Clinical and Hormonal Profile of Classical 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia: Experience from a Tertiary Centre In India.

Introduction: Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder requiring treatment with steroids. Both over and under-treatment can have an impact on growth outcomes.

Aims: The aim of this study was to study the clinical and hormonal profile of a cohort of individuals with classical 21-hydroxylase CAH and to assess the factors influencing growth outcomes in these individuals.

Methods: In this cross-sectional study, individuals with classical CAH were included. Baseline data were obtained from electronic medical records. Anthropometric measurements and hormonal profiles were assessed. Quantitative variables were expressed as mean ± standard deviation or median (interquartile range) and qualitative variables as percentages. To measure the correlation between variables, Spearman's rank correlation was used.

Results: Of the 27 patients with classical 21-hydroxylase CAH, 13 had salt wasting and 14 had simple virilizing phenotype. The median height standard deviation score (SDS) of the cohort was -1 SDS (-2.00 to 0.2) with 24% having short stature (height < -2 SDS). There was no significant difference in height SDS depending on the age, gender, type of CAH or onset of central precocious puberty. There was no significant correlation between glucocorticoid dose and height SDS ( = 0.104). Obesity was a common finding (40% adults, 41.1% children). However, there was no significant correlation between BMI and glucocorticoid dose ( = 0.419).

Conclusions: Short stature was a significant finding as noted in earlier studies. However, the high prevalence of obesity was a new finding that could not be explained by the dose of steroids alone.