International guidelines for the diagnosis and management of hyperinsulinism

We are excited to share that our recent manuscript has been published in Hormone Research in Pediatrics.

Download it here! Hyperinsulinism Center

Cook Children's Hyperinsulinism Center

Care coordinators: 682-303-1380

Choosing our program

Hyperinsulinism research

Located in Fort Worth, Texas, Cook Children's is blazing new trails in treating and curing hyperinsulinism (HI) for children across the nation and around the globe. And we're thrilled to share that the future is looking brighter than ever for children and their families who are facing this diagnosis. In the past, saying the word 'cure' in relation to hyperinsulinism was only a dream. Now that we can offer the investigational new drug 18F DOPA combined with a PET-CT scan to more accurately diagnose and treat HI, a cure has become a reality. But we won't stop here. Our team is constantly looking for ways to cure more patients, and help you with your most difficult cases.

Led by Dr. Paul Thornton, one the most recognized and respected HI specialists here and around the world, Cook Children's offers one of only 2 full-service HI centers in the U.S. This is important because it means that the families who come to Cook Children's can trust the expertise of our staff.

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It is my privilege to present Cook Children's Hyperinsulinism Center, one of only two of its kind in the country. At Cook Children's, our congenital hyperinsulinism (HI) team is dedicated to providing the very best care to patients and families facing this rare diagnosis.

Dr. Paul Thornton - Cook Children's Health Care System, Ft. Worth, TX

Choosing Cook Children's Hyperinsulinism Program

Having a newborn, child or even young adult patient with complex HI dilemmas can be very frustrating. Learning that one of the world's most respected congenital hyperinsulinism centers is right here at Cook Children's can be a life-saving moment for a child.

Hyperinsulinism is the most common cause of hypoglycemia (low blood sugar) in infants more than 3 days old. If this rare, and often severe, genetic disorder is not treated, these children are at risk for seizures or even permanent brain damage. Finding the right care is very important in preventing irreversible damage and improving quality of life. The medical professionals here at Cook Children's Hyperinsulinism Center have spent additional years of intense study and have dedicated their practice to focusing on hyperinsulinism. That means your patient has access to the best care available.

We have a state-of-the-art congenital hyperinsulinism program including PET-scan utilizing 18F DOPA (administered under an experimental IND). To date, we have cured more than 90% of our patients with focal disease. We've had no major hospital acquired conditions and our median length of stay for focal patients is 21 days and for diffuse it's 31 days.

It's this level of treatment that has helped earn our center a distinguished national and international reputation for extraordinary care and achieving positive results.

Call for referrals: 682-303-1380 Referral algorithm Outcomes Download brochure

Partnering with you

From the moment you contact our Hyperinsulinism Center, you'll feel the commitment of our team. We believe that the best patient outcomes start with building strong working relationships with all of the child's caregivers, including you. When you refer a patient to our center, you can trust that we'll not only keep you well informed, we'll include you as part of our team. We want and respect your involvement at every stage of the patient's care. You'll stay informed via our physician portal, and weekly phone or teleconferences.

When it's nearing time for your patient to return home we'll help you prepare. You'll be the primary provider, but that doesn't mean we won't be there to support you and your patient. We'll also help you to deal with any situation that may arise. Our team is always just a phone call away.

We are proud to be awarded the distinction of Rare Disease Heroes for our work in endocrinology and hyperinsulinism. This recognition is given to hospitals and clinicians that have excelled in advancing the management of rare diseases across 5 specialties: Endocrinology, Genetics, Hematology, Lysosomal Diseases and Neurology.

Innovative treatments for hyperinsulinism

Cook Children's hyperinsulinism team strives to offer new and innovative medication treatments to our patients. Whether you have a complex diffuse patient or a diagnostic dilemma, our multidisciplinary team approach enables us to deliver the specific treatment your patient needs. We have experienced surgical members who can perform the complex pancreatic surgeries needed.

For older children with very rare (1 per million) insulinomas (insulin secreting tumors of the pancreas), in our highly advanced interventional radiology suite, tumors can be localized by performing pancreatic arterial calcium stimulation tests. So far, we are 100 percent accurate in localizing the tumors and removing them, curing the patients and eliminating the risk of diabetes.

Discover our world-class Hyperinsulinism Center

Celebrating Paul Thornton M. D.

Ezme's Fight for Life

Call for referrals: 682-303-1380

Hyperinsulinism research. Leading change through collaboration.

Innovators in hyperinsulinism treatment, Cook Children's endocrinologists and dedicated researchers work with leaders in pediatric health care to give patients with even the most complex hyperinsulinism cases, every opportunity at living a productive, fulfilling life. As an Endowed Chair, Dr. Thornton, along with his team, continues to break new ground in HI treatment through research and teaching that benefits patients here at Cook Children's, across the nation and around the globe. For your patients who have failed standard therapy, we are participating in research studies that could allow them to go home on investigational new drugs.

A Long-term, Open-label Extension (OLE) Study of Carbetocin Nasal Spray for the Treatment of Hyperphagia in Prader-Willi Syndrome

Primary Investigator: Roy, Sani

IRB ID: 2023-068 (OPEN)

Study Information
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A Multicenter Multinational Observational Study of Children with Hypochondroplasia

Primary Investigator: Steelman MD, Joel

IRB ID: 2024-023 (OPEN)

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A Phase 2 Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of SPR001 (Tildacerfont) in Children Aged 2 to 17 Years with Congenital Adrenal Hyperplasia

Primary Investigator: Thornton MD, Paul Stephen

IRB ID: 2021-078 (OPEN)

Study Information
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A Phase 3, Randomized, Double-blind, Placebo-controlled, Parallel-group Study of Carbetocin Nasal Spray for the Treatment of Hyperphagia in Prader-Willi Syndrome

Primary Investigator: Roy, Sani

IRB ID: 2023-073 (OPEN)

Study Information
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A Randomized, Controlled, Open-Label, Phase 3 Study to Evaluate the Efficacy and Safety of INZ-701 in Children Ages >6 Months to <13 Years with Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) Deficiency

Primary Investigator: Steelman MD, Joel

IRB ID: 2023-031 (OPEN)

Study Information
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An Open-label, Single Arm, Multicenter, Phase III Study on the Efficacy, Safety, and Pharmacokinetics of FP-001 42 mg Controlled Release in Patients with Central (Gonadotropin-Dependent) Precocious Puberty

Primary Investigator: Radack MD, Jill Goldfarb

IRB ID: 2022-114 (OPEN)

Study Information
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An Operationally Seamless, Randomized Phase 2/3 Study Consisting of a Phase 2 Single-Blind, Dose-Evaluation Phase and a Phase 3 Double-Blind, Placebo-controlled Phase to Assess the Efficacy and Safety of Setrusumab in Subjects with Osteogenesis Imperfecta.

