What is Mauriac Syndrome?

Patient Presentation
A 12.5-year-old female was referred to endocrinology for short stature.
She has been followed intermittently by the endocrinologists for type 1 diabetes melitis for 4 years.
Her last visit was 1 year ago and she was showing some growth slowing at that time.
Laboratory testing at that time showed normal thyroid and insulin- like growth factors (IGF) tests, a hemoglobin A1c of 9%, and a bone age that was 16 months delayed.
Her father states that she checks her blood sugars several times a day and they generally run “low.”The patient does not have any signs of puberty yet.
The past medical history shows difficult control of the diabetes.
The patient is on a standard insulin regimen with meals and a sliding scale for corrections. Parents and patient do not know the sliding scale.
The family history showed the Mother is 5’1″. Father and brother are 5’6″. Sister is 5’2″ and maternal grandmother is 4’10″.
Brother and sister are adults and menarche in the maternal family occurs at ~11-12 years of age.
The review of systems was negative.
The pertinent physical exam showed normal vital signs with a weight of 29.8 kg (50% for a 9.5 year old) and a height of 129.3 cm (50% for a 8.5 year old).
She had no dysmorphic features, but a rounded, moonish face.
She had a protuberant abdomen that revealed a liver edge to the umbilicus without splenomegaly or other masses.
She was Tanner stage I for pubic hair and breasts. She had extra nuchal fat.
A working diagnosis of Mauriac syndrome was made but other testing for other diseases was done.
The laboratory evaluation included
thyroid testing, celiac disease testing, leutenizing hormone and follicle stimulating hormone, insulin-like growth factors, hepatitis screening, and a complete blood count were all negative.
The liver function tests were elevated with aspartate aminotrassferase 1538 U/L (normal 10-40), alanine aminotransferase 782 U/L (normal 5-20) and a normal albumin.
The radiologic evaluation of a right upper quadrant ultrasound revealed a liver span of 16 cm that was homogeneous without focal lesions.
She was seen by the gastroenterologists and was admitted for a liver biopsy which showed homogeneous glycogen deposition in the hepatocytes.
The diagnosis of Mauriac syndrome was made and the patient was begun on strict diabetes control initiated in the hospital.

Discussion
Patients with type 1 diabetes mellitus may have growth failure for many reasons including insulin deficiency, poor glycemic control, concurrent autoimmune diseases, and decreased caloric intake and/or eating disorders.
Autoimmune diseases that are more common include Addison’s disease, autoimmune gastritis, celiac disease and hypothyroidism.
Prior to treatment with long-acting insulin, delays in growth and sexual maturity were common but generally modest.
Even today with good treatment, patients may have subtle abnormalities of growth (both weight and height) due to abnormalities of the IGF-1 and growth hormone axis.

Learning Point
Mauriac syndrome is a severe form of growth retardation seen in patients with poorly controlled type 1 diabetes mellitus.
It is characterized by growth failure, delayed puberty, hepatomegaly and Cushingoid features.
It is often referred to as diabetic dwarfism.
The actual cause is unknown but is probably a combination of factors including inadequate glucose in the tissues, decreased IGF-1 and growth hormone levels, impaired bioactivity of the hormones, a circulating hormone inhibitor, or resistant or defective hormone receptors.
The hepatomegaly seen in Mauriac syndrome is not seen in newly diagnosed patients who have been severely insulin deficient because it appears that periods of supraphysiologic insulin levels are associated with the hepatomegaly.

Mauriac syndrome was much more common before long-acting insulin and knowledge of glycemic control (including monitoring of hemoglobin A1c’s) was available and is relatively rare today because of these treatments.
It occurs in males and females equally and is most common in adolescence although there are reports in children as young as toddlers and in adults.

Improved glycemic control helps to reverse the process, but catch-up growth may not be complete.
Aggressive insulin treatment also may cause rapid advancement of retinopathy and nephropathy so a delicate balance in strict control but not over control is necessary.

Questions for Further Discussion
1. How long after diagnosis of type 1 diabetes mellitus, should screening for retinopathy and nephropathy occur?
2. How common are eating disorders and suicidal gestures in patients with type 1 diabetes mellitus?
3. What is the role of mental health professionals in the treatment of poorly-controlled diabetics?

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Type 1 Diabetes Mellitus

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

Lehman RM. Poorly Controlled Diabetes?
Adolesc Med. 1996 Oct;7(3):405-408.

Franzese A, Iorio R, Buono P, Mascolo M, Mozzillo E, Valerio G. Mauriac syndrome still exists.
Diabetes Res Clin Pract. 2001 Dec;54(3):219-21.

Kim MS, Quintos JB. Mauriac syndrome: growth failure and type 1 diabetes mellitus.
Pediatr Endocrinol Rev. 2008 Aug;5 Suppl 4:989-93.

ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    7. All medical and invasive procedures considered essential for the area of practice are competently performed.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.

  • Interpersonal and Communication Skills
    19. The health professional works effectively with others as a member or leader of a health care team or other professional group.

  • Systems Based Practice
    23. Differing types of medical practice and delivery systems including methods of controlling health care costs and allocating resources are known.
    24. Cost-effective health care and resource allocation that does not compromise quality of care is practiced.

    Author
    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital

    Date
    January 12, 2009