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Long term follow up of growth in children with Congenital Adrenal Hyperplasia 21- Hydroxylase deficiency

Obesity and decreased final height are described in children with CAH 21OHD. Of 119 children (50 M, 69F;79 Salt Wasters(SW), 40 Simple Virilizers (SV)) diagnosed over 24 years, various growth parameters were studied in 43 children with regular follow up for 5 years or more.

Clinical data, anthropometry, genotype, hormonal and biochemical profile were evaluated at presentation. On follow up, growth and clinical characteristics, metabolic control (8am 17OH-Progesterone), bone age and replacement doses of gluco-corticoid (GC) and mineralo-corticoid (MC) were studied. Growth parameters were expressed as SDS. Obesity, defined as BMI SDS >/= 2 and short stature, defined as Ht SDS </= -2 were correlated with all the variables, using Unpaired T Test, Pearson Correlation and One way ANOVA Test.

43 children (16M, 27F; 32SW, 11SV; 36 mutations proven) had a mean duration of follow up of 11 +/- 4.14 years. At last follow up, Ht SDS was </= -2 in 27.9% cases (N=12/43: 4M, 8F; 9SW, 3SV). Age at onset of puberty (p=0.035), higher GC dose at presentation (>40mg/m2) (p=0.034) and at 3 years of age (p=0.047) and use of Hydrocortisone and/or Prednisolone (p=0.002) had a negative correlation with Ht SDS. 6 (13.95%) children (1M, 5F; 6SW) had achieved Adult Height (AH) SDS of -2.36 +/- 1.25, and AH SDS – TH SDS (Target Height) was -0.11 +/- 1.23. BMI SDS >/=2 found in 32.6% cases (N=14/43: 2M, 12F; 8SW, 6SV) correlated positively with 17 OHP values (p=0.013). Girls were heavier than boys (p=0.006). Adiposity rebound occurred at 4 years for both the genders. At the time of study analysis, Ht SDS showed a distinct shift to the left and BMI SDS, a distinct shift to the right of mean of the reference population as cited [1].

In the present series, there was a higher incidence of obesity (32.6%) but short stature was noted in 27.9% only. Aggressive lifestyle management, dietary control, optimizing dose of therapy (GC) and regular monitoring should be an integral part of long term management of patients with CAH 21OHD.


  1. Agarwal KN, Agarwal DK: Indian Pediatrics. 1992, 29: 1203-1994; 31:377, 2001; 38:1217-35

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Parikh, R., Rao, S., Desai, M. et al. Long term follow up of growth in children with Congenital Adrenal Hyperplasia 21- Hydroxylase deficiency. Int J Pediatr Endocrinol 2015 (Suppl 1), P47 (2015).

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