Primary Investigator: Steelman MD, Joel

IRB ID: 2023-061 (OPEN)

Study Information
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Cortisol Production in Children and Adolescents with Prader-Willi Syndrome

Primary Investigator: Roy, Sani

IRB ID: 2024-002 (OPEN)

Study Information
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Expanded Access Program for Tiratricol in Patients with Monocarboxylate Transporter 8 Deficiency also known as Allan-Herndon-Dudley syndrome (AHDS)

Primary Investigator: Thornton MD, Paul Stephen

IRB ID: 2023-070 (OPEN)

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Hyperinsulinism Center Registry for Research and Quality Data Collection

Primary Investigator: Thornton MD, Paul Stephen

IRB ID: 2011-183 (OPEN)

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Identification of and Genomic Editing of Novel Gene Mutations in Congenital Hyperinsulinism

Primary Investigator: Thornton MD, Paul Stephen

IRB ID: 2023-059 (OPEN)

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Peer reviewed:

Counts DR, Silverman LA, Rajicic NC, Geffner ME, Newfield RS, Thornton PS et al. "A 4-Year, Open-Label, Multicenter, Randomized Trial of Genotropin® Growth Hormone in Patients with Idiopathic Short Stature: Analysis of 4-Year Data Comparing Efficacy, Efficiency, and Safety between an Individualized, Target-Driven Regimen and Standard Dosing" Horm Res Paediatr 2015 May 1 (DOI:10.1159/000381642) [Epub ahead of print]
Smith A, Thornton PS, Galliani CA, Miller JP, Dykes J, Leung-Pineda V. "A 14-Year Old Girl with Reversible Hypoglycemic Episodes: The Role of ASVS. Pediatr Dev Pathol. 2015 Jan-Feb;18(1):80-3. doi: 10.2350/14-08-1537-CR.1. Epub 2014 Dec 1
Thornton, PS; Stanley CA, De Leon D, Harris DL, Haymond M, Hussain K, et al. "Recommendations from the Pediatric Endocrine Society For Evaluation And Management Of Persistent Hypoglycemia In Neonates, Infants, And Children." J Pediatr; 2015;166:1520-5
Stanley CA, Rozance PJ, Thornton PS, De Leon DD, Harris D, Haymond MW et al. Re-Evaluating "Transitional Neonatal Hypoglycemia": Mechanism and Implications for Management: J Pediatr. 2015 Mar 25. pii: S0022-3476(15)00165-1. doi: 10.1016/j.jpeds.2015.02.045. [Epub ahead of print]
Thornton, PS, Lawrence A Silverman, Mitchell E Geffner, E Kirk Neely, Errol Gould, Theodore M Danoff "Review of Outcomes after Cessation of Gonadotropin-releasing Hormone Agonist Treatment of Girls with Central Precocious Puberty" Pediatric Endocrine Reviews 11.2 (2014)
Neely, EK, Lawrence A. Silverman, Mitchell E. Geffner, Theodore M. Danoff, Errol Gould, Paul S. Thornton "Random unstimulated pediatric luteinizing hormone levels are not reliable in the assessment of pubertal suppression during Histrelin implant therapy." Int J Pediatr Endocrinol. 2013 Dec 2;2013(1):20. doi: 10.1186/1687-9856-2013-20.
Counts, D.R., L.A. Silverman, M.E. Geffner, N. Rajicic, J. Hey-Hadavi, P.S. Thornton, M.P. Wajnrajch, and the ISS Study Group: "A Four-Year, Open-Label, Multi-Center, Randomized, Two-Arm Study of Genotropin ® in Patients with Idiopathic Short Stature: Comparison of an Individualized, Target-Driven Treatment Regimen to Standard Dosing of Genotropin ® – Analysis of Two-Year Data" Horm Res Paediatr. 2013;80(4):242-51. doi: 10.1159/000354126. Epub 2013 Sep 10.
Pinney SE, MacMullen C, Becker S, Lin YW, Hanna C, Thornton P, Ganguly A, Shyng SL, Stanley CA.: Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J Clin Invest. 2008 Aug;118(8):2877-86
Peranteau WH, Ganguly A, Steinmuller L, Thornton P, Johnson MP, Howell LJ, Stanley CA, Adzick NS.: Prenatal diagnosis and postnatal management of diffuse congenital hyperinsulinism: a case report. Fetal Diagn Ther. 2006; 21(6):515-8. Epub 2006 Sep 12
Hussain K, Seppanen M, Nanto-Salonen K, Adzick NS, Stanley CA, Thornton P, Minn H. The diagnosis of ectopic focal hyperinsulinism of infancy with [18F]-dopa positron emission tomography.J Clin Endocrinol Metab. 2006 Aug; 91(8):2839-42.
Hoe FM, Thornton PS, Wanner LA, Steinkrauss L, Simmons RA, Stanley CA. Clinical features and insulin regulation in infants with a syndrome of prolonged neonatal hyperinsulinism. J Pediatr. 2006 Feb;148(2):207-12
Suchi M, MacMullen CM, Thornton PS, Adzick NS, Ganguly A, Ruchelli ED, Stanley CA. Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. Mod Pathol. 2006 Jan; 19(1):122-9.
M Henwood, Thornton PS, C Preis, C Chee and A Grimberg. Reconciling Diabetes Management and the Ketogenic Diet in a Child with Pyruvate Dehydrogenase Deficiency" J Child Neurol 2006; 21:436-439.
Steinkrauss L, Lipman TH, Hendell CD, Gerdes M, Thornton PS, Stanley CA: Effects of hypoglycemia on developmental outcome in children with congenital hyperinsulinism. J Pediatr Nurs 20: 109-18, Mar-Apr 2005
Henwood MJ, Kelly A, MacMullen C, Bhatia P, Ganguly A, Thornton PS, Stanley CA: Genotype-Phenotype Correlations in Children with Congenital Hyperinsulinism Due to Recessive Mutations of the KATP Channel Genes. J of Clin Endocrinol Metab 90: 89- 94, 2005.
Hussain K, Thornton PS, Otonkoski T, Aynsley-Green A. Severe transient neonatal hyperinsulinism associated with hyperlactataemia in non - asphyxiated infants. J Pediatr Endocrinol Metab. 2004;17: 203-209
Suchi, M, Thornton, P, Adzick, N, MacMullen, C, Ganguly, A, Stanley, C, Ruchelli, E: Congenital hyperinsulinism: Intraoperative biopsy interpretation can direct the extent of pancreatectomy. Am J Surg Pathol 28: 1326-1335, 2004
Stanley, CA, Thornton PS, Ganguly A, MacMullen C, Underwood P, Bhatia P, Steinkrauss L, Wanner L, Kaye R, Ruchelli E, Suchi M, Adzick NS: Preoperative Evaluation of Infants with Focal or Diffuse Congenital Hyperinsulinism by Intravenous Acute Insulin Response Tests and Selective Pancreatic Arterial Calcium Stimulation. J Pediatrics; 112: 1005-1015, 2003
Xu W, Robert C, Thornton PS, Spinner NB. Complete androgen insensitivity syndrome due to X chromosome inversion: a clinical report. Am J Med Genet A. 2003 Jul 30; 120(3):434-6.
Thornton PS, MacMullen C, Ganguly A, Ruchelli E, Steinkrauss L, Crane A, Aguilar- Bryan L, Stanley CA: Clinical and Molecular Characterization of a Dominant Form of Congenital Hyperinsulinism caused by a Mutation in the High Affinity Sulfonylurea Receptor. Diabetes; 52:2403-2410, 2003.
Adzick NS, Thornton PS, Stanley CA, Kaye RD, Ruchelli E: A multidisciplinary approach to the focal form of congenital hyperinsulinism leads to successful treatment by partial pancreatectomy. J Pediatr Surgery 39 (3) 270-275, 2004.
Suchi M, MacMullen CM, Thornton PS, Ganguly A, Stanley CA, Ruchelli ED: Histopathology of congenital hyperinsulinism: A retrospective study with genotype correlations. Pediatric Dev Pathol., 6: 322-333, 2003.
