vercruysse F; T1GER Study Investigators. Golimumab and Beta-Cell Function in Youth with New-Onset Type 1 Diabetes. N Engl J Med. 2020 Nov 19;383(21):2007-2017. doi: 10.1056/NEJMoa2006136. PMID: 33207093.
Islam N, Nash R, Zhang Q, Panagiotakopoulos L, Daley T, Bhasin S, Getahun D, Sonya Haw J, McCracken C, Silverberg MJ, Tangpricha V, Vupputuri S, Goodman M. Is There a Link Between Hormone Use and Diabetes Incidence in Transgender People? Data From the STRONG Cohort. J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1549-e1557. doi: 10.1210/clinem/dgab832. PMID: 34850912; PMCID: PMC8947226.
- Researchers used data from an electronic health record-based cohort to assess the risk of Type 2 diabetes mellitus in transgender and gender diverse persons.
Messer LH, Buckingham BA, Cogen F, Daniels M, Forlenza G, Jafri RZ, Mauras N, Muir A, Wadwa RP, White PC, Russell SJ, Damiano ER, El-Khatib FH, Ruedy KJ, Balliro CA, Li Z, Marak MC, Calhoun P, Beck RW. Positive Impact of the Bionic Pancreas on Diabetes Control in Youth 6-17 Years Old with Type 1 Diabetes: A Multicenter Randomized Trial. Diabetes Technol Ther. 2022 Oct;24(10):712-725. doi: 10.1089/dia.2022.0201.pub. PMID: 36173237; PMCID: PMC9529304.
- This study evaluated the insulin-only configuration of the iLet® bionic pancreas (BP) in youth 6-17 years old with Type 1 diabetes.
Voss MG, Cuthbertson DD, Cleves MM, Xu P, Evans-Molina C, Palmer JP, Redondo MJ, Steck AK, Lundgren M, Larsson H, Moore WV, Atkinson MA, Sosenko JM, Ismail HM; DPT-1 and TrialNet Study Groups. Time to Peak Glucose and Peak C-Peptide During the Progression to Type 1 Diabetes in the Diabetes Prevention Trial and TrialNet Cohorts. Diabetes Care. 2021 Oct;44(10):2329-2336. doi: 10.2337/dc21-0226. Epub 2021 Aug 6. PMID: 34362815; PMCID: PMC8740940.
- This study assessed the progression of Type 1 diabetes using time to peak glucose or C-peptide during oral glucose tolerance tests (OGTTs) in autoantibody-positive relatives of people with Type 1 diabetes.
Endocrine Sequelae in Childhood Cancer Survivors
George SA, Effinger KE, Meacham LR. Endocrine Sequelae in Childhood Cancer Survivors. Endocrinol Metab Clin North Am. 2020 Dec;49(4):565-587. doi: 10.1016/j.ecl.2020.07.001. Epub 2020 Oct 13. PMID: 33153668.
- This article reviews the association between cancer treatments and endocrine late effects. It also summarizes recommendations regarding surveillance for endocrine late effects and referrals to endocrinologists based on treatment exposures. In addition, this article provides special considerations for the treatment of endocrinopathies in survivors.
Features Associated With Weight Loss and Growth Stunting for Young Children During Cancer Therapy
Runco DV, Wasilewski-Masker K, Mazewski CM, Patterson BC, Mertens AC. Features Associated With Weight Loss and Growth Stunting for Young Children During Cancer Therapy. J Pediatr Hematol Oncol. 2021 Nov 1;43(8):301-307. doi: 10.1097/MPH.0000000000002246. PMID: 34133373; PMCID: PMC9580507.
- We aimed to better understand characteristics associated with weight-for-height (WHZ) and height-for-age (HAZ) changes for infants and young children during cancer treatment.
