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Mauriac syndrome

MedGen UID:
526123
•Concept ID:
C0221005
•
Disease or Syndrome
Synonym: Dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome
SNOMED CT: Mauriac's syndrome (80660001); Dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome (80660001); Mauriac syndrome (80660001)
 
Monarch Initiative: MONDO:0022435

Definition

A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Mauriac syndrome

Suggested Reading

PubMed

Discovery of a Genetic Metabolic Cause for Mauriac Syndrome in Type 1 Diabetes.
MacDonald MJ, Hasan NM, Ansari IU, Longacre MJ, Kendrick MA, Stoker SW
Diabetes 2016 Jul;65(7):2051-9. Epub 2016 Apr 5 doi: 10.2337/db16-0099. PMID: 27207549

Recent clinical studies

Etiology

Growth and development in type 1 diabetes.
Koren D
Curr Opin Endocrinol Diabetes Obes 2022 Feb 1;29(1):57-64. doi: 10.1097/MED.0000000000000694. PMID: 34864760
Glycogenic hepatopathy.
Khoury J, Zohar Y, Shehadeh N, Saadi T
Hepatobiliary Pancreat Dis Int 2018 Apr;17(2):113-118. Epub 2018 Feb 19 doi: 10.1016/j.hbpd.2018.02.006. PMID: 29709217
Growth in patients with type 1 diabetes.
Mitchell DM
Curr Opin Endocrinol Diabetes Obes 2017 Feb;24(1):67-72. doi: 10.1097/MED.0000000000000310. PMID: 27898589Free PMC Article
Mauriac syndrome still exists.
Dias J, Martins S, Carvalho S, Marques O, Antunes A
Endocrinol Nutr 2013 May;60(5):245-8. Epub 2013 Mar 26 doi: 10.1016/j.endonu.2012.12.005. PMID: 23540612
Mauriac syndrome: growth failure and type 1 diabetes mellitus.
Kim MS, Quintos JB
Pediatr Endocrinol Rev 2008 Aug;5 Suppl 4:989-93. PMID: 18806715

Diagnosis

Hepatopathy of Mauriac syndrome. The importance of therapeutic adherence.
Moreno Tirado A, González Lázaro P, Montero Benítez MZ, Jiménez Torrecilla P
Rev Esp Enferm Dig 2023 Nov;115(11):659-660. doi: 10.17235/reed.2023.9513/2023. PMID: 36779474
Hepatomegaly and short stature in a 14-year-old with type 1 diabetes mellitus: case report.
Fox MT, Tamaroff J, Percy AG, Baker S, Altshuler C, Baluyot M, Stewart RW
Fam Pract 2021 Jun 17;38(3):360-364. doi: 10.1093/fampra/cmaa114. PMID: 33215213
Glycogenic hepatopathy.
Khoury J, Zohar Y, Shehadeh N, Saadi T
Hepatobiliary Pancreat Dis Int 2018 Apr;17(2):113-118. Epub 2018 Feb 19 doi: 10.1016/j.hbpd.2018.02.006. PMID: 29709217
Hepatopathy of Mauriac syndrome: a retrospective review from a tertiary liver centre.
Fitzpatrick E, Cotoi C, Quaglia A, Sakellariou S, Ford-Adams ME, Hadzic N
Arch Dis Child 2014 Apr;99(4):354-7. Epub 2014 Jan 10 doi: 10.1136/archdischild-2013-304426. PMID: 24412980
Mauriac syndrome still exists.
Dias J, Martins S, Carvalho S, Marques O, Antunes A
Endocrinol Nutr 2013 May;60(5):245-8. Epub 2013 Mar 26 doi: 10.1016/j.endonu.2012.12.005. PMID: 23540612

