Validity of the use of a few hand-wrist bones for assessing bone age

Bone age is widely used as an osseous maturation method to assess biological development in clinical and auxological studies. Numerical methods for calculating bone age have better replicability; however, they require a wide data manipulation. The aim of this study was to evaluate the accuracy of bone age estimation by using just a few ossification centers. In 205 hand and wrist radiographs of children and adolescents, aged 0.9-17.4 years old (111 males and 94 females), bone age was determined by two trained observers employing the five-bone (B5) and the TW2 methods. To compare the results of the two methods, the mean differences by age and sex were tested by the Mann-Whitney test. The relationship of the bone age distribution estimated by B5 and TW2 was calculated and the mean of the bone age determined by the two methods was plotted by age and by differences between bone age calculated by the two methods +/- 2 SD. The bone age determined by B5 was between 1.2 and 16.8, and by TW2 was between 1.2 and 18.0 years. The mean differences between B5 and TW2 (-0.06 +/- 0.6) were not significant (p >0.05). The distribution of mean differences by age and method demonstrated that all deviations were encompassed into +/- 2 SD with no particular bias. In general terms, a good agreement was obtained between these two methods.o TEXTO COMPLETO DESTE ARTIGO, ESTARÁ DISPONÍVEL À PARTIR DE AGOSTO DE 2015.16454154

21-hydroxylase deficiency transiently mimicking combined 21- and 11 beta-hydroxylase deficiency

21-Hydroxylase deficiency (21OHD) is the commonest form of congenital adrenal hyperplasia, while 11 beta OHD represents 5% of cases. Although both result from mutations in distinct genes, cases of 'apparent' combined 210HD and 11 beta OHD (AC21,11OHD) have been occasionally reported. A 6 year-old girl, born with ambiguous genitalia and salt-loss, had serum elevations (ng/dl) of androstenedione (>1,000), 17-hydroxy-progesterone (17OHP; 38,483), 21-deoxycortisol (21DF; 23,338), and 11-deoxycortisol (S; 4,928), suggesting AC21,11OHD. CYP21A and CYP11B1 genotyping identified mutations only in the former. On follow-up, serum S became normal but 17OHP and 21DF were still elevated. ACTH stimulation disclosed elevated levels of 17OHP and 21DF, but unresponsive S and undetectable deoxycorticosterone. The hormonal pattern initially suggested AC21,11OHD, but subsequent normalization of S showed transient 11-hydroxylase inhibition. This may have occurred by enzyme or co-enzyme immaturity or functional discrepancy, but also by selective inhibition of 11 beta-OH by excess intra-adrenal concentration of androgens, acting as pseudo-substrates for this enzyme.o TEXTO COMPLETO DESTE ARTIGO, ESTARÁ DISPONÍVEL À PARTIR DE AGOSTO DE 2015.21548749