Kassem SA, Ariel I, Thornton PS, Hussain K,.Smith V, Lindley KJ, Aynsley-Green A, and Glaser B. p57KIP2 Expression in Normal Islet Cells and in Hyperinsulinism of Infancy. 2001 Diabetes. 50(12):2763-2769
Kelly A, Ng D, Ferry RJ, Grimberg A, Koo-McCoy S, Thornton PS, Stanley CA: Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome. J Clin Endocrinol Metab. 2001 Aug.86(8):3724-3728
Baker S.B., Burkey B.A., Thornton P.S., and LaRosssa D. Juvenile Gigantomastia: Presentation of four cases and review of the literature. Annals of Plastic Surgery 2001 May: 46(5):517-25
Hsu BL, Kelly A, Thornton PS, Greenberg CR, Dilling L, and Stanley CA. Protein sensitive and fasting hypoglycemia in children with the hyperinsulinism hyperammonemia syndrome. J Pediatr 2001; 138:383-389.
A.Grimberg R.J.Ferry Jr., A. Kelly, S.Koo-McCoy, K.Polonsky , B.Glaser MD§, M.A.Permutt, LAguilar-Bryan, D Stafford, Thornton PS, L Baker, and C A Stanley. Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations. Diabetes. 50: 322-28, 2001
Duggan M, Marsh B, Phelan D, and Thornton PS. Fatal new onset metabolic encephalopathy in a 14 year old boy. Clinical Intensive Care 2000Aug:Vol 11, #4:215- 217(3)
Kassem S, Ariel I, Thornton PS, Scheimberg I and Glaser B. Beta cell proliferation and Apoptosis in the developing normal fetal and neonatal human pancreas and in hyperinsulinism of infancy. Diabetes. 49: 1325-33, 2000
Abdulla N, Monavari A, Bowell R, Thornton PS, Naughten E, O'Keefe M. Occular findings in glutaric aciduria type 1. J Pediatr Ophthalmol Strabismus. 2000 Sep;37(5):289-93.
Fenton S, Murray D, Thornton PS, Kennedy S, O'Keefe M. Bi-lateral massive retinal haemorrhages in a six-month-old infant: A diagnostic dilemma. Archives of Ophthalmology. 117 (10) 1432-34. 1999
B. Glaser, F Ryan, M Donath, H Landau, CA Stanley, L Baker, D Barton, and Thornton PS. Hyperinsulinism caused by Paternal-Specific Inheritance of a Recessive Mutation of a Non-Imprinted Gene. Diabetes. 48 (8): 1652-57. 1999
Paul S. Thornton, Heddy Landau, M. Alan Permutt. Intragenic Single Nucleotide Polymorphism Haplotype Analysis of SUR1 Mutations in Familial Hyperinsulinism. Human Mutation. 14 (1): 23-29. 1999
Yap S, O'Donnell, KA, O'Neill C, Mayne PD, Thornton PS, Naughten E. Factor V Leiden (Arg506Glu) a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta synthetase deficiency. Thromboembolism. 81:502-5. 1999
F. Safadi (joint first authors), Thornton PS, H Magiera, BW. Hollis, M Gentile, J G. Haddad, S A. Liebhaber, and N E. Cooke: Osteopathy and resistance to vitamin D toxicity in Mice Null for Vitamin D Binding Protein (GCc-globulin) J. Clin. Invest. 103:2; 239-51 1999
S Yap, A A Monavari, Thornton PS, E Naughten. Late infantile 3-Methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay. J. Inher. Metab. Dis. 21: 175-76, 1998
Ann Nestorowicz, Benjamin Glaser, Beth A Wilson, Show-Ling Shyng, Colin G Nichols, Charles A Stanley, Thornton PS, M. Alan Permutt. Genetic heterogeneity in familial hyperinsulinism. Human Molecular Genetics 7(7):1119-28, 1998
F Ryan, D Devaney, C Joyce, A Nestorowicz, M A Permutt, B Glaser, D E Barton, Thornton PS. Hyperinsulinism: The molecular aetiology of focal disease. Arch Dis Child 1998;79: (5) 445-7
Thornton PS, Marta S Satin-Smith, Kevan Herold, Benjamin Glaser, Ken C Chiu, Ann Nestorowicz, M. Alan Permutt, Lester Baker, Charles A Stanley. Familial hyperinsulinism with apparent autosomal dominant inheritance: Clinical and genetic differences from the autosomal recessive variant. J Pediatrics 1998; 132: 9-14
Benjamin Glaser, Prebakaran Kesavan, Ma'ayan Heyman, Elizabeth Davis, Antonio Cuesta, Andreas Buchs, Charles A. Stanley, Thornton PS, M. Alan Permutt, Franz M. Matschinsky, Kevan C. Herold. Familial Hyperinsulinism Caused by a Novel Glucokinase Mutation. N Engl J Med. 1998; 338: 226-30
Weinzimer SA, Stanley CA, Berry GT, Yudkoff M, Tuchman M, Thornton PS. A syndrome of congenital hyperinsulinism and hyperammonemia. J Pediatrics 1997; 130 (4): 661-4
Levitt-Katz, Satin-Smith M, Collett-Solberg P, Thornton PS, Baker L, Stanley CA and Cohen P. Insulin like growth factor binding protein-1 levels in the diagnosis of hypoglycaemia caused by hyperinsulinism. J Pediatric 1997; 131(2): 193-9
Nestorowicz A, Inagaki N, Gonoi T, Schoor KP, Wilson BA, Glaser B, Landau H, Stanley CA, Thornton PS, Seino S and Permutt MA. A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. Diabetes 1997; 46 (11): 1743-8
Satin-Smith M, Levitt-Katz, Thornton P, Gruccio D Moshang T Jr. Arm span measurements evaluating response to growth hormone therapy in children with meningomyelocoel and growth hormone deficiency. J Clin Endocrinol Metab 1996; 81:1654-1656.
Nestorowicz A, Wilson BA, Schoor KP, Inoue H, Glaser B, Landau H, Stanley CA, Thornton PS, Clement JP 4, ßryan J, Aguilar-Bryan L, Permutt MA. Mutations in the sulphonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum Mol Genet; 1996; 5(11): 1813-22
Alter C, Thornton PS, Willi S, Levitt-Katz L, Gruccio D, Moshang T Jr. Growth following bone marrow transplantation in acute myelogenous leukaemia as compared to acute lymphoblastic leukemia. J Ped Endocrinol Metab.1996; 9:51-57.
Glaser B, Chiu KC, Liu L, Anker R, Nestorowicz A, Cox NJ, Landau H, Kaiser N, Thornton PS, Stanley CA, Cerasi E, Baker L, Donis-Keller H, Permutt MA. Recombinant mapping of the familial hyperinsulinism gene to an 0.8cM region on chromosome 11p15.1and demonstration of a founder effect in Ashkenazi Jews. Human Mol Genet 1995;4(5): 879-86
Glaser B, Chiu KC, Anker R, Nestorowicz A, Landau H, Ben-Bassat H, Shlomai Z, Kaiser N, Thornton PS, Stanley CA, Spielman R, Gogolin-Ewens K, Cerasi E, Baker L, Rice J, Donis-Keller H, Permutt A. Familial hyperinsulinism maps to human chromosome 11p14-15.1, 30 cM centromeric to the Insulin gene. Nature Genetics. 1994; 7: 2: 185-188
Thornton PS, Gruccio D, Winyard PJ, Alter CA, Moshang T, Jr. The highly sensitive adrenocorticotropin assay improves detection of partial adrenocorticotropin deficiency in a short metyrapone test. J Pediatric Endocrinology 1994; 4:
McCawley L, Korchak HM, Douglas SD, Campbell DE, Thornton PS, Stanley CA, Baker L, Kilpatrick L: In vitro and in vivo effects of granulocyte colony stimulating factors (GCSF) on neutrophils (PMN) in glycogen storage disease type1B: GCSF therapy corrects the neutropenia and the defects in respiratory burst activity and calcium mobilization. Pediatric Research 1994; 35: 84-90
Thornton PS, Alter CA, Levit Katz LE, Baker L, Stanley CA. Acute and long term treatment of congenital hyperinsulinism with octreotide. J Pediatr. 1993; 123: 637-43.
Thornton PS, Sumner AE, Ruchelli ED, Spielman RS, Baker L, Stanley CA: Familial and sporadic hyperinsulinism: Histopathology and segregation analysis support a single autosomal recessive disorder. J Pediatr, 1991; 119:721-724.

