ABSTRACT
INTRODUCTION: Abetalipoproteinemia is a rare inherited disorder characterized by very low plasma levels of cholesterol and triglycerides, secondary to a dramatic decrease in apolipoprotein B-containing lipoproteins, which is induced by a mutation in the microsomal triglyceride transfer protein gene. CASE: In our paper, we describe an atypical clinical manifestation of this condition in a young man, which included the presence of hypogonadism and chronic adrenal failure. We connect the development of both endocrine disorders with very low plasma levels of cholesterol, which is uptaken by the gonads and adrenal cortex and used as a substrate for steroidogenesis, accentuated by carbamazepine treatment. Testosterone treatment and administration of hydrocortisone, fludrocortisone and dehydroepiandrosterone resulted in a significant improvement in a patient's condition. CONCLUSIONS: This case shows that untreated or inaccurately managed long-lasting abetalipoproteinemia may impair the production of steroid hormones and lead to the development of some endocrine disorders.
