Endocrine Abstracts

Introduction: Mauriac syndrome (MS) is considered a glycogenic hepatopathy characterized by growth failure, delayed puberty, hepatomegaly with abnormal liver enzymes, hypercholesterolemia. These features were attributed mainly to insulin deficiency and sub-optimal diabetic management

Case report: 18 years old male, presented with short stature and delayed puberty. The patient was diagnosed to have type 1 DM at the age of 6. He was on a premixed insulin regimen but non compliant to treatment. His disease course was complicated by diabetic retinopathy, and neuropathy frequent admissions for recurrent diabetic ketoacidosis (DKA) There was a history of right hypochondrial dragging pain with no jaundice

Physical examination: Height was 145 cm, <3rd percentile, proportionate. BMI was 19.9 kg/m², mid-parental height was 168 cm. Blood pressure: 110/70 mm Hg, Pulse: 80/mint, normal RR and temperature. Absent secondary sexual characters and infantile male genitalia tanner stage 1 The abdominal examination showed soft hepatomegaly. liver span of 22 cm Cardiac and chest examination were normal

Investigations: HbA1c was 9.9%, A/C ratio: 500 mg/g His hepatic panel revealed high ALP: 490 U/l (N: 40-150 U/l), high liver transaminases. ALT: 235 U/l(10-50 U/l), AST: 259 U/l (N: 0-38 U/l) cholesterol: 319 mg/dl, LDL: 233 mg/dl, Serum triglycerides: 191 mg/dl Thyroid function test was normal LH: 0.22 mIU/ml (1.7-8.6 mIU/ml) FSH: 1.9 mIU/ml(N: 1.5-12.1) Total testosterone: <0.025 ng/ml (2.5 -8.4) indicative of hypogonadotropic hypogonadism ANA: 29 IU/ml, Anti -DNA, Anti–LKM, ASMA, anti-TTG IgA: negative Normal Ceruloplasmin: 24 hr urinary copper, HbsAg and HCV Ab: negative Abdominal ultrasound: Enlarged liver with uniform soft fatty echo pattern, span of right lobe 22 cm, bone age: 13 years The patient was prescribed a basal-bolus insulin regimen With improvement of his blood glucose, liver enzymes. And liver size decreased significantly. follow-up labs after 6 weeks: ALT: 54 U/l, AST: 40 U/l, ALP: 292 U/l, GGT: 44 U/l LH: 2.8 mIU/ml, FSH: 4.3 mIU/ml, Total testosterone: 0.2 ng/ml During his follow-up, he got his puberty, and his final height was 149 cm.

Conclusion: In spite of advancement in diabetic management, MS a rare complication in poorly controlled T1DM still exists. A high index of suspicion is needed in T1DM with delayed growth and puberty since good metabolic control could reverse this rare condition.