Endocrine Abstracts

Introduction: Beta-thalassemia major is a genetic syndrome accompanied by a defect in hemoglobin synthesis leading to severe anemia. Conventional treatment of this hemoglobinopathy involves repeated blood transfusions exposing the patient to iron overload, which represents the main morbidity due to visceral and endocrine complications. We report the case of a patient treated for beta-thalassemia with endocrine complications associated with post transfusion hemochromatosis.

Observation: 20-year-old female patient treated for beta-thalassemia major for 15 years, splenectomized at 10 years old, polytransfused 2 times per month, initially admitted for an inaugural ketosis of diabetes. The clinical examination found a patient with a delayed stature: weight at 28 kg (−2DS) for a height at 149 cm (−2DS) and a delayed puberty: patient in primary amenorrhea with a score TANNER P0S0. Paraclinically, ferritinemia was at 21763 μg/l, serum calcium at 82 mg/l. The hormonal assessment found a central hypothyroidism with a TSH at 2 μUi/l, a T4L at 0.6 ng/dl and a T3 at 1 μg/ml, a hypogonadism hypogonadotropic, a cortisolemia of 8 h at 19 μg/dl. The assay IGF1 levels and Anti GAD Antibodies were not performed due to lack of means. Hypothalamic-pituitary magnetic resonance imaging (MRI) showed no abnormality. Bone age was 13.5 years. The patient received insulin and estrogen/progestin treatment and levothyroxine supplementation.

Discussion: This observation illustrates the multiple endocrine complications that could be associated with post-transfusion hemochromatosis. Several endocrine organs including the pituitary, thyroid and parathyroid glands, as well as the gonads and the endocrine pancreas may be targets of post-transfusional iron overload, which may expose the patient to multiple endocrine complications. The most common one observed is diabetes mellitus. Functional insufficiency of gonadotropic, thyrotropic and somatotropic hormonal axes is also common, with repercussions on growth and sexual development. The frequency and diversity of endocrine abnormalities associated with hemochromatosis, make early diagnosis and appropriate management in endocrinology essential to improve the prognosis.