Myelolipomas are rare benign tumours resulting from myeloid and adipose mature cells proliferation, both elements have a clonal origin from a common precursor. Myelolipomas predominantly involve the adrenal gland but may develop in extra-adrenal sites. They are hormonally inactive but may coexist with active diseases such as adrenogenital syndrome. They are often asymptomatic but rarely they cause symptoms due to their size or spontaneous retroperitoneal haemorrhage. The myelolipomas, as a response to chronic hypoxia, are frequent in more severe forms of thalassemias but not in traits. 17-α-hydroxilase deficiency is a rare cause of congenital adrenal hyperplasia due to defect in cytocrome P450C17 with elevated levels of ACTH leading to hypertension, hypokaliemia, and sexual development abnormalities. We report a case of a 48-year-old patient with primary amenorrhea who was diagnosed with a 17-α-hydroxylase deficiency. Since diagnosis, desametasone, hydrocortisone, antihypertensive and EEPP therapy was prescribed but the patient assumed it discontinuously. Mycrocytic hypochromic anemia was present due to a β-thalassemic trait. The erythropoietin response to anemia was near to the lowest limit, although chronic renal failure was present. An abdomen MRI documented two bilateral voluminous masses at the adrenal site. Left adrenalectomy was performed. The histological examination of the mass recognized a myelolipoma. This is the only case in literature that describe the concomitant presence of myelolipomas and β-thalassemic trait in a patient with 17-α-hydroxylase deficiency. Some hypothesis on the pathogenesis of adrenal myelolipoma can be made. Perhaps, the patient had periodical high ACTH levels due to the low adherence to suppressive therapy and the chronic adrenal gland stimulation resulted in myeloid metaplasia of adrenocortical cells. It is well known that ACTH has stimulatory effect on erythropoietin production. These two actions can be responsible of the myelolipoma growth in a patient with β-thalassemia trait.In this case the chronic stimulating ACTH effect strengthened that of a mild anemia.
03 - 07 May 2008
European Society of Endocrinology