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  • Chanika Phornphutkul, MD

  • Qian Chen, Ph.D

    Dr. Phornphutkul received her MD from Chiangmai University School of Medicine, Thailand. She completed her pediatric residency at University of Michigan and Brown University. She completed fellowships in Pediatric Endocrinology from Hasbro Children's Hospital, Brown University and Clinical Biochemical Genetics from the National Institutes of Health.

    Dr. Phornphutkul's clinical practice is devoted to pediatric genetics and growth disorders. Her laboratory research is focused on the effect of IGF-I and nutrient on chondrogenesis and long bone growth. Dr. Phornphutkul is a member of the Society of Pediatric Research.

    More about Chanika Phornphutkul, MD


    1. Phornphutkul C, Boney CM, Gruppuso PA Presentation of Addison's disease: Hypoglycemia unawareness in an adolescent with insulin-dependent diabetes mellitus. Journal of Pediatrics 1998; 132:882-884.
    2. Phornphutkul C, Fausto-Sterling A, Gruppuso PA: Gender self-reassignment in an adolescent female pseudohermaphrodite. Pediatrics, 2000; 106:135-137.
    3. Phornphutkul C, Frick GP, Goodman HM, Berry SA, Gruppuso PA: Hepatic Growth Hormone Signaling in the late gestation fetal rat. Endocrinology, 2000; 141:3527-33.
    4. Phornphutkul C, Okuba T, Harel Z, Tracy T, Gruppuso PA, Chen S, Goodwin G: Molecular study of a feminizing adrenal tumor in an adolescent girl. Journal of Clinical Endocrinology and Metabolism, 2001; 86: 649-652.
    5. Falik-Zaccai TC, Anikster Y, Rivera CE, Horne MK 3rd, Schliamser L, Phornphutkul C, Attias D, Hyman T, White JG, Gahl WA: A New Genetic Isolate of Gray Platelet Syndrome (GPS): Clinical, Cellular, and Hematologic Characteristics. Molecular Genetics and Metabolism. 2001; 74: 303-13.
    6. Phornphutkul C, Anikster Y, Huizing M, Braun P, Brodie C, Chou JY, Gahl WA: The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region. American Journal of Human Genetics. 2001; 69: 712-21.
    7. Introne WJ, Phornphutkul C, Bernardini I, McLaughlin K, Fitzpatrick D, Gahl W: Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation. Molecular Genetics and Metabolism. 2002; 77:136.
    8. Phornphutkul C, Introne WJ, Perry M, Bernardini I, Murphey M, Fitzpatrick D, Anderson P, Huizing M, Anikster Y, Gerber L, Gahl W: Natural history of alkaptonuria. New England Journal of Medicine. 2002; 347: 2111-21.
    9. Sagen JV, Raeder H, Hathout ., Shehadeh N, Gudmundsson K, Baevre H, Abulo D., Phornphutkul C, Molnes J, Bell GI, Gloyn AL, Hattersley AT, Molven A, Sovik O, Njolstad PR: Permanent Neonatal Diabetes due to Mutations in KCNJ11 encoding Kir6.2: Patient Characteristics and Initial Response to Sulfonylurea Therapy. Diabetes. 2004; 53:2713-2718.
    10. Kleta R, Bernardini I, Ueda M, Phornphutkul C, Krasnewich D, Gahl WA: Long-term follow-up of well treated nephropathic cystinosis patients. Journal of Pediatrics. 2004; 145(4):555-60.
    11. Phornphutkul C., Wu KY, Chen Q, Gruppuso PA: IGF-I signaling is modified during chondrocyte differentiation. Journal of Endocrinology. 2004; 183(3):477-86.
    12. Suwannarat P, Phornphutkul C, Bernardini I, Turner M, Gahl WA: Minocycline-induced hyperpigmentation misdiagonosed as alkaptonuria in individuals with joint pain. Arthritis & Rheumatism. 2004; 50(11):3698-701.
    13. Phornphutkul C., Wu KY, Gruppuso PA: The Role of Insulin in Chondrogenesis. Molecular and Cellular Endocrinology. 2006; 249(1-2):107-15.
    14. Phornphutkul, C, Wu KY, Auyeung V, Chen Q, Gruppuso PA. The role of the mTOR nutrient signaling pathway in chondrocyte differentiation. Developmental Dynamics. 2008; 237,702-12.
    15. Sanders JA, Lakhani A, Phornphutkul C, Wu KY, Gruppuso PA. The effect of rapamycin on DNA synthesis in multiple tissues from late gestation fetal rats and postnatal rats. Submitted.
    16. A Novel Mutation of the Succinate Dehydrogenase D Gene In A Patient With Recurrent Pheochromocytoma And Functional Paraganglioma. Philips B, Phornphutkul C, Laufgraben M, The Endocrinologist. In press.