Background: Mauriac's syndrome (MS) may occur in patients with poor controlled type 1 diabetes mellitus (DM1), with often ketoacidosis, episodes of hyperglycemia and hypoglycemia, under the dose insulin. MS characterized growth retardation and puberty delay, Cushingoid obesity, moon facies, protuberant abdomen, hepatomegaly with transaminase elevation, dyslipidemia. Now it is a rare syndrome, firstly described by Mauriac in 1930.
Case presentation: We report a case of 16-year-old girl with 12-years hystory of poor controlled type 1 diabetes mellitus and Mauriac's syndrome. The patient lived in a polar village, far from diabetology centers. She had few ketoacidosis and severe hypoglycemia episodes every year with treatment in hospitals. The patient was admitted in our diabetes clinic with hyperglycemia 360 mg per deciliter, and high level of HbA1c (14.2%), hepatomegaly, short stature and absence of secondary sex indications. On examination, the weight 45.2 kg, the height 136 cm (less than 2SD) and the body-mass index 25.5. The skin was dry. Cushingoid obesity, moon facies, protuberant abdomen. The lungs were clear; the blood pressure was 160/100 mm Hg, the pulse 85 beats per minute. Ultrasonography of the abdomen revealed a fatty liver. Pubertal formula by Tanner: P1A1Ma1, amenorrhea. Her blood level of thyrotropin was 1.8 μU per milliliter, free T4 13.8 pmol per liter; LH 0.6 mU per liter; FSH 0.5 mU per liter. Somatotropin was elevated, but Insulin-like growth factor 1 (IGF-1, Somatomedin C) was decreased. Biochemical tests revealed high total cholesterol 6.5 mmol per liter, cholesterol LPH 1.2 mmol per liter. Diabetes treatment: diet, insulin glargine and humalog in regime of multiple daily injections, 1.2 IU\ kg, diabetes education. After 3 months HbA1c was 7.4%; glycaemia 8.0 180.0 mg per deciliter, the girl grew 6 cm and the liver sizes were normal.
Conclusions: Mauriac's syndrome is an uncommon condition resulting from poorly controlled DM1 in childhood and adolescence. Most clinical features of MS are reversible with improved glycemic control.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology