H Meena1, Manisha Jana2, Vishwajeet Singh3, Madhulika Kabra4, Vandana Jain5. 1. Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. 2. Department of Radiology, All India Institute of Medical Sciences, New Delhi, India. 3. Department of Biostatistics, All India Institute of Medical Sciences, New Delhi, India. 4. Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. 5. Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India. drvandanajain@gmail.com.
Abstract
OBJECTIVE: 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. METHODS: 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. RESULTS: 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%). CONCLUSIONS: 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.
OBJECTIVE: 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. METHODS: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. RESULTS: 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%). CONCLUSIONS: 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.
Authors: Kalpana Muthusamy; Mohamed B Elamin; Galina Smushkin; Mohammad Hassan Murad; Julianna F Lampropulos; Khalid B Elamin; Nisrin O Abu Elnour; Juan F Gallegos-Orozco; Mitra M Fatourechi; Neera Agrwal; Melanie A Lane; Felipe N Albuquerque; Patricia J Erwin; Victor M Montori Journal: J Clin Endocrinol Metab Date: 2010-09 Impact factor: 5.958
Authors: Vaman Khadilkar; Sangeeta Yadav; K K Agrawal; Suchit Tamboli; Monidipa Banerjee; Alice Cherian; Jagdish P Goyal; Anuradha Khadilkar; V Kumaravel; V Mohan; D Narayanappa; I Ray; Vijay Yewale Journal: Indian Pediatr Date: 2015-01 Impact factor: 1.411
Authors: Mimi S Kim; Fariba Goodarzian; Madison F Keenan; Mitchell E Geffner; Christina M Koppin; Roger E De Filippo; Paul J Kokorowski Journal: J Urol Date: 2016-11-10 Impact factor: 7.450
Authors: Nike M M L Stikkelbroeck; Bep A E Van't Hof-Grootenboer; Ad R M M Hermus; Barto J Otten; Martin A Van't Hof Journal: J Clin Endocrinol Metab Date: 2003-08 Impact factor: 5.958
Authors: Duncan J Campbell; Juerg Nussberger; Michael Stowasser; A H Jan Danser; Alberto Morganti; Erik Frandsen; Joël Ménard Journal: Clin Chem Date: 2009-03-05 Impact factor: 8.327