Background: Testicular adrenal rest tumors (TART) can cause infertility in congenital adrenal hyperplasia (CAH) males. Aims: To determine TART prevalence in patients with CAH due to 21-hydroxylase deficiency (21-OHD) and evaluate possible factors associated with its development. Methods: This is a descriptive and analytical cross-sectional study evaluating males with the classical form of 21-OHD through testicular ultrasonography and serum inhibin B dosages. Data on prescribed glucocorticoid dose and serum levels of 17- hydroxyprogesterone (17-OHP), androstenedione (Andro), ACTH, renin, and LH were obtained from medical records. Results: Thirty-eight males were evaluated. The mean age on ultrasonography was 15.2 ± 6.7 (3–27) years. Nine patients (23.7%) had TART, 4 of them were prepubertal and the youngest was 5 years old. No association was found between TART and 21-OHD phenotype, glucocorticoid dose, or 17-OHP, ACTH, LH, renin, and inhibin B levels measured in the 6 preceding years. However, 50% of the patients who presented increased Andro 2 years prior to the evaluation had TART (p = 0.018, OR = 8.00 [95% CI: 1.42–44.92]), whereas in the normal Andro group only 16.7% had tumors. Conclusion: This study showed that TART can occur in prepubertal patients and that disease control could be a factor associated with its development. Therefore, we suggest investigating TART development early in childhood, mainly in poorly controlled 21-OHD patients.

Objective: To evaluate growth and body composition of patients with the salt wasting form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and to compare them with healthy children.Methods: Twenty-one prepubertal patients (eight boys and 13 girls) between 2.1 and 10.2 years and 67 prepubertal healthy controls (36 boys and 31 girls) between 1.2 and 11.7 years were included. Weight, height, upper-arm circumference, skinfolds, body composition determined by bioimpedance, and bone age were measured. The following data were obtained from the medical records: parents' height, serum levels of 17-hydroxyprogesterone and Δ4-androstenedione, prescribed hydrocortisone doses, weight and length at birth, in the beginning of the treatment, and at 2 years. Results:Patients had lower weight and length z scores at the first appointment compared with the same data at birth, showing recovery after the beginning of the treatment without advanced bone age. Mean height z score was higher in controls (0.28±0.86) than in patients (-0.61±0.99, p < 0.001); this difference disappeared when the patients' height was adjusted to their bone age (0.33±1.68, p = 0.912). Patients had higher body mass index (p < 0.001), fat mass (p < 0.001), and fat mass index (p < 0.001) than controls. There was no difference in the skinfolds between the two groups (p = 0.157). Conclusions:Patients had growth recovery with mean height similar to the general population; however, they had higher body fat, which seems to be visceral, since there was no difference between the skinfolds of both groups. J Pediatr (Rio J). 2011;87(3):263-268:Congenital adrenal hyperplasia, adrenal, body composition, growth, child. ResumoObjetivo: Avaliar crescimento e composição corporal de portadores da forma clássica perdedora de sal da hiperplasia adrenal congênita por deficiência da 21-hidroxilase, comparando-os com crianças saudáveis. Métodos:Foram incluídos 21 pacientes (oito meninos e 13 meninas), entre 2,1 e 10,2 anos, e 67 controles pré-púberes (36 meninos e 31 meninas), entre 1,2 e 11,7 anos. Avaliou-se peso, estatura, perímetro braquial, dobras cutâneas, composição corporal por bioimpedância e idade óssea. Foram obtidas dos prontuários dos pacientes as seguintes informações: estatura dos pais, valores de 17-OH progesterona e Δ4-androstenediona, dose de hidrocortisona prescrita, dados de peso e estatura ao nascimento, no início do tratamento e aos 2 anos de idade. Resultados:Os pacientes apresentaram menor escore z de peso e de altura na primeira consulta em relação à situação de nascimento, com posterior recuperação após o início do tratamento, sem apresentar avanço da idade óssea. A média do escore z da altura dos controles (0,28±0,86) foi maior que a dos casos (-0,61±0,99, p < 0,001). Essa diferença desaparece quando se ajusta a altura dos pacientes para a idade óssea (0,33±1,68, p = 0,912). Os pacientes apresentaram maiores índices de massa corporal (p < 0,001), massa gorda (p < 0,001) e índice de massa gorda (p < 0,001) do que os contr...

In children and adolescents with 21OHD, %BF as estimated by skinfold measurements was associated more strongly with DXA-assessed %BF than both BMI and WC. However, still, the skinfold-based assessment underestimated DXA %BF and showed moderate agreement.

The study showed that 9.13% of the children with b-TSH levels between 5 and 10μIU/mL developed hypothyroidism and that in approximately one-quarter of them, the diagnosis was confirmed only after the third month of life. Based on these findings, the authors suggest the use of a 5μIU/mL cutoff for b-TSH levels and long-term follow-up of infants whose serum TSH has not normalized to rule out congenital hypothyroidism.

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