Endocrine Abstracts

Regular red blood cell transfusions for thalassemia major leads to iron overload in endocrine glands, inducing deficient function of the pituitary, thyroid, parathyroid etc. In thalassemia intermedia these endocrine disturbances may appear due to increased intestinal iron absorption and occasional transfusions, but are less frequent and milder. We have no data about their presence in thalassemia minor.

We present the case of a young woman known with mild hypochromic anemia since the age of 16. Her mother and brother have chronic anemia, too. She received iron therapy orally a few times, and parenterally 2–3 times, without the cause of anemic syndrome being clarified. She gave birth to a single child, and menstruations ceased at 29-years of age, after a prolonged psychological stress. Endocrine evaluation was performed after two years of secondary amenorrhoea, the 31-years-old patient presenting also memory loss, constipation, cold intolerance, flushes of heat, asthenia, intermittent headache. Physical examination showed short stature, pale skin, rare sexual hair, RR: 80/60 mmHg, HR: 60 bpm. Laboratory detected low or subnormal level of pituitary and corresponding peripheral hormones (TSH: 0.48 mIU/ml, normal: 0.38–4.31; fT₄: 0.35 ng/dl, n: 0.82–1.63; LH: 6.6 mIU/ml, n: 4.5–11; FSH:1.8 mIU/ml, n: 1.7–13.3, estradiol: 0.8 pg/ml, n: 40.7–220.4, 8 AM cortisol at baseline: 7.25 μg/dl, n: 6.4–21, cortisol after long Synacthen-test: 39.59 μg/dl, PRL: 10.9 ng/ml, n: 4.1–28.9), anemia (Hb: 9.9 g/dl, HCT: 31.3%, MCV: 65.2fL, MCH: 20.6 pg, Hgb electrophoresis: HbA1: 93.5%, HbF: 0.9%, HbA2: 5.6%). The pituitary CT-scan was normal. L-thyroxine (50mcg/day) and sexual hormone replacement therapy (2 mg/day estradiol for 21 days, and 2×100 mg/day progesterone for 10 days) were started, followed by artificial menstrual cycles, without aggravation of the anemic syndrome. Mild hyperprolactinemia (PRL: 56.5 ng/ml) with galactorrhea appeared, and the dose of estradiol was reduced to 1.5 mg/day, the clinical and laboratory status being under control now. We discuss the possible explanations of the association between two rare diseases: thalassemia minor and pituitary failure of apparently non-organic etiology.