Non-peer reviewed

Thornton, PS. Neonates at risk for hypoglycemia: associated neurological outcomes J Pediatr. 2016 Mar;170:341-4
Thornton, PS, Charles A. Stanley, Diva De León, Andrea Kelly, Mark A. Sperling, Joseph I. Wolfsdorf, Morey Hamond et al. Letter to the Editor "Research Initiatives In Neonatal Hypoglycemia" Journal of Pediatrics 2010 Vol. 156, Issue 5; 862-863
Weinzimmer SA, Thornton PS. Blue Balls. Pediatrics 108(5) 1233-34. 2001
Kelly A, Alter C.A and Thornton P.S. Hyperinsulinism. The Endocrinologist. 2001
Thornton PS. Etiologia y pathogenia del hiperinsulinism. Analles Espanoles de Pediatria 52: Supplement 1 10-12. 2000
Glaser,B., Thornton PS, Timo Otonkoski, Claudine Junien. The Genetics of Neonatal Hyperinsulinism. Arch Dis Child Fetal Neonatal Ed. 2000 Mar; 82(2):F79-F86.
A.Aynsley-Green, K.Hussain, J.Hall , JM. Saudubray, C. Nihoul-Fékété, P. De Lonlay- Debeney, F. Brunelle, T. Otonkoski, P. Thornton, KJ.Lindley. The Practical Management of Hyperinsulinism in Infancy: Arch Dis Child Fetal Neonatal Ed. 2000 Mar; 82(2):F98- F107.
Stanley, CA, and P.S. Thornton: Leucine sensitive hypoglycemia unraveled. Topical Endocrinology 2000 Volume 16
Glaser B, Thornton PS, Herold K, Stanley CA. Clinical and molecular heterogeneity of familial hyperinsulinism. J Pediatr. 1998 Dec;133(6):801-2
Baker L, Thornton PS, Stanley CA: Treatment of hyperinsulinism in infants. J Pediatr, 1991; 119:755-758.

Chapters in books

Diva De Leon, Paul S. Thornton, Charles A. Stanley, Mark A. Sperling: "Hypoglycemia in the Newborn and Infant" Textbook of Pediatric Endocrinology 5th edition: Sperling MA ed. Elsevier Science 2014: 157-185
D H Williamson & Thornton PS. Ketone Body Production and Metabolism in the Fetus and Neonate. Fetal and Neonatal physiology; Polin, Fox and Abman (eds) 4th edition WB Saunders 2011, 487-96
D H Williamson & Thornton PS. Ketone Body Production and Metabolism in the Fetus and Neonate. Fetal and Neonatal physiology; Polin, Fox and Abman (eds) 3rd edition WB Saunders 2004, 419-28
M Satin Smith and Thornton PS. Precocious Puberty in Schwartz, MW (ed): The Clinical Handbook of Pediatrics, Williams & Wilkins, Baltimore, 2002
Syndrome of Inappropriate ADH secretion: Thornton PS, R Ferry, P Collette-Solberg
Diabetes Insipidus Thornton PS, R Ferry, P Collette-Solberg
Chapters in Schwartz MW (ed): The Five Minute Pediatric Consult. Williams & Wilkins, Baltimore. 2002
Thornton PS. Hypoglycemia. In Requisites in Pediatrics. Moshang Jr, Tom ed Elsevier Mosby 37-59. 2005.
Stanley CA, Thornton PS, Finegold DN, Sperling MA. Hypoglycemia in infants and neonates. In Textbook of Pediatric Endocrinology: Sperling MA ed. Elsevier Science, 2002: 7; 135-60
Thornton PS, Finegold DN, Stanley CA, Sperling MA. Hypoglycemia in the infant and child. In Textbook of Pediatric Endocrinology: Sperling MA ed. Elsevier Science, 2002: 13, 367-84
Kelly, A., P.S. Thornton. Hypoparathyroidism Emedicine 2000
Thornton, PS. Fatty acid oxidation disorders. Yourdoctor.Com 2000
A. Kelly and P. S. Thornton. Hyperinsulinism Yourdoctor.Com 2000
Moshang T. Jr, Thornton PS: Endocrine disorders in the newborn. In: Neonatology: Pathophysiology and Management of the Newborn 5th Edition. Avery GB, Fletcher MA and Macdonald MG (eds.). 1998
Cooke N.E., Safadi F.F., Magiera H.M., Thornton P., Hollis B., Liebhaber S.A., Gentile M., Haddad J.G. "Biological Consequences of Vitamin D Binding Protein Deficiency", in Norman A., Bouillon R., Thomasset M., eds., Vitamin D: Chemistry, Biology and Clinical Applications of the Steroid Hormone, pp. 105-111, 1997.
Moshang T, Jr, Thornton PS: Endocrine disorders in the newborn. In: Neonatology: Pathophysiology and Management of the Newborn 4th Edition. Avery GB, Fletcher MA and Macdonald MG (eds.). 1993, 764-93
Thornton PS, Berry GT, Stanley CA: Disorders of intermediary metabolism. In: Holbook PR (ed.). Textbook of Pediatric Critical Care. Philadelphia, WB Saunders, 1993, pp. 725 - 740

