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30.01.2019 | Original Article | Ausgabe 6/2019

The Indian Journal of Pediatrics 6/2019

Growth Pattern and Clinical Profile of Indian Children with Classical 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia on Treatment

The Indian Journal of Pediatrics > Ausgabe 6/2019
H. Meena, Manisha Jana, Vishwajeet Singh, Madhulika Kabra, Vandana Jain
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To prospectively assess the growth parameters in a cohort of children with classical 21-hydroxylase deficiency congenital adrenal hyperplasia, comprehensively profile their clinical data and evaluate the prevalence of testicular adrenal rest tumors among affected boys.


Children with congenital adrenal hyperplasia aged 0–18 y were prospectively followed up for six mo to 2 y (mean follow-up: 17 ± 6 mo). Baseline data were obtained by interviewing parents and from clinic records. Anthropometry, biochemical parameters, X-ray for bone age, and ultrasound scrotum (in boys >5 y) for testicular adrenal rest tumors were performed.


Among the 81 children (32 boys, 49 girls), two-thirds (57) had salt-wasting and the remaining had simple virilizing type and the mean age at enrolment was 6.2 ± 4.9 y. The overall height standard deviation score was −0.6 (−2.0 to 0.8) with a greater compromise in children in the age groups 0–2 y and > 10 y and those with salt-wasting type. Overall, 25 (31%) children had short stature and 45 (55.6%) had growth velocity below the reference range. Bone age advancement beyond 2 standard deviation score was seen in 46% of children assessed. Testicular adrenal rest tumors were detected in 5 out of 21 boys (23.8%).


The auxological pattern observed in this homogenously-managed Indian pediatric cohort with congenital adrenal hyperplasia highlights that infancy and peri-pubertal age groups are the most vulnerable, reiterating the importance of diligent growth monitoring. The high prevalence of testicular adrenal rest tumors merits the incorporation of annual ultrasound in the follow-up protocol of these patients.

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