Segev N, Arora S, Khoury J, Yayah Jones NH, Chuang J. Frequency and Severity of Hypothyroidism During TKI Therapy in the Pediatric and Young Adult Population. J Pediatr Hematol Oncol. 2022 Oct 1;44(7):e964-e967. doi: 10.1097/MPH.0000000000002527. Epub 2022 Aug 10. PMID: 35973039.
- This retrospective study is the first to document frequency and severity of Tyrosine kinase inhibitors that target vascular endothelial growth factor receptor [VEGFR-TKI] -induced hypothyroidism in pediatric and young adult patients.
Growth Hormone Deficiency and Growth Hormone Replacement in Childhood Cancer Survivors
Patterson BC, Meacham LR. Growth Hormone Deficiency and Growth Hormone Replacement in Childhood Cancer Survivors. Front Horm Res. 2021;54:25-35. doi: 10.1159/000515111. Epub 2021 Apr 30. PMID: 33934095.
- This chapter discusses considerations in the diagnosis and treatment of Growth Hormone Deficiency in childhood cancer survivors and discusses long-term outcomes in survivors of childhood cancer who have Growth Hormone Deficiency.
Gupta P, Loechner K, Patterson BC, Felner E. Insulinoma in an adolescent female with weight loss: a case report and literature review on pediatric insulinomas. Endocrinol Diabetes Metab Case Rep. 2022 Mar 1;2022:21-0206. doi: 10.1530/EDM-21-0206. Epub ahead of print. PMID: 35264462; PMCID: PMC8942319.
- Insulinomas are a rare cause of persistent hypoglycemia in a previously healthy child. In addition to symptoms of hypoglycemia, individuals with insulinomas usually present with a history of incessant caloric intake and weight gain due to a constant need to counter hypoglycemia. In addition to an extensive review of the literature, this study reports the first case of an insulinoma coexisting with reduced appetite secondary to anorexia nervosa in an adolescent female.
Runco DV, Wasilewski-Masker K, McCracken CE, Wetzel M, Mazewski CM, Patterson BC, Mertens AC. Normalized measures and patient characteristics to identify undernutrition in infants and young children treated for cancer. Clin Nutr ESPEN. 2020 Aug;38:185-191. doi: 10.1016/j.clnesp.2020.05.005. Epub 2020 Jun 2. PMID: 32690155; PMCID: PMC7975630.
Very late recurrence of B-cell acute lymphoblastic leukemia masquerading as a pituitary tumor
Fridlyand DM, Keller FG, Sabnis HS, Patterson BC, Gadde JA, Peragallo JH, Biousse V, Wechsler DS. Very late recurrence of B-cell acute lymphoblastic leukemia masquerading as a pituitary tumor. Pediatr Hematol Oncol. 2020 Aug;37(5):438-444. doi: 10.1080/08880018.2020.1751754. Epub 2020 Apr 16. PMID: 32299275.
- Involvement of the pituitary gland by leukemic infiltration is exceedingly rare. This study describes a very late recurrence of B-cell acute lymphoblastic leukemia masquerading as a pituitary tumor and review the literature for previously reported cases.
Vijayakanthi N, Marcus DJ, Fritz SP, Xiang Y, Fadoju D. Body Image, Self-perception, and Satisfaction Among Girls With Turner Syndrome: A Prospective Cross-sectional Study. J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1382-e1389. doi: 10.1210/clinem/dgab889. PMID: 34893832.
- This study aimed to evaluate body image, self-perception, and satisfaction among girls with TS using the Multi-Dimensional Body Image Self Relations Questionnaire-Appearance Scale (MBSRQ-AS).
Case report of a Hispanic female with cystic fibrosis and short stature
Wu M, Daley T, Fadoju D. Case report of a Hispanic female with cystic fibrosis and short stature. Respir Med Case Rep. 2022 Aug 12;39:101726. doi: 10.1016/j.rmcr.2022.101726. PMID: 36043196; PMCID: PMC9420504.
- This study examines as a case report a 10-year-old female with cystic fibrosis (CF) and Turner syndrome to highlight poor growth velocity and extreme short stature as expected comorbidities of CF.
