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

Labioscrotal island flap in feminizing genitoplasty

Background/Purpose: Stenosis of the vaginal introitus is the most frequent complication after genital reconstruction for ambiguous genitalia associated with congenital adrenal hyperplasia (CAH). With the aim of enlarging the vaginal introitus, the authors present a technical modification of the introitoplasty that uses a bilateral cutaneous island flap based on the perineal superficial branches of the internal pudendal artery. Methods: Eleven girls with CAH and Prader III to V genital ambiguity were included. Feminizing genitoplasty was performed in 1 stage. Bilateral cutaneous labioescrotal island flaps, based on the posterior labial artery, were included in the introitoplasty. The cosmetic results of the genitoplasty were evaluated by photographic analysis of the external genitalia. Results: Integrity of the vaginal introitus as well as excellent integration of the flap and absence of additional scars in the donor area were assessed in all girls. Conclusions: This modified island flap is technically feasible and reproducible producing no additional sequels in the donor area. It uses perineal skin that is usually excised in other techniques avoiding the use of harvesting skin from adjacent areas. Thus, it can be a useful additional procedure in the introitoplasty in association with the currently used techniques. (C) 2004 Elsevier Inc. All rights reserved.3971030103

Bone mineralization in Turner syndrome: a transverse study of the determinant factors in 58 patients

Turner syndrome (TS) is characterized by the presence of an X chromosome and total or partial loss of the second sex chromosome, short stature, hypergonadotrophic hypogonadism, and a variable dysmorphic picture. Delayed puberty and estrogen deficiency are some of the determinant factors of osteoporosis in TS, but the whether or not there is an intrinsic bone defect is still obscure. The aim of this study was to evaluate the correlation of the z score of bone mineral density (BMD) with age, weight, height, karyotype, associated diseases, bone age, and estrogen therapy in TS patients. We performed a transverse study with area BMD of L2-L4 with dual-energy X-ray absorptiometry (DEXA) in 58 patients with a cytogenetic diagnosis of TS, whose ages ranged from 5 to 29 years. It was observed that 86% of the patients presented with a BMD z score below -1 SD, and 46.5% with a value below -2.5 SD. There was a significant negative association of BMD with age and height, and a positive association with weight and bone mass index (BMI) z scores. A higher BMD was observed in patients with spontaneous puberty and in those with more than 2 years of hormone replacement. In conclusion, there was a high incidence of reduced bone mass among our patients, which was influenced by weight and BMI, by the use and the time of estrogen replacement, and by the presence of spontaneous puberty.20529429

Estimation of percent body fat based on anthropometric measurements in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Background & aim: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is associated with a high risk for obesity. Anthropometric measures are simple and inexpensive methods to assess body fat. However, the accuracy of alternative methods in these patients is unknown. This study aim to develop and evaluate the accuracy of predictive anthropometric equations in the estimation of percent body fat in individuals with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Methods: A total of 31 female and 22 male patients, aged 7-20 years, were evaluated. Dual-energy X-ray absorptiometry was used as the reference method for body fat, and anthropometric measurements were performed. Results: Three new predictive equations showed similar results: Equation (1) (R-2 = 0.85; SEE = 2.89%), Equation (2) (R-2 = 0.86; SEE = 2.82%), and Equation (3) (R-2 = 0.86; SEE = 2.81%). Internal cross-validation procedures showed a high R-2 (range, 0.84-0.85) and low SEE (<3%). The limits of agreement ranged from -5.6% to 5.6% and no trend was observed. Conclusion: In children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, three new predictive equations were validated for the estimation of percent body fat, with dual-energy X-ray absorptiometry as the reference method. (C) 2012 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.3214550Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Ministry of Education, Brazil [BEX 2018/10-1]Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Ministry of Education, Brazil [BEX 2018/10-1

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

Spontaneous final height in Turner's syndrome in Brazil

Short stature is the main factor of emotional impact in girls and women with Turner's syndrome (TS). Growth hormone, alone or associated with sex steroids, allows better adult height. The results of spontaneous final height (FH) in TS can help to evaluate the real cost-benefit of any treatment to improve FH in patients from the same population. The aim of this study was to determine spontaneous FH in women TS and to look for factors which influence it. We evaluated 58 patients with TS who attained FH. Data of weight and length at birth, parents' heights, karyotype, spontaneous puberty and sex hormone replacement were obtained. Mean FH was 144.8 cm and target height 157.0 cm. FH was correlated only to maternal height. The deficit in FH was lower than that found in other Brazilian studies but similar to that described in the literature. This study may help verify the efficacy of therapeutic actions on FH of Brazilian women with TS.o TEXTO COMPLETO DESTE ARTIGO, ESTARÁ DISPONÍVEL À PARTIR DE AGOSTO DE 2015.20111207121

H28+C insertion in the CYP21 gene: A novel frameshift mutation in a Brazilian patient with the classical form of 21-hydroxylase deficiency

In the classical form of 21-hydroxylase deficiency, CYP21-affected genes either carry mutations present in the CYP21P pseudogene (microconversions) or bear a chimeric gene that replaces the active gene as a result of large conversion or deletion mutational events. Previous genotyping of 41 Brazilian patients revealed 64% microconversion, whereas deletions and large gene conversions accounted for up to 21% of the molecular defect. The present paper describes a new mutation disclosed by sequencing an entire gene in which no pseudogene-originated mutation had been found. The patient with the classical form of 21-hydroxylase deficiency is the daughter of a consanguineous marriage, and she is homozygous for a novel frameshift H28+C within exon 1. The mutation causes a stop codon at amino acid 78. Both parents are heterozygous for the mutation as confirmed by allele-specific oligonucleotide PCR. The H28+C is not present in the published CYP21P sequences and is likely to result in an enzyme with no activity.O TEXTO COMPLETO DESTE ARTIGO, ESTARÁ DISPONÍVEL À PARTIR DE FEVEREIRO DE 2015.86125877588