Therapy

Glycogenic hepatopathy.
Khoury J, Zohar Y, Shehadeh N, Saadi T
Hepatobiliary Pancreat Dis Int 2018 Apr;17(2):113-118. Epub 2018 Feb 19 doi: 10.1016/j.hbpd.2018.02.006. PMID: 29709217
Type 1 diabetes: Syndromes in resource-challenged settings.
Nagesh VS, Kalra S
J Pak Med Assoc 2015 Jun;65(6):681-5. PMID: 26060173
Mauriac syndrome still exists.
Franzese A, Iorio R, Buono P, Mascolo M, Mozzillo E, Valerio G
Diabetes Res Clin Pract 2001 Dec;54(3):219-21. doi: 10.1016/s0168-8227(01)00298-4. PMID: 11689279
The Mauriac syndrome.
Mandell F, Berenberg W
Am J Dis Child 1974 Jun;127(6):900-2. doi: 10.1001/archpedi.1974.02110250126021. PMID: 4834782
The Mauriac syndrome.
Najjar S, Ayash MA
Clin Pediatr (Phila) 1974 Sep;13(9):723-5. doi: 10.1177/000992287401300904. PMID: 4416595

Prognosis

Elevated lactate in Mauriac syndrome: still a mystery.
Touilloux B, Lu H, Campos-Xavier B, Superti-Furga A, Hauschild M, Bouthors T, Tran C
BMC Endocr Disord 2021 Aug 21;21(1):172. doi: 10.1186/s12902-021-00835-1. PMID: 34419042Free PMC Article
Glycogenic hepatopathy.
Khoury J, Zohar Y, Shehadeh N, Saadi T
Hepatobiliary Pancreat Dis Int 2018 Apr;17(2):113-118. Epub 2018 Feb 19 doi: 10.1016/j.hbpd.2018.02.006. PMID: 29709217
Growth in patients with type 1 diabetes.
Mitchell DM
Curr Opin Endocrinol Diabetes Obes 2017 Feb;24(1):67-72. doi: 10.1097/MED.0000000000000310. PMID: 27898589Free PMC Article
Mauriac syndrome: growth failure and type 1 diabetes mellitus.
Kim MS, Quintos JB
Pediatr Endocrinol Rev 2008 Aug;5 Suppl 4:989-93. PMID: 18806715
The Mauriac syndrome.
Mandell F, Berenberg W
Am J Dis Child 1974 Jun;127(6):900-2. doi: 10.1001/archpedi.1974.02110250126021. PMID: 4834782

Clinical prediction guides

Glycogenic hepatopathy.
Khoury J, Zohar Y, Shehadeh N, Saadi T
Hepatobiliary Pancreat Dis Int 2018 Apr;17(2):113-118. Epub 2018 Feb 19 doi: 10.1016/j.hbpd.2018.02.006. PMID: 29709217
Clinical, Biochemical, and Histopathology Features of Patients With Glycogenic Hepatopathy.
Mukewar S, Sharma A, Lackore KA, Enders FT, Torbenson MS, Kamath PS, Roberts LR, Kudva YC
Clin Gastroenterol Hepatol 2017 Jun;15(6):927-933. Epub 2016 Dec 30 doi: 10.1016/j.cgh.2016.11.038. PMID: 28043933
Growth in patients with type 1 diabetes.
Mitchell DM
Curr Opin Endocrinol Diabetes Obes 2017 Feb;24(1):67-72. doi: 10.1097/MED.0000000000000310. PMID: 27898589Free PMC Article
Hepatopathy of Mauriac syndrome: a retrospective review from a tertiary liver centre.
Fitzpatrick E, Cotoi C, Quaglia A, Sakellariou S, Ford-Adams ME, Hadzic N
Arch Dis Child 2014 Apr;99(4):354-7. Epub 2014 Jan 10 doi: 10.1136/archdischild-2013-304426. PMID: 24412980
Periodontal findings in a patient with Mauriac syndrome: a case report.
Avula H
Spec Care Dentist 2012 Mar;32(2):66-9. doi: 10.1111/j.1754-4505.2012.00246.x. PMID: 22416989

Recent systematic reviews

Liver chemistries in glycogenic hepatopathy associated with type 1 diabetes mellitus: A systematic review and pooled analysis.
Haffar S, Izzy M, Habib H, Sugihara T, Li DK, Sharma A, Wang Z, Murad MH, Watt KD, Bazerbachi F
Liver Int 2021 Jul;41(7):1545-1555. Epub 2021 Feb 28 doi: 10.1111/liv.14827. PMID: 33595181

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