Chronic adrenal failure and hypergonadotropic hypogonadism in a patient with abetalipoproteinemia.

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.

authors

Krysiak R,Okopie B

subject

Has Abstract

pub_date

2012-10-01 00:00:00

pages

95-7

eissn

1128-3602

issn

2284-0729

journal_volume

16 Suppl 4

pub_type

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