Endocrine Abstracts

Background: Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a autosomal recessive disorder with only up to 500 reported cases. It is characterized by generalized absence of fat since birth and severe metabolic derangements such as insulin resistance, hyperglycemia and dyslipidemia. Diabetes mellitus generally develops during the second or third decade of life. This is a rare clinical condition, with worldwide prevalence of 1 in 10 million people and incidence of 1:500.000 newborns/year in Portugal.

Patient and methods: 11-year-old caucasian boy was referred to the Pediatric Endocrinology consultation because of fasting hyperglycemia detected during routine blood tests. There was no history of polyuria, thirst or weight loss. He was medicated with antihypertensive medication since 6-years-old. Physical examination revealed a thin patient with acromegaloid features and severe acanthosis nigricans involving the posterior cervical region, axillary and periumbilical areas. Subcutaneous tissue atrophy was notoriously evident in the face, trunk and limbs. Secondary sexual characteristics were compatible with stage V of TANNER scale. Blood tests revealed hyperglycemia with hyperinsulinemia, dyslipidemia, low leptin, HOMA_IR index indicating insulin resistance, alterations in hepatic function suggesting fatty liver and all autoantibodies searched were negatives. Thyroid function, IGF-1 and Growth Hormone (GH) were within the normal range for age and sex. Abdominal ultrasounds revealed a hepatosplenomegaly.

Results: The presumptive diagnosis of BSCL was admitted and the patient was started on metformin 1000 mg twice daily. Pioglitazone, 30 mg/day in two divided doses was added three months later. After 18 months of treatment, glucose and triglycerides levels were near normal, hepatic enzymes, liver echographic features and cutaneous manifestation of insulin-resistance were improved. Leptin remained undetectable.

Conclusion: Early introduction of pioglitazone in diabetic patients with BSCL may dramatically improve insulin resistance without relevant side effects.

Keywords: Lypodystrophty, Berardinelli-Seip Syndrome, Insulin-resistance