Abstracts

Thornton, PS "Hypophosphatemia Can Resolve in the Mature Skeleton in Cutaneous Skeletal Hypophosphatemia Syndrome: Lessons From A Case and Review of the Literature" Poster presented at ENDO 2015, March 5-8 in San Diego, CA
Truong L, Thornton PS "The Majority of Late Presenting Congenital Hypoglycaemia Disorders are Really Missed Diagnosis. What can we do to Improve Diagnosis in the New-born Period?" Poster presented ESPE 2014, 53rd Annual European Society For Paediatric Endocrinology Meeting in Dublin, Ireland, September 18-20, 2014
Thornton, PS, "The Patterns of Referral and Treatment in Children with Precocious Puberty" Poster presented at the 2014 PAS/ASPR meeting in Vancouver, BC, Canada, May 3-6, 2014
Thornton, PS, Michael Willcutts, Patrick Fraser "Home Sodium monitoring in Children with Diabetes Insidious Complicated by Loss of Thirst, is Safe, Effective and Significantly Improves Quality of Life and Cost of Care" Poster presented at the 2014 PAS/ASPR meeting in Vancouver, BC, Canada, May 3-6, 2014
McMahon AW, Weinel P, Wharton GT, Abrams B, Damilano CP, DeLeon D, Lieu P, Yen L, Carol Taketomo, Thornton PS, Sood B, Doe E, Robin L. Baker, Rodriguez W, Murphy MD "Analysis of Method to Capture Adverse Events in Neonates and Children in Tertiary Care Pediatric Hospitals" Poster, 2013 International Society of Pharmecoepidemiology. Montreal, Canada.
Roitsch, C., Lisa Tran; Paul S Thornton "Reversible Pulmonary Hypertension Caused By Diazoxide Therapy in Patients Congenital Hyperinsulinism" Presented at the 9th Joint Meeting of ESP/PES, September 19-22, 2013. Milan, Italy
McMahon, AW, P Weinel; G Wharton; B Abrams; C Damilano; Diva De Leon; P Lieu; L Yen; C Taketomo; B Sood; B Jackson; W Rodriguez; M D Murphy; Paul S Thornton "The safety and patterns of use of Octreotide in the treatment of Congenital Hyperinsulinism" Poster Presentation at the 9th Joint Meeting of ESP/PES, September 19-22, 2013. Milan, Italy
Thornton, PS, Lisa Tran: "Following the Canadian Pediatric Society and the American Academy of Pediatrics Guidelines for the management of neonatal hypoglycemia will miss some neonates with Transient Perinatal Stress Hyperinsulinism" Poster Presentation at the 9th Joint Meeting of ESP/PES, September 19-22, 2013. Milan, Italy
Thornton, PS, Lisa Tran "Can a 6 hour fasting study differentiate neonates with pathological etiologies for hypoglycemia from those with physiological transition problems?" Poster presentation at the APS/SPR/PES annual meeting. Washington DC May 2013
Thornton, PS "The Top 10 Questions to ask your Department Chairman BEFORE you agree to see more patients". Oral presentation at the APS/SPR/PES annual meeting. Washington DC May 2013.
Thornton, PS, Kelly Warren, Christin Morell, Joel Steelman: "Safety and Efficacy of Arginine Insulin Tolerance Test in the Diagnosis of Growth Hormone Deficiency". Poster presentation at the APS/SPR/PES annual meeting. Washington DC May 2013.
Zerah, M. , Jennifer Anderson, Jennifer Davenport, Paul S Thornton: "Fatal obstructive hypertrophic cardiomyopathy in two cases of neonatal congenital Hyperinsulinism" Presented at 2013 Endo Society Annual Meeting, June 15 – 17, 2013, San Francisco, CA
Zerah, M., Jennifer Anderson, Jennifer Davenport, Paul S Thornton "SUN-610: Fatal obstructive hypertrophic cardiomyopathy in two cases of neonatal congenital Hyperinsulinism" Presented at 2013 Endo Society Annual Meeting, June 15- 17, 2013, San Francisco, CA
Thornton, PS "Evaluation and Management Code Utilization by Pediatric Endocrinologists" Presented at the PES/PAS/SPR Joint Annual Meeting, April 28-May 1, 2012 Boston, MA
Counts DR, Geffner ME, Hey-Hadavi J, Newfield RS, Silverman LA, Thornton PS, Rajicic N, and Wajnrajch MP "A 4-Year, Open-Label, Multi-Center, Randomized, 2- Arm Study of Genotropin® in Idiopathic Short Stature Patients: Comparing an Individualized, Target-Driven Treatment Regimen to Standard Dosing of Genotropin® – Analysis of Initial 2-Year Data" Presented at the PES/PAS/SPR Joint Annual Meeting, April 28-May 1, 2012, Boston, MA
Thornton, PS, L Silverman, M. Geftner, S. Potts, T. Danoff. E.Gould " Random Pediatric LH Levels Are Not Reliable in the Assessment of Pubertal Suppression by the Histrelin Subcutaneous Implant" Presented at PES/PAS/SPR Joint Annual Meeting, April 28-May 1, 2012, Boston, MA
Thornton, PS, Marsha L. Davenport, Peter Jönsson, Ferah Aydi, Donna King " Males With Mixed Gonadal Dysgenesis (MGD) Respond to Growth Hormone Therapy: A Retrospective KIGS Analysis" Presented at PES/PAS/SPR Joint Annual Meeting, April 28-May1, 2012 Boston MA.
White, K., Amanda Wiggans, Paul Thornton "Evaluation of the Incidence of Previously Undiagnosed Hypoglycemia in the Emergency Department" Presented at PES/PAS/SPR Joint Annual Meeting, April 28-May1, 2012 Boston MA, and The PESTOLA Annual Conference, January 27-29, 2012 Fort Worth, TX
Silverman, L., D.Chin, B.Cerame, J.Steelman, M.Wilcutts, P. Thornton "50mg Histrelin Implant in Suppressing Puberty in Boys" Poster presented at 2011 Endo Society Meeting, Boston MA
A.M. Boyce, W.H. Chong, M.H. Kelly, R.I. Gafni, E.W. Cowen, P.S. Thornton, M.T. Collins "A Novel Syndrome of Neurocutaneous Melanosis, Hypophosphatemic Rickets, and a Mosaic Skeletal Dysplasia" Presented at 2011 ENDO Society Annual Meeting, Boston, MA
Thornton PS, Stanley CM, Elzinga C, Divincenzo C, Braastad CD, Karbassi I , Ito M "Analysis of Mutations in Genes Causing Congenital Hyperinsulinism: A Diagnostic Testing Lab's Perspective" Poster Presented at 2011 PES Annual Meeting, Denver, CO.
Thornton PS, Amanda Wiggans, Jill Radack. "The Use of the Histrelin Acetate Subcutaneous Implant in the Treatment of Central Precocious Puberty." Poster presented at APS/SPR/PES Annual Meeting April 30-May 3, 2011, Denver, CO
Thornton PS, Amy Moberly, Timothy Black, James Miller "The Novel GnRH Agonist (Histrelin) Implant Is Safely and Effectively Implanted Under Local Anesthesia in the Office Setting" September, 2009, ESPE/LWPES Joint Meeting, New York, NY
Hoe F, Steinmuller L, Steinkrauss L, Thornton P, Stanley CA. Perinatal stress induced hyperinsulinism differs from congenital hyperinsulinism due to defects in SUR1 and GDH. Poster presentation at the Mid-Atlantic Diabetes Research Symposium, Lipsett Amphitheater/National Institutes of Health, Baltimore, Maryland, September 20, 2003.
MacMullen CM, Kim RJW, Thornton PS, Underwood P, Bhatia P, Steinkrauss L, Ganguly A, Stanley CA. Genotype/Phenotype correlations in recessively inherited B-cell KATP channel mutation patients. Presentation at the Lawson Wilkins Pediatric Endocrine Society and Pediatric Academic Societies' Annual Meetings, Pediatric Research 53 (4): 133A, 2003
