Persistence of delayed adrenarche in boys with Thalassemia

5 years after a previous study, we followed up a group of thalassemic patie nts, determining DHEA-S levels in peripubertal age, with the aim of evaluat ing whether adrenarche maturation occurred in boys and advanced in girls. F urthermore, we evaluated the degree of bone mineral density (BMD SDSBA) and analyzed growth parameters calculating standard deviation score with respe ct to bone age (BA) of height (Ht SDSBA), sitting height (SH SDSBA), and su bischial leg length (SLL SDSBA), body mass index (BMI) and the difference b etween the values of the previous and the present study (Delta BMI), thyroi d function and serum markers of bone metabolism. Our results showed persist ent lack of adrenarche (DHEA-S 25 +/- 9.5 mug/dl) in all 6 boys and the abs ence of pubertal signs at chronological age (CA) of 12.4 +/- 1.4 yr and BA of 11.1 +/- 1.1 yr. Only one, boy, 6 months later, showed a testicular volu me of 4 mi (Tanner stage G2) with an increase of DHEA-S value (181 mug/dl) at BA 12.8 yr. Body disproportion and severe degree of osteopenia (BMD SDSB A - 2.41 +/- 0.5) were observed in all boys, even though Ht SDSBA (0.14 +/- 0.8) and markers of bone metabolism were within the normal range: No chang e in nutritional status was observed (Delta BMI 0.09 +/- 0.4 kg/m(2)). In c ontrast, all the thalassemic girls had DHEA-S values (172.7 +/- 97.7 mug/dl ) within the normal range at BA 12.7 +/- 0.6 yr that was similar to CA. Fur thermore, the appearance of Tanner stage B2 occurred in each of them at BA, near to CA, of 10.4 +/- 0.9 yr, and menarche was observed in three of them at mean BA, near to CA, of 11.4 +/- 0.9 yr. Ht SDSBA was below normal rang e (-1.11 +/- 0.8), but SLL SDSBA and SH SDSBA values were reduced homogeneo usly, so that proportional body growth was observed. A significant change i n nutritional status was observed (Delta BMI 2.69 +/- 0.9 kg/m(2)). Bone de nsity value (BMD SDSBA - 0.25 +/- 0.4) was in the normal range. There were no statistically significant differences between boys and girls for ferriti n serum levels, blood consumption and desferrioxamine dosage. In conclusion , lack of change in nutritional status, measurable in the form of Delta BMI , but not BMI alone, considered an important physiological regulator of adr enarche, regardless of individual adrenal androgen secretion, could have a key role in the lack of adrenarche persisting in thalassemic boys during pe ripubertal age. Further follow up is necessary, in particular when boys rea ch puberty, because delayed adrenarche represents the most intriguing aspec t in these patients.