Rabson-Mendenhall syndrome (RMS) is a rare autosomal recessive inherited disease marked by insulin resistance. Mutations in the insulin receptor gene seem to be the fundamental mechanism behind this type A insulin-resistant illness. Statural growth retardation, acanthosis nigricans, hypertrichosis, dysmorphia and coarse facial features, dysplastic dentition, enlarged external genitalia, postprandial hyperglycemia and paradoxical fasting hypoglycemia, severe hyperinsulinemia and potentially onset of ketoacidosis are the symptoms of this syndrome. Because there are few therapy choices for this illness and treating hyperglycemia is a difficult undertaking, a multi-disciplinary approach is crucial to managing this difficult clinical condition. We relate the case of a young male patient, after parental consent, with features of RMS suspected in the presence of dysmorphic syndrome and insulin resistance.
References
[1]
Hassan, I., Altaf, H. and Yaseen, A. (2014) Rabson-Mendenhall Syndrome. Indian Journal of Dermatology, 59, Article 633.
[2]
Longo, N. (2002) Genotype-Phenotype Correlation in Inherited Severe Insulin Resistance. Human Molecular Genetics, 11, 1465-1475. https://doi.org/10.1093/hmg/11.12.1465
[3]
Kadowaki, T., Kadowaki, H., Accili, D. and Taylor, S.I. (1990) Substitution of Lysine for Asparagine at Position 15 in the Alpha-Subunit of the Human Insulin Receptor. A Mutation That Impairs Transport of Receptors to the Cell Surface and Decreases the Affinity of Insulin Binding. Journal of Biological Chemistry, 265, 19143-19150. https://doi.org/10.1016/s0021-9258(17)30636-1
[4]
Parveen, B.A. and Sindhuja, R. (2008) Rabson–Mendenhall Syndrome. International Journal of Dermatology, 47, 839-841. https://doi.org/10.1111/j.1365-4632.2008.03591.x
[5]
Hattersley, A.T., Greeley, S.A.W., Polak, M., Rubio-Cabezas, O., Njølstad, P.R., Mlynarski, W., et al. (2018) ISPAD Clinical Practice Consensus Guidelines 2018: The Diagnosis and Management of Monogenic Diabetes in Children and Adolescents. Pediatric Diabetes, 19, 47-63. https://doi.org/10.1111/pedi.12772
[6]
Rao, G. (2001) Insulin Resistance Syndrome. American Family Physician, 63, 1159-1165.
[7]
Tullu, M., Muranjan, M., Kamat, J. and Kumar, S. (2005) Rabson-Mendenhall Syndrome. Indian Journal of Medical Sciences, 59, 70-73. https://doi.org/10.4103/0019-5359.13906
[8]
Sen, S., Roy, A., Gangopadhyay, A. and Halder, C. (2012) Leprechaunism—A Case Report. Indian Journal of Dermatology, 57, 499-501. https://doi.org/10.4103/0019-5154.103077
[9]
Moreira, R.O., Zagury, R.L., Nascimento, T.S. and Zagury, L. (2010) Multidrug Therapy in a Patient with Rabson–Mendenhall Syndrome. Diabetologia, 53, 2454-2455. https://doi.org/10.1007/s00125-010-1879-5
[10]
McDonald, A., Williams, R.M., Regan, F.M., Semple, R.K. and Dunger, D.B. (2007) IGF-I Treatment of Insulin Resistance. European Journal of Endocrinology, 157, S51-S56. https://doi.org/10.1530/eje-07-0271
[11]
Cochran, E., Young, J.R., Sebring, N., DePaoli, A., Oral, E.A. and Gorden, P. (2004) Efficacy of Recombinant Methionyl Human Leptin Therapy for the Extreme Insulin Resistance of the Rabson-Mendenhall Syndrome. The Journal of Clinical Endocrinology & Metabolism, 89, 1548-1554. https://doi.org/10.1210/jc.2003-031952
[12]
Longo, N. (1994) Impaired Growth in Rabson-Mendenhall Syndrome: Lack of Effect of Growth Hormone and Insulin-Like Growth Factor-I. Journal of Clinical Endocrinology & Metabolism, 79, 799-805. https://doi.org/10.1210/jc.79.3.799
[13]
Musso, C., Cochran, E., Moran, S.A., Skarulis, M.C., Oral, E.A., Taylor, S., et al. (2004) Clinical Course of Genetic Diseases of the Insulin Receptor (Type A and Rabson-Mendenhall Syndromes). Medicine, 83, 209-222. https://doi.org/10.1097/01.md.0000133625.73570.54
[14]
Paz-Filho, G., Mastronardi, C.A. and Licinio, J. (2015) Leptin Treatment: Facts and Expectations. Metabolism, 64, 146-156. https://doi.org/10.1016/j.metabol.2014.07.014
[15]
Epstein, F.H., Moller, D.E. and Flier, J.S. (1991) Insulin Resistance—Mechanisms, Syndromes, and Implications. New England Journal of Medicine, 325, 938-948. https://doi.org/10.1056/nejm199109263251307
