Endocrine Abstracts

Introduction: Lipodystrophies are a group of genetic or acquired diseases characterized by abnormal adipose tissue deposition, frequently associated with insulin resistance, diabetes mellitus, dyslipidaemia, hypertension and hepatic steatosis. Congenital generalized lipodystrophy (LCG) is a well-defined syndrome with autosomal recessive heredity, prevalence <1:10million, with about 400 cases being described. Extreme shortage of subcutaneous adipose tissue, muscle hypertrophy and other adipose tissues, confer an acromegaloid-like appearance in patients with LCG, however no case of SBS and acromegaly has been reported.

Clinical case: 63-year-old man appealed to endocrinology clinic for suspected lipodystrophy. He had lipoatrophy of upper and lower limbs, muscular prominence, acromegaly facies with thick lips, widening of the wings of the nose, creased nasolabial grooves, dental diastema, prominence of supraciliary arches, large hands and feet and soft tissue tumescence. No acanthosis nigricans. None of the parents had changes in body composition or diabetes. His 59-year-old sister has similar phenotype. He had dyslipidaemia (total-cholesterol: 192 mg/dl, HDL:31 mg/dl, LDL1: 41 mg/dl, triglycerides: 440 mg/dl); increased IGF-1: 379–481–410 ng/mL (NL<269); HOMA-IR: 11.93, A1c:6.4%. 1st OGTT: Impaired glucose tolerance (0 h:101; 2 h:186 mg/dl) and GH-0h:1.5; nadir:0.92 ng/ml; second OGTT 10 months after-diabetes (glucose 0 h:120; 2 h: 204 mg/dl) and GH-0h:0.98; nadir: 0.64 ng/ml). Thyroid function, gonadal, metabolism calcium phosphate, prolactin, ACTH, and cortisol are normal. There was a ratio of fat mass trunk/limbs to 1.02 by densitometry and without osteoporosis. Colonoscopy and upper digestive endoscopy were normal. A 17 cm hepatomegaly with mild steatosis was detected on abdominal ultrasound. Left ventricular hypertrophy was observed in the ECG. In the pituitary MRI was found an area of hypocaptation contrast product with rounded aspect in right half of pituitary gland, passing midline to opposite side and prophesying to sphenoid sinus in relation to the pituitary adenoma. No deviation of the pituitary stalk. Subjected to transphenoidal pituitary surgery pathological evaluation showed pituitary adenoma, with extensive expression of GH and ACTH and rare expression of FSH and PRL. Genetic study revealed a intron3/exon3 deletion of the AGPAT2 gene in homozygosity. A GH/IGF-1 discrepancy, IGF-1 increased with normal GH variant was present. The role of insulin resistance or hepatic steatosis isn’t clear and could disturb the diagnosis.

Conclusion: GCL is a rare disease that occurs with acromegaly; however, no case of genetic lipodystrophy associated with acromegaly has been described in the literature.