Gonadal dysfunction and pelvic sonographic findings in females with thalassaemia major

To investigate pubertal and menstrual problems and evaluate pelvic sonographic findings in patients with beta-thalassaemia major.

Twenty-five female patients followed for thalassaemia major constituted the study population. Sexual maturation and hormonal status were assessed. Pubertal and menstrual problems were investigated.

There was one patient with delayed puberty and five patients with arrested puberty. Mean ferritin level in this group of patients was slightly but not significantly higher than patients with normal pubertal maturation (2620 +/- 994 ng/ml vs. 2409 +/- 1348 ng/ml, p > 0.05). There were 10 patients with primary amenorrhoea, three with secondary amenorrhoea, five with oligomenorrhoea and irregular menstruation and one with regular menstruation. Compared to menstruating patients, the mean uterine size was smaller (4.1 +/- 3.5 cm(3) vs. 52.8 +/- 14.5 cm(3)) in all patients with delayed and arrested puberty (p < 0.05). Ten patients were taking hormone replacement therapy (HRT). The mean uterine size in these patients was larger than that in patients with amenorrhoea who were not taking HRT, but smaller than that in menstruating patients (9.1 +/- 15.9 cm(3), 2.7 +/- 1.3 cm(3) and 52.8 +/- 14.5 cm(3), respectively) (p < 0.05).

Thalassaemia major has important side effects on the hypothaloma-pituitary-gonadal axis resulting in pubertal and menstrual abnormalities. HRT should be given to provide normal sexual maturation in these patients.