Endocrine Abstracts

Introduction: Mauriac syndrome is characterized by delayed growth and development, obesity, hepatomegaly and elevated transaminases in type 1 diabetes mellitus (T1DM) patients who have poor glycaemic control. Usually recognized in adolescence, when growth failure and pubertal delay became notorious.

Case report: A 19-year-old male was referred to the Endocrinology Department due to short stature. He was severely distressed about his stature and younger appearance which were negatively impacting his search for a job. The boy was diagnosed with type 1 Diabetes Mellitus (T1DM) at age 2. Records showed no history of ketoacidosis, average A1c 9–11%, GFR 98 ml/min/BSA. He was visiting the diabetologist every 3 months. There were no other relevant antecedents. He was proportionate, had a non-syndromic phenotype and seem to be 15 years old. He measured 154 cm (–3.06 SDS WHO), BMI 19.8 kg/m² (–0.87 SDS WHO) at age 19. Predicted adult height was 181 cm. He was Tanner stage 4 (G4P4Ac) with testicles of 25 ml bilaterally and bone age was delayed –3.5 years. From records of the past 4 years we extracted constant bone age delay around –3 years. Puberty had started at the chronological age of 15 and progressed according to bone age but there was no growth spurt. From age 16 he grew per year 2.5 cm, 1 cm, 0.5 cm. Routine tests for the investigation of short stature were normal except for low IGF-1 for age, sex and even when adjusted for Tunner stage and bone age (92 ng/ml RR 243–527). There was an adequate response to provocative testing (GH > 10 ng/ml). Selar RMI was normal. Abdominal US confirmed steatosis and dual-energy x-ray absorptiometry documented compromised bone health with a lumbar and femoral score of –4.1 and –3.3 respectively. Despite patient education and several attempts to intensify and optimize glycaemic control, there were no significant changes on A1c nor in IGF1 levels. He grew 0 cm during the last year.

Conclusions: Our report alerts physicians for the developmental complications associated with insufficient management of diabetes mellitus. The adequate management of T1DM in adolescents is very challenging and once the struggling adolescent is confronted with severe and possibly irreversible complications of the disease the challenge is made harder. Precocious patient education with familiar involvement through childhood should be mainstream. Mauriac syndrome is severe and although reversible with good and sustained glycaemic control, the best intervention strategy is it’s prevention.