Skip to content
Licensed Unlicensed Requires Authentication Published by De Gruyter July 18, 2016

A girl with permanent neonatal diabetes due to KCNJ11 mutation presented with Mauriac syndrome after improper adjustment in sulfonylurea dosage over 6 years

  • Rapeepun Chai-udom , Taninee Sahakitrungruang , Suttipong Wacharasindhu and Vichit Supornsilchai EMAIL logo


Mauriac syndrome is characterized by growth impairment, Cushingoid features, and hepatomegaly in patients with poorly controlled type 1 diabetes mellitus (T1DM). We report a novel presentation of Mauriac syndrome in a 9-year-old girl who was diagnosed with neonatal diabetes at 3 months of age due to the p.R201C mutation in KCNJ11. She was initially treated successfully with glipizide at a dose of 0.85 mg/kg/day but after being lost to follow-up and having improper adjustment in dose over many years, the recent dose of 0.6 mg/kg/day appears to have been insufficient for glycemic control but enough to maintain a low level of C-peptide and prevent diabetic ketoacidosis. With proper insulin administration, all presenting clinical characteristics were resolved within 1 month. A review of the literature relating to clinical manifestations of Mauriac syndrome in children with diabetes was performed and included in this report for comparison with our patient. While Mauriac syndrome has been traditionally associated with T1DM, the presence of Mauriac syndrome should not be excluded in other types of diabetes mellitus.

Corresponding author: Vichit Supornsilchai, MD, PhD, Division of Endocrinology, Department of Pediatrics, King Chulalongkorn Memorial Hospital, Sor Kor Building, 11th Floor, Bangkok 10330, Thailand, Phone: +662-256-4989, Fax: +662-256-4911


The authors gratefully acknowledge the patient, parents and all pediatric residents and fellows at King Chulalongkorn Memorial Hospital for providing exceptional patient care.

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


1. Patidar PP, Philip R, Saran S, Gupta KK. A rare case of Mauriac syndrome. Indian J Endocrinol Metab 2012;16:486–7.10.4103/2230-8210.95759Search in Google Scholar

2. Dias J, Martins S, Carvalho S, Marques O, Antunes A. Mauriac syndrome still exists. Endocrinol Nutr 2013;60:245–8.10.1016/j.endonu.2012.12.005Search in Google Scholar

3. Franzese A, Iorio R, Buono P, Mascolo M, Mozzillo E, et al. Mauriac syndrome still exists. Diabetes Res Clin Pract 2001;54:219–21.10.1016/S0168-8227(01)00298-4Search in Google Scholar

4. Iafusco D, Zanfardino A, D'Alessandro L, Prisco F. Improper insulin compliance may lead to hepatomegaly and elevated hepatic enzymes in type 1 diabetic patients: response to Yu and Howard. Diabetes care 2004;27:2094–5.10.2337/diacare.27.8.2094Search in Google Scholar

5. Lee RG, Bode HH. Stunted growth and hepatomegaly in diabetes mellitus. J Pediatr 1977;91:82–4.10.1016/S0022-3476(77)80452-6Search in Google Scholar

6. Mahesh S, Karp RJ, Castells S, Quintos JB. Mauriac syndrome in a 3-year-old boy. Endocr Pract 2007;13:63–6.10.4158/EP.13.1.63Search in Google Scholar

7. Mandell F, Berenberg W. The Mauriac syndrome. Am J Dis Child 1974;127:900–2.10.1001/archpedi.1974.02110250126021Search in Google Scholar

8. Mauras N, Merimee T, Rogol AD. Function of the growth hormone-insulin-like growth factor I axis in the profoundly growth-retarded diabetic child: evidence for defective target organ responsiveness in the Mauriac syndrome. Metabolism 1991;40:1106–11.10.1016/0026-0495(91)90138-MSearch in Google Scholar

9. Najjar S, Ayash MA. The Mauriac syndrome. Clin Pediatr (Phila) 1974;13:723–5.10.1177/000992287401300904Search in Google Scholar PubMed

10. Mauriac P. Gros ventre, hepatomegalie, troubles de las croissance chez les enfants diabetiques traites depuis plesieus annes par l’insuline. Gaz Hebd Sci Med Bordeaux 1930;26:402–10.Search in Google Scholar

11. Wasserman H, Hufnagel RB, Miraldi Utz V, Zhang K, Valencia CA, et al. Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation. Pediatr Diabetes 2015.10.1111/pedi.12335Search in Google Scholar PubMed PubMed Central

12. Lafusco D, Bizzarri C, Cadario F, Pesavento R, Tonini G, et al. No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes. Diabetologia 2011;54:2736–8.10.1007/s00125-011-2273-7Search in Google Scholar

13. Proks P, Girard C, Ashcroft FM. Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP. Hum Mol Genet 2005;14:2717–26.10.1093/hmg/ddi305Search in Google Scholar

14. Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, et al; Neonatal Diabetes International Collaborative Group. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006;355:467–77.10.1056/NEJMoa061759Search in Google Scholar

15. Stanik J, Gasperikova D, Paskova M, Barak L, Javorkova J, et al. Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. J Clin Endocrinol Metab 2007;92:1276–82.10.1210/jc.2006-2490Search in Google Scholar

16. Tonini G, Bizzarri C, Bonfanti R, Vanelli M, Cerutti F, et al. Sulfonylurea treatment outweighs insulin therapy in shortterm metabolic control of patients with permanent neonatal diabetes due to activating mutations of the KCNJ11 (Kir 6.2) gene. Diabetologia 2006;49:2210–3.10.1007/s00125-006-0329-xSearch in Google Scholar

17. Babiker T, Vedovato N, Patel K, Thomas N, Finn R, et al. Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes. Diabetologia 2016;59:1162–6.10.1007/s00125-016-3921-8Search in Google Scholar

18. Thurber BW, Carmody D, Tadie EC, Pastore AN, Dickens JT, et al. Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes. Diabetologia 2015;58:1430–5.10.1007/s00125-015-3593-9Search in Google Scholar

19. Matthews DR, Cull CA, Stratton IM, Holman RR, Turner RC. UKPDS 26: Sulphonylurea failure in non-insulin-dependent diabetic patients over six years. UK Prospective Diabetes Study (UKPDS) Group. Diabet Med 1998;15:297–303.10.1002/(SICI)1096-9136(199804)15:4<297::AID-DIA572>3.0.CO;2-WSearch in Google Scholar

20. Remedi MS, Nichols CG. Chronic antidiabetic sulfonylureas in vivo: reversible effects on mouse pancreatic beta-cells. PLoS Med 2008;5:e206.10.1371/journal.pmed.0050206Search in Google Scholar

21. Begum-Hasan J, Polychronakos C, Brill H. Familial permanent neonatal diabetes with KCNJ11 mutation and the response to glyburide therapy–a three-year follow-up. J Pediatr Endocrinol Metab 2008;21:895–903.10.1515/JPEM.2008.21.9.895Search in Google Scholar

22. Klupa T, Skupien J, Mirkiewicz-Sieradzka B, Gach A, Noczynska A, et al. Efficacy and safety of sulfonylurea use in permanent neonatal diabetes due to KCNJ11 gene mutations: 34-month median follow-up. Diabetes Technol Ther 2010;12:387–91.10.1089/dia.2009.0165Search in Google Scholar

23. Wagner VM, Kremke B, Hiort O, Flanagan SE, Pearson ER. Transition from insulin to sulfonylurea in a child with diabetes due to a mutation in KCNJ11 encoding Kir6.2 – initial and long-term response to sulfonylurea therapy. Eur J Pediatr 2009;168:359–61.10.1007/s00431-008-0757-3Search in Google Scholar

24. Marcio F, Vendramini LC, Regina S. Long-term response to sulfonylurea in a patient with diabetes due to mutation in the KCNJ11 gene. Moisés Arq Bras Endocrinol Metab 2010;54:682–4.10.1590/S0004-27302010000800003Search in Google Scholar

25. Busiah K, Drunat S, Vaivre-Douret L, Bonnefond A, Simon A, et al. Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected]. Lancet Diabetes Endocrinol 2013;1:199–207.10.1016/S2213-8587(13)70059-7Search in Google Scholar

26. Shah RP, Spruyt K, Kragie BC, Greeley SA, Msall ME. Visuomotor performance in KCNJ11-related neonatal diabetes is impaired in children with DEND-associated mutations and may be improved by early treatment with sulfonylureas. Diabetes care 2012;35:2086–8.10.2337/dc11-2225Search in Google Scholar PubMed PubMed Central

Received: 2016-2-22
Accepted: 2016-6-1
Published Online: 2016-7-18
Published in Print: 2016-9-1

©2016 Walter de Gruyter GmbH, Berlin/Boston

Downloaded on 7.6.2023 from
Scroll to top button