Dowlut-McElroy T, Davis S, Howell S, Gutmark-Little I, Bamba V, Prakash S, Patel S, Fadoju D, Vijayakanthi N, Haag M, Hennerich D, Dugoff L, Shankar RK. Cell-free DNA screening positive for monosomy X: clinical evaluation and management of suspected maternal or fetal Turner syndrome. Am J Obstet Gynecol. 2022 Dec;227(6):862-870. doi: 10.1016/j.ajog.2022.07.004. Epub 2022 Jul 13. PMID: 35841934; PMCID: PMC9729468.
- This study aimed to provide context and expert-driven recommendations for maternal and/or fetal evaluation and management when cell-free DNA screening is positive for monosomy X. This study highlights unique challenges of cell-free DNA screening that is incidentally positive for monosomy X, present recommendations for determining if the result is a true-positive, and discuss when diagnosis of Turner syndrome is applicable to the fetus vs the mother.
George SA, Lai KW, Lewis RW, Bryson EW, Haight AE, Meacham LR. Comparison of Anti-Mullerian Hormone Levels Pre- and Post-Hematopoietic Cell Transplantation in Pediatric and Adolescent Females with Sickle Cell Disease. Transplant Cell Ther. 2022 Nov;28(11):770.e1-770.e6. doi: 10.1016/j.jtct.2022.08.014. Epub 2022 Aug 20. PMID: 35995392.
- The present study was conducted to assess ovarian reserve and function before and after transplantation in pediatric and adolescent females with SCD treated with allogeneic HCT between January 2015 and June 2020 at Children's Healthcare of Atlanta.
Miller JL, Gevers E, Bridges N, Yanovski JA, Salehi P, Obrynba KS, Felner EI, Bird LM, Shoemaker AH, Angulo M, Butler MG, Stevenson D, Abuzzahab J, Barrett T, Lah M, Littlejohn E, Mathew V, Cowen NM, Bhatnagar A. Diazoxide Choline Extended-Release Tablet in People with Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial. J Clin Endocrinol Metab. 2023 Jan 14:dgad014. doi: 10.1210/clinem/dgad014. Epub ahead of print. PMID: 36639249.
A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism
Keane OA, Bai S, Cossen K, Patterson BC, Prickett KK, Heiss KF, Santore MT. Outcomes in pediatric total thyroidectomy following implementation of a two-surgeon operative approach. Int J Pediatr Otorhinolaryngol. 2023 Jan;164:111402. doi: 10.1016/j.ijporl.2022.111402. Epub 2022 Nov 23. PMID: 36436318.
- This study examines the effect of a two-surgeon operative approach on outcomes in pediatric total thyroidectomy.
Keane OA, Bai S, Cossen K, Patterson BC, Prickett KK, Heiss KF, Santore MT. Predictive value of 6 h postoperative parathyroid hormone level on permanent hypoparathyroidism in pediatric total thyroidectomy: a pilot study. J Pediatr Endocrinol Metab. 2023 Jan 11. doi: 10.1515/jpem-2022-0633. Epub ahead of print. PMID: 36622842.
- This study aims to identify pediatric patients who are at high risk of PH following thyroidectomy based on 6 h post-operative parathyroid hormone (PTH) value.
Cossen K, Santore MT, Prickett KK, Goudy SL, Heiss KF, Shanker K, Alazraki AL, Patterson BC. Unexpected Benefits in Single Institution Experience With Successful Implementation of a Standardized Perioperative Protocol in Pediatric Thyroidectomy. Pediatr Qual Saf. 2022 Jun 14;7(3):e568. doi: 10.1097/pq9.000000000000056 8. PMID: 35720874; PMCID: PMC9197358.
- This study compared a retrospective review of perioperative management and outcomes of baseline 122 pediatric total thyroidectomies to 121 subsequent total thyroidectomies managed by an Electronic Medical Record protocol in a large, free-standing children’s healthcare system.