Suchi M, Thornton PS, Adzick NS, MacMullen C, Ganguly A, Stanley CA, Ruchelli ED: Congenital hyperinsulinism: Intraoperative biopsy interpretation can direct the extent of pancreatectomy. 92nd US-Canadian Academy of Pathology Annual Meeting. March 22- 28, 2003. Washington DC, Platform presentation.
Underwood P, Bhatia P, Brown N, Herd J, Thornton PS, Stanley CA: Preoperative Diagnosis of Neonates with Focal vs. Diffuse Congenital Hyperinsulinism. Poster Presented at the GCRC National Meeting, Baltimore, Maryland. March 14, 2003.
MacMullen CM, Underwood P, Bhatia P, Brown N, Herd J, Steinkrauss L, Ganguly A, Thornton PS, Stanley CA: Genotype/Phenotype Correlations in Recessively Inherited b- Cell KATP Channel Mutation Patients. Poster Presented at the GCRC National Meeting, Baltimore, Maryland. March 14, 2003.
Underwood P, Bhatia P, Brown N, Herd J, Thornton PS, Stanley CA: Preoperative Diagnosis of Neonates with Focal vs. Diffuse Congenital Hyperinsulinism. Penn Diabetes Center Spring Symposium, Philadelphia, PA. Poster Section. March 11, 2003.
MacMullen CM, Underwood P, Bhatia P, Brown n, Herd J, Steinkrauss L, Ganguly A, Thornton PS, Stanley CA: Genotype/Phenotype Correlations in Recessively Inherited b- Cell KATP Channel Mutation Patients. Penn Diabetes Center Spring Symposium, Philadelphia, PA. Poster Section. March 11, 2003.
Underwood P, Bhatia P, Brown N, Herd J, Thornton PS, Stanley CA: Preoperative Diagnosis of Neonates with Focal vs. Diffuse Congenital Hyperinsulinism. CHOP Fellow Poster Day, Philadelphia, PA. February 5, 2003.
Thornton PS, Kelly A, MacMullen CM, Hsu BYL, Steinkrauss L, Stanley CA: Normal ammonia levels in patients with glutamate dehydrogenase hyperinsulinism (Hyperinsulinism/Hyperammonemia Syndrome). 40th International Congress of Inborn Errors of Metabolism, Dublin, Ireland, UK. September 3-6. J Inher Metab Dis, 25 (Suppl.1): 137, 2002
Henwood-Storto,M., Eduardo Ruchelli, N Scott Adzick, Ahmed Massoud, Deirdre Devaney, C A Stanley and Thornton PS. Persistent hypoglycemia in patients with congenital hyperinsulinism intractable to standard total pancreatectomy. LWPES/PAS annual meeting. Baltimore May 3-6 , 2002
Thornton PS, A Kelly, L Steinkrauss, L Steinmuller, R Simmons and C Stanley. Persistent perinatal stress - induced hypoglycemia is caused by hyperinsulinism that often resolves by 7 months. LWPES/PAS annual meeting. Baltimore May 3-6 , 2002
Rahier, J., C Sempoux, Guiot, Jaubert J, Fournet JC, Dunne M, Thornton PS, et al. Morphological typing of persistent hyperinsulinemic hypoglycemia of infancy from a cohort of 176 patients. Oral presentation LWPES Montreal July 2001
Hussain, K., P.S. Thornton, T.Otonkoski, A. Aynsley-Green. Transient neonatal hyperinsulinism (HI) associated with hyperlactataemia (HL): A further metabolic association with HI. Poster presentation. LWPES Montreal, July 2001
Thornton PS, Linda Steinkrauss, W Xu, S Koo-McCoy, Andrea Kelly, Diva Ng, B Hsu and Charles A Stanley. Transient Hyperinsulinism in infants with SGA or Perinatal asphyxia: Acute insulin response tests indicate normal function of the KATP channel and of glutamate dehydrogenase. Poster presentation LWPES Montreal, July 2001
Thornton PS, Linda Steinkrauss, Courtney MacMullen, Andrea Kelly, Diva Ng, Weizhen Xu, Robin Kaye, Scott Adzick, Eduardo Ruchelli and Charles A Stanley. Differentiation of Focal from Diffuse Hyperinsulinism by Acute Insulin Response (AIR) Testing and Pancreatic Arterial Stimulation Allows Accurate Preoperative Diagnosis and Focal Surgery. Oral presentation LWPES Montreal July 2001
McKnight, H., Linda Steinkrauss, Charles A Stanley, Thornton PS. The enigma of post pancreatectomy diabetes in patients with Diffuse Hyperinsulinism. Accepted as poster presentation ADA, Philadelphia, June 2001
Thornton PS, Courtney MacMullen, Linda Steinkrauss, Lydia Aguilar-Bryan, Ana Crane, Charles A Stanley. DelS1387: a Novel Dominant Mutation in SUR1 Causing a Mild form of Hyperinsulinism. Accepted for Oral presentation ADA Philadelphia June 2001
Thornton PS, L Steinkrauss, E. Ruchelli, R Kaye, S AdzicK, S Koo McCoy, A Kelly, D NG, W Xu and C A Stanley. Preoperative Diagnosis of Focal Versus Diffuse Congenital Hyperinsulinism Using Acute Insulin Response Testing and Selective Pancreatic Arterial Stimulation with Venous Sampling. Accepted as poster. PAS annual meeting. Baltimore April 28-May 1, 2001
Thornton PS, Courtney MacMullen, Linda Steinkrauss, Charles A Stanley. Use of Acute Insulin Response Tests To Identify a Novel Mutation in the Sulphonylurea Receptor Causing Dominantly Inherited Congenital Hyperinsulinism. Accepted as poster symposium. PAS annual meeting. Baltimore April 28-May 1, 2001
Suchi M, Thornton PS, Stanley CA, and Ruchelli ED: Hyperinsulinism - Are there only two histologic forms? Modern Pathology 14: 5P, 2001.
A Bohan, O Droogan, S Doyle, N Nolan, P Mayne, Thornton PS, Mfarrell, & J Hegarty.Mitochondrial DNA abnormalities without significant deficiency of intra- mitochondrial fatty acid oxidation enzymes in a well defined subgroup of patients with non alcoholic steatohepatitis. AASLD. October 2000
Thornton PS, A Grimberg, A Kelly, R Ferry, E Ruchelli, S Adzick, M Shapiro, D NG, CA Stanley Acute insulin response (AIR) testing accurately differentiates focal from diffuse hyperinsulinism.. Endocrine society 2000. Oral Presentation
Yap S, Naughten ER, Corlett L, Howard P, Irranca M, Howard P, O'Brien M, and Thornton PS. The effects of treatment on bone mineral density in patients with Homocystinuria due to cystathionine beta synthetase deficiency. SSIEM 37 Annual Symposium. Genoa Italy Sept 1999
Ryan E, Naughten E, and Thornton PS. Transdermal induction of puberty and hormone replacement therapy in females with galactosemia. SSIEM 37 Annual Symposium. Genoa Italy Sept 1999
Ryan, F., Joyce, C., Devaney, D., Glaser, B., Thornton, P., Barton, D E. (1998) Hyperinsulinism: A recessive disorder caused by a single paternally inherited mutation. J. Med. Genet. 35, sp60
Grimberg A, Koo-McCoy S, Ferry R, Polonsky K, Glaser B, Permutt A, Thornton PS, Baker L, Stanley CA. In vivo effects of sulfonyl urea receptor mutations on insulin responsiveness to acute and graded glucose stimulation. 2nd International Congress on ATP-sensitive K channels and disease. Illinois Sept 1998.
McCallion N, Irranca M, Naughten E, and Thornton PS. Uncooked cornflour compared to high protein diet in the treatment of GSD Type III. SSIEM 1998. J. Inher. Metab. Dis. 21: suppl 2;
