Mauriac Syndrome: Growth and Clinical Outcomes After 2.5 Years of Automated Insulin Delivery Treatment

TL;DR

A teenager with poorly controlled type 1 diabetes showed symptoms of Mauriac syndrome, but improved after switching to automated insulin delivery.

Contribution

Demonstrates that automated insulin delivery can effectively treat Mauriac syndrome and reverse its complications.

Findings

Automated insulin delivery reduced HbA1c and normalized liver enzymes in a patient with Mauriac syndrome.

The patient experienced puberty progression and increased growth after treatment.

Growth failure and delayed puberty can precede hepatic glycogenosis in Mauriac syndrome.

Abstract

Mauriac syndrome is a rare complication of type 1 diabetes mellitus (T1D) with chronically elevated hemoglobin A1C (HbA1c) that is characterized by short stature, delayed puberty, cushingoid features, and hepatic glycogenosis. We report a 14-year-old male patient with T1D managed with multiple daily insulin injections who presented with growth failure and delayed puberty in the setting of several years of HbA1c > 12% (SI: > 108 mmol/mol) (reference range, < 5.7% [SI: < 39 mmol/mol]). He was initially suspected to have growth hormone deficiency, failed a growth hormone stimulation test and received growth hormone treatment without an increase in height velocity. After several months, he presented with abdominal distention due to new hepatomegaly. Laboratory evaluation revealed transaminitis with normal synthetic function and absence of cholestasis. Liver biopsy confirmed hepatic glycogenosis. Treatment included T1D management re-education, psychosocial support, and transition to automated insulin delivery (AID). AID resulted in decreased HbA1c level, normalized liver enzymes, resolution of hepatomegaly, puberty progression, and increased linear growth in line with his mid-parental height. This patient demonstrated that growth failure and delayed puberty can precede hepatic glycogenosis and that AID is a safe and effective treatment option for patients with Mauriac syndrome.

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