Mauriac syndrome

Overview

Mauriac syndrome is a rare complication of poorly controlled type 1 diabetes mellitus (T1DM) in children and adolescents, characterized by a combination of growth retardation, delayed puberty, hepatomegaly (enlarged liver), and cushingoid features such as a round face and central obesity. First described by French physician Pierre Mauriac in 1930, the syndrome was more common before the advent of modern insulin therapy and is now considered a clinical rarity due to improved diabetes management.

The syndrome typically affects children who have had long-standing, inadequately managed diabetes, often with recurrent episodes of ketoacidosis and chronic hyperglycemia. Early recognition and correction of glycemic control are essential to reversing many of its features and preventing long-term complications.

Causes

Mauriac syndrome is caused by chronic poor glycemic control in individuals with type 1 diabetes mellitus, especially during the years of active growth and puberty. Several mechanisms are believed to contribute to its development:

• Insulin deficiency or irregular insulin therapy: Leads to persistent hyperglycemia, which impairs cellular glucose uptake and inhibits growth and maturation.

• Glycogen accumulation in the liver: Due to alternating periods of insulin administration and poor metabolic control, leading to hepatomegaly.

• Endocrine dysfunction: Chronic hyperglycemia and catabolic metabolism may suppress the hypothalamic-pituitary-gonadal axis, leading to delayed puberty.

• Malnutrition and energy imbalance: Poor nutrient utilization impairs weight gain and linear growth.

Mauriac syndrome is largely preventable with proper diabetes education, insulin management, and regular medical supervision.

Symptoms

The clinical presentation of Mauriac syndrome typically includes a distinct set of signs and symptoms that arise during childhood or adolescence in the setting of long-standing, poorly controlled type 1 diabetes. Common features include:

• Growth retardation: Affected children are often significantly shorter than their peers and fail to follow expected growth curves.

• Delayed puberty: Absence or delayed development of secondary sexual characteristics due to hypogonadism.

• Hepatomegaly: Enlargement of the liver due to excessive glycogen deposition; the liver is usually soft and non-tender.

• Cushingoid appearance:

  • Moon face

  • Central obesity

  • Thin limbs

• Hyperglycemia and ketosis: Ongoing signs of poorly managed diabetes including frequent episodes of diabetic ketoacidosis (DKA).

• Fatigue and weakness

• Dry skin and brittle hair

Despite the outward signs of obesity, children with Mauriac syndrome often have low muscle mass and poor overall nutritional status.

Diagnosis

Diagnosis of Mauriac syndrome is primarily clinical and is supported by a history of type 1 diabetes mellitus with poor glycemic control and the presence of its characteristic features. Diagnostic steps include:

• Medical history:

  • Longstanding poorly controlled T1DM

  • History of recurrent DKA

• Physical examination:

  • Short stature, delayed pubertal development, moon face, abdominal distension

• Growth assessment:

  • Height and weight below the 3rd percentile

• Laboratory tests:

  • Elevated HbA1c indicating poor long-term glucose control

  • Elevated liver enzymes in some cases

  • Normal or low levels of IGF-1 and gonadotropins (LH, FSH)

• Imaging:

  • Abdominal ultrasound showing hepatomegaly without focal lesions

Differential diagnoses include glycogen storage diseases, Cushing syndrome, and other forms of hepatic or endocrine dysfunction. Genetic testing is generally not required.

Treatment

The cornerstone of treatment for Mauriac syndrome is the restoration of proper metabolic control through optimized diabetes management. Key components include:

• Intensive insulin therapy:

  • Basal-bolus insulin regimens or insulin pump therapy to stabilize blood glucose levels

  • Frequent blood glucose monitoring to adjust insulin doses

• Dietary management:

  • Nutritional counseling to ensure adequate caloric and protein intake to support catch-up growth

  • Balanced carbohydrate distribution to avoid extreme glucose fluctuations

• Endocrine follow-up:

  • Monitoring of pubertal development and hormone levels

  • Consideration of growth hormone or sex hormone therapy if no spontaneous recovery occurs

• Psychosocial support:

  • Address emotional and behavioral issues associated with chronic illness and delayed growth

  • Diabetes education for the child and family to improve compliance

Regular follow-up with a pediatric endocrinologist and diabetes care team is essential for successful management.

Prognosis

The prognosis of Mauriac syndrome largely depends on the timeliness and effectiveness of treatment. With improved glycemic control:

• Linear growth can resume and children may approach their genetically predicted adult height.

• Pubertal development may normalize without the need for hormonal therapy in many cases.

• Hepatomegaly often regresses over several months.

If left untreated, Mauriac syndrome can lead to long-term complications of uncontrolled diabetes including nephropathy, retinopathy, and cardiovascular disease. Fortunately, with modern insulin regimens, early recognition, and intensive diabetes management, the syndrome is now rare and largely reversible.

Raising awareness of Mauriac syndrome remains important in regions with limited access to diabetes care, where cases may still occur due to inadequate treatment and education.