Ryan F, Joyce C, Devany D, Costigan C, Barton D, Glaser B, and Thornton PS. A novel molecular aetiology for congenital hyperinsulinism. SSIEM 1998. J. Inher. Metab. Dis. 21: suppl 2; 131
Byrne A, Ledwidge M, Duff D, Oslizlok P, and Thornton PS. Transient neonatal carnitine deficiency: a treatable cause of fatal cardiomyopathy. SSIEM 1998. J. Inher. Metab. Dis. 21: suppl 2; 58 1998
Ryan CA, Cotter P, Paturi B, and Thornton PS. Familial vitamin B12 deficiency detected by neonatal Methylmalonic aciduria. Irish Paediatric Association, Oct 1998
Murray D, Fenton S, Ryan S, O'Keeffe M, Thornton PS. Retinal Haemorrhages: Clearing the doubt or clouding the picture. Irish Paediatric Association, Oct 1998
Shoana Quinn, John Cosgrove, Thornton PS. X-linked hypophosphataemic rickets. Treatment and outcome in five pedigrees. Irish Paediatric Association, Oct 1998
S.O.Sullivan, E. Ryan, N McCallion, Thornton PS. Vegan diet and breast-feeding: a preventable cause of Methylmalonic acidaemia. Irish Paediatric Association, Oct 1998
E Ryan, S O'Sullivan, E Naughten, Thornton PS. Hormone replacement therapy in girls with primary ovarian failure secondary to transferase galactosaemia. Irish Paediatric Association, Oct 1998
Heaphy P, Stokes H, Lynch B, Thornton PS. Adrenoleucodystrophy: a novel presentation. Irish Paediatric Association, May 1997 Presentation
Stokes H, Fox M, O'Conner P, Costigan C, Naughten E, Thornton PS. Incidence, clinical and biochemical features and outcome of congenital hyperinsulinism in the Irish population. Irish Paediatric Association, May 1997
McCallion N, Irranca M, Naughten E, and Thornton PS. Uncooked cornflour compared to high protein diet in the treatment of GSD Type III. Irish Paediatric Association, May 1997
Weinzimmer SA, Yudkoff M, Thornton PS, Stanley CA. Hyperinsulinism and Hyperammonemia. A distinct genetic syndrome. Pediatric Research 1996. 39 (4) part 2 98A
Satin-Smith M, Katz LEL, Drott H, Collett-Solberg P, Weinzimer SA, Thornton PS, Baker L, and Stanley CA. Use of a sensitive assay to document elevated insulin levels in congenital hyperinsulinism. Pediatric Research 1996, 39 :(4) part 2 149A.
Thornton, PS., Monks, B.R., Liebhaber, S.A., Cooke, N.E.: Is Deficiency of Vitamin D Binding Protein Lethal in Mice? 77th Annual Meeting of the Endocrine Society, Washington, D.C., June 14 - 17, 1995, p. 589.
Thornton, P.S., Monks, B.R., Hu, Y., Haddad, J.G., Liebhaber, S.A., Cooke, N.E.: Generation of a Mouse Line Null for Vitamin D Binding Protein by Targeted Homologous Recombination. 17th Annual Meeting of the American Society of Bone and Mineral Research, Baltimore, MD, Sept. 9 - 13, 1995, J.Bone Mineral Res.10:S494, 1995.
Glaser B, Chiu KC, Nestorowicz A, Thornton PS, Stanley CA, Baker L, Landau H, Permutt MA: Familial hyperinsulinism: a genetically hetero-genous disease. American Endocrine Society, 1995
Landau H, Glaser B, Chiu KC, Liu L, Nestorowicz A, Thornton PS Stanley CA, Cerasi E, Baker L, Donis-Keller H, Permutt A: A gene causing familial hyperinsulinism (FH, PHHI). Maps to chromosome 11p151.1 in Ashkenazi jewish and in arab families. European Society for Pediatric Endocrinology 1995.
Chiu KC, Nestorowicz A, Glaser B, Wilson B Thornton PS, Stanley CA, Baker L, Landau H, Permutt MA: Mapping the familial hyperinsulinism (FH) gene: exclusion of a K+ channel (KCNCI) gene and refinement of the critical region to less than 1 cM. American Diabetes Association, 1995.
Katz LEL, Collett-Solberg Thornton PS, Baker L, Stanley CA, Cohen P: Insulin-like growth factor-I treatment of congenital hyperinsulinism. The Endocrine Society, 1995.
Thornton PS, Glaser B, Herold K, Chiu KC, Satin-Smith, MS, Permutt MA, Baker L and Stanley CA: Familial hyperinsulinism (HI) inherited in an Autosomal dominant (AD) form differs clinically and genetically from the more common Autosomal recessive (AR) form. The Society for Pediatric Research 1995. (Oral presentation)
Glaser B, Chiu KC, Anker R, Nestorowicz A, Landau H, Ben-Bassat H, Shlomai Z, Kaiser N, Thornton PS, Stanley CA, Spielman R, Gogolin-Ewens K, Cerasi E, Baker L, Rice J, Donis-Keller H, Permutt A. Familial hyperinsulinism maps to human chromosome 11p. American Diabetes Association annual meeting. 1994
Satin-Smith M, Levitt-Katz L, Thornton PS, Gruccio D, Charney E, Moshang T Jr. Comparison of height and arm span measurements in response to long term growth hormone treatment in GH deficient meningomyelocele children. Society for Pediatric Research, 1994.
Thornton PS, Satin-Smith M, Glaser B, Nestorowicz A, Permutt A, Spielman R, Baker L, Stanley CA. Multigenerational transmission of familial hyperinsulinism. Endocrine Society annual meeting, 1994.
Levit Katz LE, Bunin N, Goldwein J Thornton PS, Alter CA, Moshang T, Jr. Growth failure is reduced in neuroblastoma patients prepared for bone marrow transplant with thiotepa. Society for Pediatric Research annual meeting 1993.
Winyard PJ, Thornton PS, Gruccio DA, Bunin N, Moshang, T: Growth hormone deficiency in children treated for head and neck sarcoma. The Endocrine Society, 1992.
Kilpatrick L, McCawley L, Korchak HM Thornton PS, Stanley CA, Baker L, Douglas SD: In vitro and in vivo effects of GCSF on neutrophils (PMN) in Glycogen Storage Disease 1B (GSD1B). Pediatric Research 31:152A, 1992 (Oral Presentation).
Thornton PS, Alter CA, Willi SM, Gruccio D, Moshang T: Diagnosis of partial ACTH deficiency using IRMA ACTH in conjunction with the short metyrapone test. Pediatric Research 31:85A, 1992 (Poster Presentation).
Thornton PS, Alter CA, O'Neill JA, Baker L, Stanley CA: Octreotide therapy in hyperinsulinism. Pediatric Research 31:189A, 1992 (Oral Presentation).
Moshang T Jr, Gruccio D, Alter C Thornton PS: Non-classical 3 beta-hydroxysteroid dehydrogenase (HSD) deficiency in a male child. Pediatric Research 29:82A, 1991.
Thornton PS, Sumner AE, Ruchelli ED, Spielman RS, Baker L, Stanley CA: Congenital hyperinsulinism: Evidence of autosomal recessive inheritance. Pediatric Research 29:199A, 1991.
Thornton PS, Sumner AE, Baker L, Stanley CA: Familial hyperinsulinism of the newborn. American Diabetes Association. January, 1991 (Poster Presentation).
Thornton PS, Donohoe V, Murphy JFA: Fluid and electrolyte balance in sick preterm infants: Renal ultrasound changes detect hypoxic-ischemic damage. British Paediatric Society, April, 1989 (Oral Presentation).
Thornton PS, Donohoe V, et al.: Fluid and electrolyte balance in sick preterm infants: The role of maturational defects and intrinsic renal damage. Irish Paediatric Society, May, 1988 (Oral Presentation).

