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Endocrine Abstracts (2024) 99 EP188 | DOI: 10.1530/endoabs.99.EP188

Cairo University, Internal medicine, endocrinology, Cairo, Egypt


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.

Volume 99

26th European Congress of Endocrinology

Stockholm, Sweden
11 May 2024 - 14 May 2024

European Society of Endocrinology 

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