Multidisciplinary care for hyperinsulinism patients

Medical Director, Cook Children's Hyperinsulinism Center

Paul Thornton, MBBS

Endocrinology

4.8 out of 5

55 Ratings

Accepting new patients

682-885-7960

Assistant Directors, Cook Children's Hyperinsulinism Center

Susan Hsieh, MD

Endocrinology

4.9 out of 5

167 Ratings

Accepting new patients

682-885-7960

Alejandro de la Torre, MD

Endocrinology

4.9 out of 5

165 Ratings

Accepting new patients

682-885-7960

Hyperinsulinism Team

Leah Elizondo, MD

Neonatology

Accepting new patients

855-687-6428

John Uffman, MD

Pediatric Surgery

4.9 out of 5

48 Ratings

Accepting new patients

682-885-7080

Irene Castaneda-Sanchez, MD

Pathology

682-885-4289

Barry Putegnat, MD

Radiology

682-885-4076

Shelby Fierke, MD

Radiology

682-885-4076

Fernando Acosta Jr., MD

Neurology

4.9 out of 5

131 Ratings

Accepting new patients

682-885-2500

Jane Keng, MD

Gastroenterology

4.7 out of 5

65 Ratings

Accepting new patients

682-885-1990

Lisa Truong
CPNP- PC/AC- HI Co-Director
Kaitlyn Miller
RN- HI Coordinator
Tiffany Skrodzki
RN- Research Nurse
Deborah Rafferty
Research Coordinator
Minali Patel
Endocrine Pharmacist
Jamie Haswell
Investigational Pharmacist
Micha Koentz
Investigational Pharmacist Supervisor
Ryan Murphy
Clinical Therapist
Corrie Andrews
Clinical Therapist
Teresa Bartnicki, LPC
Clinical Therapist
Caroline Atwell
Registered Dietitian
Ana Neblett
Registered Dietitian
Hannah Kim
Registered Dietitian
Brenda Sonnier
Child Life Specialist
Cris Hinojosa, MSW
Social Worker
Neely
Sit, Stay and Play Dog Therapy

Our goal is to provide the most recent technology and best quality of care for babies and children with congenital HI, while providing support and information to their families. Central to this is our special team of doctors that include pediatric endocrinologists, surgeons, neurologists, neonatologists, gastroenterologists, pathologists and radiologists. We also have an HI nurse, nutritionist, social worker, psychologist, Child Life specialists and feeding and speech therapists. When you bring your child to Cook Children's, you'll find much more than a medical team, you'll find a family of people who care about the most important thing in the world, your child.

Meet the endocrinology team

Caring for a patient with hyperinsulinism is complex. They require care from multiple specialists and support services. As one of the premier programs in the country, we have built a world-renowned hyperinsulinism center. Our dedicated hyperinsulinism team works closely with a highly skilled, multidisciplinary team across specialties and support services. In addition, Cook Children's state-of-the-art, all-single room, Level IV Neonatal Intensive Care Unit enables parents to stay with their baby 24 hours a day, 7 days a week. Cook Children's Teddy Bear Transport staff of 62 neonatal/pediatric nurses, respiratory therapists and paramedics is dedicated to getting the most medically fragile children and neonates to our award-winning medical center quickly and safely. Teddy Bear Transport brings nearly 4,000 patients to our medical center each year from Canada, across the United States and Latin America.

Endocrinologists
Gastroenterologists
Neonatologists
Neurologists
Pathologists
Pediatric surgeons
Radiologists
Endocrine nurses
NICU nurses
Nutritionists
Social workers
Psychologists
Child Life specialists
Feeding and speech therapists

Working together is in our DNA

It takes more than medicine and research to ensure that patients reach their goals, it takes compassionate collaboration. That's why our team of renowned physicians, researchers and specialists work with you, your patient and the family to ensure that infants, children and teens with this rare disease receive the most advanced treatments available today, with an eye on their future as well.

Designations and recognition

When you refer a patient to Cook Children's Hyperinsulinism Center, you can trust that you're choosing a team with extensive expertise, resources and commitment to providing the best available care possible.

Only hyperinsulinism center of its kind in the Southern U.S.
One of only two hyperinsulinism centers in the U.S.
Recognized as Rare Disease Heroes for advancements in endocrinology and hyperinsulinism
Level IV Neonatal Intensive Care Unit and first in the south to offer all-single NICU rooms
Internationally recognized Medical Director, Dr. Paul Thornton serves on multiple boards including the Pediatric Endocrine Society and the Congenital Hyperinsulinism International organization.
Cook Children's Medical Center nurses have received Magnet® recognition three times, an honor achieved by less than three percent of health care organizations nationwide.

Request an appointment

Referring physicians find our rapid response time surprising – and refreshing. We understand the critical need of your epilepsy patients, which is why a care coordinator will work with your family throughout each step of their journey.

Call 682-303-1380 Download consult/referral form 682-885-2557 fax

Whether it’s for a consultation, or to refer a patient, all you have to do is call us – and from there, we’ll handle the rest.

Coming from outside of Texas?

We offer many services to families who are traveling from out-of-state. We can help with appointment scheduling, insurance approvals, and making your experience with Cook Children's as easy as possible.

Please call 682-303-1380 to speak to our Global Health Services care coordinator if you need help with out-of-state or international referrals. You can also email us at GlobalHealthServices@cookchildrens.org.

International guidelines for the diagnosis and management of hyperinsulinism

Cook Children's Hyperinsulinism Center

Choosing Cook Children's Hyperinsulinism Program

Partnering with you

Innovative treatments for hyperinsulinism

Discover our world-class Hyperinsulinism Center

Hyperinsulinism research. Leading change through collaboration.

Active research studies

Publications and presentations

Non-peer reviewed

Chapters in books

Abstracts

Abstracts

Multidisciplinary care for hyperinsulinism patients

Medical Director, Cook Children's Hyperinsulinism Center

Assistant Directors, Cook Children's Hyperinsulinism Center

Hyperinsulinism Team

Working together is in our DNA

Designations and recognition

Request an appointment

Coming from outside of Texas?